NLRP3

gene
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Also known as AGTAVPRLAIIAVPFCASFCUNALP3PYPAF1MWSCLR1.1

Summary

NLRP3 (NLR family pyrin domain containing 3, HGNC:16400) is a protein-coding gene on chromosome 1q44, encoding NACHT, LRR and PYD domains-containing protein 3 (Q96P20). Sensor component of the NLRP3 inflammasome, which mediates inflammasome activation in response to defects in membrane integrity, leading to secretion of inflammatory cytokines IL1B and IL18 and pyroptosis.

This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NLRP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. The SARS-CoV 3a protein, a transmembrane pore-forming viroporin, has been shown to activate the NLRP3 inflammasome via the formation of ion channels in macrophages. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, neonatal-onset multisystem inflammatory disease (NOMID), keratoendotheliitis fugax hereditarian, and deafness, autosomal dominant 34, with or without inflammation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5’ UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5’ UTR splice patterns are biologically valid.

Source: NCBI Gene 114548 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): cryopyrin-associated periodic syndrome (Definitive, GenCC) — +5 more curated relationships
  • GWAS associations: 33
  • Clinical variants (ClinVar): 1,254 total — 26 pathogenic, 28 likely-pathogenic
  • Phenotypes (HPO): 109
  • Druggable target: yes — 11 molecules with ChEMBL bioactivity
  • MANE Select transcript: NM_001243133

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:16400
Approved symbolNLRP3
NameNLR family pyrin domain containing 3
Location1q44
Locus typegene with protein product
StatusApproved
AliasesAGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1
Ensembl geneENSG00000162711
Ensembl biotypeprotein_coding
OMIM606416
Entrez114548

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 12 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000336119, ENST00000348069, ENST00000366496, ENST00000391827, ENST00000391828, ENST00000474792, ENST00000532083, ENST00000642259, ENST00000643234, ENST00000697350, ENST00000697408, ENST00000898449, ENST00000898450, ENST00000959505

RefSeq mRNA: 6 — MANE Select: NM_001243133 NM_001079821, NM_001127461, NM_001127462, NM_001243133, NM_004895, NM_183395

CCDS: CCDS1632, CCDS1633, CCDS44346, CCDS44347

Canonical transcript exons

ENST00000336119 — 10 exons

ExonStartEnd
ENSE00001125186247435970247436140
ENSE00001778855247418053247419077
ENSE00001871011247448405247448817
ENSE00003901633247416173247416193
ENSE00003970516247434103247434273
ENSE00003970517247443972247444142
ENSE00003970522247423847247425599
ENSE00003970523247423230247423349
ENSE00003970524247429585247429755
ENSE00003970525247444651247444821

Expression profiles

Bgee: expression breadth ubiquitous, 172 present calls, max score 92.47.

FANTOM5 (CAGE): breadth broad, TPM avg 7.3612 / max 1270.8184, expressed in 376 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter IDTPM avgSamples expressed
95875.7753256
95861.4208257
95880.043414
95890.029816
95930.029010
95920.02318
95940.021912
2020400.01186
95900.00622

Top tissues by expression

289 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
monocyteCL:000057692.47gold quality
mononuclear cellCL:000084291.72gold quality
leukocyteCL:000073891.42gold quality
granulocyteCL:000009486.88gold quality
bloodUBERON:000017883.96gold quality
bone marrow cellCL:000209282.08gold quality
gall bladderUBERON:000211076.13gold quality
bone marrowUBERON:000237175.79gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047375.71gold quality
right lungUBERON:000216775.19gold quality
vermiform appendixUBERON:000115474.52gold quality
upper lobe of left lungUBERON:000895274.07gold quality
spleenUBERON:000210673.68gold quality
upper lobe of lungUBERON:000894872.38gold quality
omental fat padUBERON:001041471.66gold quality
peritoneumUBERON:000235871.58gold quality
smooth muscle tissueUBERON:000113571.28gold quality
right coronary arteryUBERON:000162570.70gold quality
adipose tissue of abdominal regionUBERON:000780870.18gold quality
C1 segment of cervical spinal cordUBERON:000646970.08gold quality
caecumUBERON:000115368.93gold quality
left uterine tubeUBERON:000130368.92gold quality
right frontal lobeUBERON:000281068.38gold quality
rectumUBERON:000105268.06gold quality
spinal cordUBERON:000224067.24gold quality
mucosa of stomachUBERON:000119967.15gold quality
prefrontal cortexUBERON:000045167.04gold quality
left coronary arteryUBERON:000162666.53gold quality
lymph nodeUBERON:000002966.23gold quality
cingulate cortexUBERON:000302766.06gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3no0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, HESX1, IRF6, KLF5, NFKB, ZHX2

miRNA regulators (miRDB)

44 targeting NLRP3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-428299.9975.366408
HSA-MIR-223-3P99.9970.141140
HSA-MIR-365899.9673.874379
HSA-MIR-302E99.9670.742669
HSA-MIR-548AB99.9571.313488
HSA-MIR-55999.9572.283609
HSA-MIR-548A-5P99.9471.273482
HSA-MIR-548AD-5P99.9471.233502
HSA-MIR-548AE-5P99.9471.233502
HSA-MIR-548AK99.9471.243488
HSA-MIR-548AM-5P99.9471.243488
HSA-MIR-548AP-5P99.9471.143489
HSA-MIR-548AQ-5P99.9471.343426
HSA-MIR-548AR-5P99.9471.283515
HSA-MIR-548AS-5P99.9471.223482
HSA-MIR-548AU-5P99.9471.243488
HSA-MIR-548AY-5P99.9471.233502
HSA-MIR-548B-5P99.9471.233502
HSA-MIR-548BB-5P99.9471.273509
HSA-MIR-548C-5P99.9471.243488
HSA-MIR-548D-5P99.9471.233502
HSA-MIR-548H-5P99.9471.243488
HSA-MIR-548I99.9471.253481
HSA-MIR-548J-5P99.9471.143489
HSA-MIR-548O-5P99.9471.243488
HSA-MIR-548W99.9471.243488
HSA-MIR-548Y99.9471.283514
HSA-MIR-22-3P99.9368.13917
HSA-MIR-130599.9171.433443

Literature-anchored findings (GeneRIF, showing 40)

  • New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. (PMID:11992256)
  • Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. (PMID:12032915)
  • Mutations in the NALP3/CIAS1/PYPAF1 gene are associated with familial cold urticaria and Muckle-Wells syndrome. (PMID:12355493)
  • De novo CIAS1 mutations in neonatal-onset multisystem inflammatory disease. We found 6 heterozygous missense substitutions in CIAS1. Germline mutations. (PMID:12483741)
  • a single heterozygous missense mutation (T1058C=L353P) in exon 3 of CIAS1 in all four families that is responsible for the large majority of FCAS cases (PMID:12522564)
  • there is a cryopyrin signaling pathway activated through the induced proximity of ASC, which is negatively regulated by pyrin (PMID:12615073)
  • mutated in CINCA syndrome (PMID:14630794)
  • CIAS1/cryopyrin may act as a key regulator of inflammation, induced to dampen NF-kappa B-dependent proinflammatory signals. (PMID:14662828)
  • cryopyrin disease-associated mutants are constitutively active and able to induce NF-kappaB activation and IL-1beta secretion at least in part by an increased ability to interact with ASC (PMID:15020601)
  • NALP3 forms a protein complex that processes IL-1 beta in macrophages from a patient with the Muckle-Wells autoinflammatory disorder. (PMID:15030775)
  • Missense mutations of CIAS1/PYPAF1/NALP3 gene occurred in 7 unrelated Spanish families with recurrent autoinflammatory diseases. (PMID:15593220)
  • data suggest that both pyrin and cryopyrin are capable of assembling independent inflammasome complexes with ASC and procaspase-1, and activating caspase-1 via ASC oligomerization (PMID:16037825)
  • Our approach yielded 26 candidate genes differentially expressed between patients (Osteoarthritis) and controls. BLP2 and CIAS1 seem to be trans-regulated, as the absence of allelic expression imbalances suggests. (PMID:16642435)
  • Faf1 interacts with PYPAF1 and negatively regulates NF-kB activation induced by co-expression of PYAF1 and ASC. (PMID:17046979)
  • monocytes undergo rapid cell death in a cathepsin B-dependent manner upon activation of cryopyrin, which is also a specific phenomenon induced by disease-associated mutation of CIAS1 (PMID:17164343)
  • NALP 1 and 3 show distinct but separate expression profiles in human tissues suggesting a site-specific role in the inflammatory response (PMID:17164409)
  • Anakinra therapy was well tolerated and has sustained efficacy on dermatologic and rheumatic manifestations in these patients with CIAS-1/NALP3 mutations. (PMID:17178985)
  • identification of a novel CIAS1 mutation, F525C; mutation was shown to affect a highly conserved residue of the protein and to segregate with familial cold autoinflammatory syndrome throughout an extended family (PMID:17284928)
  • most mutations mapped to an inner surface of the hexameric ring in the cryopyrin, consistent with the hypothesis that the mutations disrupt a closed form of cryopyrin, thus potentiating inflammasome assembly (PMID:17393462)
  • The PRBC group had a significantly different expression profile included up-regulation of the cryopyrin protein. PRBCs activate inflammatory genes in circulating leukocytes. (PMID:17592301)
  • study provides evidence that activation of NALP3, but not of the IPAF inflammasome, is blocked by inhibiting K(+) efflux from cells (PMID:17599094)
  • A review of cryopyrinopathies caused by cryopyrin mutations. (PMID:17697637)
  • results showed that the requirements of ATP stimulation for IL-1beta release observed in healthy individuals are bypassed in patients bearing CIAS1 mutations (PMID:17763411)
  • functional expression of NLRP3 in osteoblasts provides potential mechanism underlying apoptotic cell death of these cells after challenge with intracellular bacterial pathogens & may be significant contributory factor to bone loss at sites of infection. (PMID:17907925)
  • this report identifies cryopyrin as an important host regulator of programmed pathogen-induced necrosis in animals, a process we term pyronecrosis. (PMID:18005730)
  • Effect of CIAS1 mutations in promoting necrosis-like cell death demonstrates that CIAS1 mosaicism plays an important role in mutation-negative Cias1-associated periodic syndrome. (PMID:18063752)
  • The phenotype-genotype analysis of a Brazilian cohort of patients with cryopyrin-associated periodic syndromes (CAPS) is described. The following missense mutations were found in the cryopyrin gene, T436I, G755R, and C148Y. (PMID:18080732)
  • We report a case of Muckle-Wells syndrome (MWS) caused by a novel mutation in the CIAS1/NALP3 gene. (PMID:18084703)
  • Muckle-Wells syndrome (MWS) and familial cold autoinflammatory syndrome (FCAS) are rare periodic fevers associated with CIAS1 mutations. (PMID:18174231)
  • The researchers found a mutation in exon 3 in the CIAS1 gene in a patient with the CINCA syndrome. (PMID:18175851)
  • Mutations observed in a Finnish patient with familial cold autoinflammatory syndrome responsive to anakinra. (PMID:18189199)
  • The NALP3 and TUCAN single-nucleotide polymorphisms may explain the increased IL-1beta levels and inflammatory symptoms observed, but further studies are needed to reveal a functional relationship. (PMID:18311798)
  • These findings support the use of monogenic loci as candidates for investigating the genetic component of complex disease and provide preliminary evidence of association between SNPs in autoinflammatory genes and psoriatic JIA (PMID:18576390)
  • in this report, there were confirmed three 5’-untranslated region splice forms with two separate transcriptional start sites, and identified potential promoter regions and six new DNA promoter variants. (PMID:18719602)
  • Common variants in NLRP2 and NLRP3 genes are strong prognostic factors for the outcome of HLA-identical sibling allogeneic stem cell transplantation. (PMID:18772453)
  • significant KPNA1-, NLRP1- and NLRP3-gene expression phenotypes associated with human genotypes of Crohn’s disease, Huntington’s disease and rheumatoid arthritis (PMID:19001869)
  • These results suggest that the NLRP3 region is also implicated in the susceptibility of more common inflammatory diseases such as Crohn’s disease. (PMID:19098911)
  • Genetic variations are associated with autoinflammatory disorders and increased susceptibility to microbial infection (PMID:19120479)
  • promotes gout, an inflammatory disorder associated with hyperactivation of macrophages by uric acid from necrotic cells (PMID:19120481)
  • P. gingivalis causes ASC- and NLRP3-dependent necrosis (PMID:19201894)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusNlrp3ENSMUSG00000032691
rattus_norvegicusNlrp3ENSRNOG00000003170

Paralogs (20): NLRP2 (ENSG00000022556), NLRP1 (ENSG00000091592), NOD1 (ENSG00000106100), NLRC5 (ENSG00000140853), NLRP12 (ENSG00000142405), NLRP14 (ENSG00000158077), NLRP4 (ENSG00000160505), NLRX1 (ENSG00000160703), NOD2 (ENSG00000167207), NLRP7 (ENSG00000167634), NLRC3 (ENSG00000167984), NLRP5 (ENSG00000171487), NLRP13 (ENSG00000173572), NLRP6 (ENSG00000174885), CIITA (ENSG00000179583), NLRP8 (ENSG00000179709), NLRP11 (ENSG00000179873), NLRP10 (ENSG00000182261), NLRP9 (ENSG00000185792), PYDC2 (ENSG00000253548)

Protein

Protein identifiers

NACHT, LRR and PYD domains-containing protein 3Q96P20 (reviewed: Q96P20)

Alternative names: Angiotensin/vasopressin receptor AII/AVP-like, Caterpiller protein 1.1, Cold-induced autoinflammatory syndrome 1 protein, Cryopyrin, PYRIN-containing APAF1-like protein 1

All UniProt accessions (7): A0A2R8YEG7, A0A7I2PJH0, A0A7I2PMC6, A0A7I2PRX0, A0A7I2R3P8, A0A7I2UNQ2, A0A7I2YME5

UniProt curated annotations — full annotation on UniProt →

Function. Sensor component of the NLRP3 inflammasome, which mediates inflammasome activation in response to defects in membrane integrity, leading to secretion of inflammatory cytokines IL1B and IL18 and pyroptosis. In response to pathogens and other damage-associated signals that affect the integrity of membranes, initiates the formation of the inflammasome polymeric complex composed of NLRP3, CASP1 and PYCARD/ASC. Recruitment of pro-caspase-1 (proCASP1) to the NLRP3 inflammasome promotes caspase-1 (CASP1) activation, which subsequently cleaves and activates inflammatory cytokines IL1B and IL18 and gasdermin-D (GSDMD), promoting cytokine secretion and pyroptosis. Activation of NLRP3 inflammasome is also required for HMGB1 secretion; stimulating inflammatory responses. Involved in the homeostatic wound healing response to tissue injury, a multistep cascade that guides neutrophil migration to necrotic sites while avoiding collateral damage of healthy tissues. ATP released from necrotic cells triggers activation of NLRP3 inflammasome through P2RX7 signaling leading to neutrophil adhesion to the vascular endothelium close to the injury site. Under resting conditions, ADP-bound NLRP3 is autoinhibited. NLRP3 activation stimuli include extracellular ATP, nigericin, reactive oxygen species, crystals of monosodium urate or cholesterol, amyloid-beta fibers, environmental or industrial particles and nanoparticles, such as asbestos, silica, aluminum salts, cytosolic dsRNA, etc. Almost all stimuli trigger intracellular K(+) efflux. These stimuli lead to membrane perturbation and activation of NLRP3. Upon activation, NLRP3 is transported to microtubule organizing center (MTOC), where it is unlocked by NEK7, leading to its relocalization to dispersed trans-Golgi network (dTGN) vesicle membranes and formation of an active inflammasome complex. Associates with dTGN vesicle membranes by binding to phosphatidylinositol 4-phosphate (PtdIns4P). Shows ATPase activity. Independently of inflammasome activation, regulates the differentiation of T helper 2 (Th2) cells and has a role in Th2 cell-dependent asthma and tumor growth. During Th2 differentiation, required for optimal IRF4 binding to IL4 promoter and for IRF4-dependent IL4 transcription. Binds to the consensus DNA sequence 5’-GRRGGNRGAG-3’. May also participate in the transcription of IL5, IL13, GATA3, CCR3, CCR4 and MAF.

Subunit / interactions. Sensor component of NLRP3 inflammasomes; inflammasomes are supramolecular complexes that assemble in the cytosol in response to pathogens and other damage-associated signals and play critical roles in innate immunity and inflammation. The core of NLRP3 inflammasomes consists of a signal sensor component (NLRP3), an adapter (PYCARD/ASC), which recruits an effector pro-inflammatory caspase (CASP1 and, possibly, CASP4 and CASP5). Homodecamer; inactive NLRP3 forms homodecameric double-ring cages that hide pyrin domains within NACHT-LRR rings to avoid premature activation. Interacts (via pyrin domain) with PYCARD/ASC (via pyrin domain); interaction is direct. Interacts (via LRR repeat domain) with NEK7 (via N-terminus); the interaction is required for the formation of the complex NLRP3:PYCARD, oligomerization of PYCARD/ASC and activation of CASP1. Interacts (via LRR repeat domain) with NR4A1/Nur77 (via N-terminus); the interaction is direct, requires activation of NR4A1 by its ligands NBRE-containing dsDNA and lipopolysaccharide, and stimulates the association of NLRP3 with NEK7 for non-canonical NLRP3 inflammasome activation. Interacts with CARD8; leading to inhibit formation of the NLRP3 inflammasome. Interacts with MEFV; this interaction targets NLRP3 to degradation by autophagy, hence preventing excessive IL1B- and IL18-mediated inflammation. Interacts with EIF2AK2/PKR; this interaction requires EIF2AK2 activity, is accompanied by EIF2AK2 autophosphorylation and promotes inflammasome assembly in response to specific stimuli. Interacts with GBP5 (via DAPIN domain); this interaction promotes inflammasome assembly in response to microbial and soluble, but not crystalline, agents. Interacts with PML (isoform PML-1) (via the leucine-rich repeat (LRR) domain); PML-mediated increase in NLRP3 inflammasome activation does not depend upon this interaction. Interacts (via NACHT domain) with DHX33 (via DEAH box); NLRP3 activation in presence of cytosolic dsRNA is mediated by DHX33. Interacts (via NACHT and LRR domains) with ARRB2; this interaction is direct and inducible by polyunsaturated fatty acids (PUFAs). Interacts with PYDC5. Interacts (via NACHT domain) with DDX3X under both LPS-primed and inflammasome-activating conditions. Interacts with IRF4 (via the LRR domain); this interaction is direct and is required for optimal IRF4 binding to IL4 promoter and efficient IL4 transactivation during differentiation of Th2 helper T cells. Interacts with MAVS; promoting localization to mitochondria and activation of the NLRP3 inflammasome. Interacts with MARK4; promoting localization of NLRP3 to the microtubule organizing center (MTOC). Interacts with TRIM50; this interaction also promotes NLRP3 oligomerization and subsequent inflammasome activation. Interacts with IRGM; preventing NLRP3 inflammasome assembly and promoting NLRP3 degradation. Interacts (via KFERQ-like motifs) with HSPA8/HSC70; promoting NLRP3 degradation by the chaperone-mediated autophagy pathway. Interacts (via NACHT and LLR domains) with ABHD8; this interaction is enhanced in the presence of NLRP3 inflammasome inducers, such as ATP, nigericin, silica, or alum. Interaction with ABHD8 leads the recruitment of ZDHHC12, hence facilitating NLRP3 palmitoylation and degradation by the chaperone-mediated autophagy pathway (CMA), therefore attenuating NLRP3 inflammasome activation. (Microbial infection) Interacts with SARS coronavirus-2/SARS-CoV-2 N protein; the interaction is direct and promotes the binding of NLRP3 with PYCARD/ASC and facilitates NLRP3 inflammasome assembly. This interaction disrupts the association between NLRP3 and ABHD8, enhancing NLRP3 stability, ultimately leading to increased inflammasome activation. (Microbial infection) Interacts with M.pneumoniae CARDS toxin, which ADP-ribosylates NLRP3. (Microbial infection) Interacts with human cytomegalovirus protein US18; this interaction promotes inflammasome assembly.

Subcellular location. Cytoplasm. Cytosol. Inflammasome. Cytoskeleton. Microtubule organizing center. Golgi apparatus membrane. Endoplasmic reticulum. Mitochondrion. Secreted. Nucleus.

Tissue specificity. Predominantly expressed in macrophages. Also expressed in dendritic cells, B- and T-cells (at protein level). Expressed in LPS-treated granulocytes, but not in resting cells (at protein level). Expression in monocytes is very weak (at protein level). Expressed in stratified non-keratinizing squamous epithelium, including oral, esophageal and ectocervical mucosa and in the Hassall’s corpuscles in the thymus. Also, detected in the stratified epithelium covering the bladder and ureter (transitional mucosa) (at protein level). Expressed in lung epithelial cells (at protein level). Expressed in chondrocytes. Expressed at low levels in resting osteoblasts.

Post-translational modifications. Phosphorylation at Ser-198 by MAPK8/JNK1 increases inflammasome activation by promoting deubiquitination by BRCC3 and NLRP3 homooligomerization. Phosphorylation at Ser-806 by CSNK1A1 prevents inflammasome activation by preventing NEK7 recruitment. Phosphorylation at Ser-5 in the pyrin domain inhibits homomultimerization of NLRP3 and activation of the NLRP3 inflammasome: dephosphorylation by protein phosphatase 2A (PP2A) promotes assembly of the NLRP3 inflammasome. Phosphorylation at Ser-295 by PKD/PRKD1 promotes NLRP3 inflammasome assembly. Phosphorylation by ERK1/MAPK3 promotes NLRP3 inflammasome assembly. Phosphorylation by BTK (at Tyr-136, Tyr-140, Tyr-143 and Tyr-168) in the region that mediates binding to phosphatidylinositol phosphate, promotes relocalization of NLRP3 and assembly of the NLRP3 inflammasome. Phosphorylation at Tyr-861 inhibits NLRP3 inflammasome assembly: dephosphorylation by PTPN22 promotes inflammasome activation. Phosphorylated by LATS1 and LATS2 at Ser-265 following palmitoylation by ZDHHC1, promoting its relocalization to the microtubule organizing center (MTOC), where NLRP3 is activated by NEK7, leading to inflammasome assembly and activation. Ubiquitinated; undergoes both ‘Lys-48’- and ‘Lys-63’-linked polyubiquitination. Ubiquitination does not lead to degradation, but inhibits inflammasome activation. Deubiquitination is catalyzed by BRCC3 and associated with NLRP3 activation and inflammasome assembly. This process can be induced by the activation of Toll-like receptors (by LPS), through a non-transcriptional pathway dependent on the mitochondrial production of reactive oxygen species, and by ATP. Ubiquitinated by TRIM31 via ‘Lys-48’-linked ubiquitination, leading to its degradation by the proteasome. Ubiquitinated at Lys-689 by the SCF(FBXL2) complex, leading to its degradation by the proteasome. Ubiquitinated by TRIM35 via ’lys-48’ and ‘Lys-63’-linked ubiquitination leading to inhibition of NLRP3 inflammasome activation. Undergoes ‘Lys-27’-linked polyubiquitination by MARCHF5, leading to NLRP3-NEK7 complex formation and NLRP3 oligomerization. Palmitoylation by ZDHHC12 promotes NLRP3 degradation by the chaperone-mediated autophagy pathway (CMA) and therefore limits NLRP3 inflammasome activation. Following palmitoylation, HSPA8/HSC70 recognizes and binds the KFERQ-like motifs on NLRP3 and promotes NLRP3 recruitment to lysosomes, where it is degraded via the chaperone-mediated autophagy pathway in a LAMP2-dependent process. Palmitoylation at Cys-837 and Cys-838 by ZDHHC5 enhances its binding to NEK7 leading to inflammasome assembly and activation. Palmitoylation at Cys-130 and Cys-958 by ZDHHC1 facilitates phosphorylation at Ser-265 by LATS1 and LATS2, promoting its relocalization to the microtubule organizing center (MTOC), where NLRP3 is activated by NEK7, leading to inflammasome assembly and activation. Depalmitoylated by ABHD17A. Degraded via selective autophagy following interaction with IRGM. IRGM promotes NLRP3 recruitment to autophagosome membranes, promoting its SQSTM1/p62-dependent autophagy-dependent degradation. The disulfide bond in the pyrin domain might play a role in reactive oxygen species-mediated activation. (Microbial infection) ADP-ribosylated by M.pneumoniae CARDS toxin in vitro.

Disease relevance. Familial cold autoinflammatory syndrome 1 (FCAS1) [MIM:120100] A rare autosomal dominant systemic inflammatory disease characterized by recurrent episodes of maculopapular rash associated with arthralgias, myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure to cold. Rarely, some patients may also develop late-onset renal amyloidosis. The disease is caused by variants affecting the gene represented in this entry. Muckle-Wells syndrome (MWS) [MIM:191900] A hereditary periodic fever syndrome characterized by fever, chronic recurrent urticaria, arthralgias, progressive sensorineural deafness, and reactive renal amyloidosis. The disease may be severe if generalized reactive amyloidosis occurs. The disease is caused by variants affecting the gene represented in this entry. Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] Rare congenital inflammatory disorder characterized by a triad of neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation. The disease is caused by variants affecting the gene represented in this entry. Keratoendothelitis fugax hereditaria (KEFH) [MIM:148200] An autosomal dominant corneal disease that periodically, and fleetingly, affects the corneal endothelium, stroma, and vision, eventually leading to central corneal stromal opacities in some patients. The disease is characterized by unilateral attacks of ocular pain, pericorneal injection, and photophobia. The acute symptoms vanish in 1-2 days but vision remains blurry for several weeks. The attacks start at the age of 3-12 years and can affect either eye. They generally decrease in frequency and get milder with age. The disease is caused by variants affecting the gene represented in this entry. Deafness, autosomal dominant, 34, with or without inflammation (DFNA34) [MIM:617772] A form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA34 is a postlingual, slowly progressive form with variable severity and variable additional features. Some DFNA34 patients have autoinflammatory manifestations. The disease may be caused by variants affecting the gene represented in this entry.

Activity regulation. Under resting conditions, NLRP3 binds ADP and is autoinhibited. Inactive NLRP3 forms homodecameric double-ring cages that hide pyrin domains within NACHT-LRR rings to avoid premature activation. NLRP3 activation stimuli include extracellular ATP, nigericin, reactive oxygen species, crystals of monosodium urate or cholesterol, amyloid-beta fibers, environmental or industrial particles and nanoparticles, such as asbestos, silica, aluminum salts, cytosolic dsRNA, etc. Activated upon human coronavirus SARS-CoV-2 infection. Almost all stimuli trigger intracellular K(+) efflux. These stimuli lead to membrane perturbations that induce activation of NLRP3. Upon activation, NLRP3 is transported to microtubule organizing center (MTOC), where it is unlocked by NEK7, leading to its relocalization to dispersed trans-Golgi network (dTGN) vesicle membranes and recruitment of PYCARD/ASC for the formation of an active inflammasome complex. NEK7-activated NLRP3 forms a disk-shaped inflammasome. NLRP3 and PYCARD/ASC interact via their respective pyrin domains; interaction initiates speck formation (nucleation) which greatly enhances further addition of soluble PYCARD/ASC molecules to the speck in a prion-like polymerization process. Clustered PYCARD/ASC nucleates the formation of CASP1 filaments through the interaction of their respective CARD domains, acting as a platform for CASP1 polymerization and activation. Active CASP1 then processes IL1B and IL18 precursors, leading to the release of mature cytokines in the extracellular milieu and inflammatory response. NLRP3 inflammasome assembly is inhibited by IRGM, which impedes NLRP3 oligomerization. NLRP3 inflammasome is activated by cyclic di-AMP (c-di-AMP) and cyclic di-GMP (c-di-GMP), which enhance polymerization. NLRP3 inflammasome is inhibited by cyclic AMP (cAMP), which directly binds NLRP3; inhibition is relieved by calcium-sensing receptor CASR, which inhibits production of cAMP. Specifically inhibited by sulfonylurea MCC950 (also named CP-456,773, CRID3), a potent and specific small-molecule inhibitor of the NLRP3 inflammasome that acts by preventing ATP hydrolysis.

Domain organisation. The pyrin domain (also called DAPIN domain or PYD) is involved in PYCARD/ASC-binding. The FISNA domain is a critical mediator of NLRP3 conformational during NLRP3 activation. It becomes ordered in its key regions during activation to stabilize the active NACHT conformation and mediate most interactions in the NLRP3 disk. The LRR domain mediates the interaction with IRF4, PML, NEK7 and NR4A1/Nur77. The KFERQ-like motifs mediate binding to HSPA8/HSC70 following NLRP3 paylmitoylation by ZDHHC12.

Induction. By activators of Toll-like receptors, such as lipoteichoic acid (LTA) (TLR2), polyinosine-polycytidylic acid (poly(I:C), a synthetic analog of dsRNA) (TLR3) and bacterial lipopolysaccharides (LPS) (TLR4), and by TNF. Up-regulated in osteoblasts after exposure to invasive, but not invasion-defective, strains of Salmonella typhimurium (at protein level). In macrophages, up-regulated by endocannabinoid anandamide/AEA. (Microbial infection) In COVID-19 patient derived macrophages, expression is induced by SARS-CoV-2 spike protein, probably via TLR2 (at protein level).

Similarity. Belongs to the NLRP family.

Isoforms (6)

UniProt IDNamesCanonical?
Q96P20-12yes
Q96P20-21
Q96P20-33
Q96P20-44
Q96P20-55
Q96P20-66

RefSeq proteins (6): NP_001073289, NP_001120933, NP_001120934, NP_001230062, NP_004886, NP_899632 (=MANE)

Domains & families (InterPro)

IDNameType
IPR001611Leu-rich_rptRepeat
IPR004020DAPINDomain
IPR007111NACHT_NTPaseDomain
IPR011029DEATH-like_dom_sfHomologous_superfamily
IPR027417P-loop_NTPaseHomologous_superfamily
IPR029495NACHT-assocDomain
IPR032675LRR_dom_sfHomologous_superfamily
IPR041075NOD1/2_WHDomain
IPR041267NLRP_HD2Domain
IPR050637NLRP_innate_immun_regFamily

Pfam: PF02758, PF05729, PF13516, PF14484, PF17776, PF17779

Catalyzed reactions (Rhea), 1 shown:

  • ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)

UniProt features (264 total): mutagenesis site 77, helix 49, strand 34, sequence variant 34, modified residue 20, repeat 9, sequence conflict 7, turn 6, cross-link 6, lipid moiety-binding region 5, short sequence motif 4, splice variant 4, domain 3, binding site 3, chain 1, region of interest 1, disulfide bond 1

Structure

Experimental structures (PDB)

24 structures.

PDBMethodResolution (Å)
3QF2X-RAY DIFFRACTION1.7
9GU4X-RAY DIFFRACTION2.7
8WSMX-RAY DIFFRACTION2.7
9HG4X-RAY DIFFRACTION2.77
8RI2X-RAY DIFFRACTION2.8
7ALVX-RAY DIFFRACTION2.83
9MGYELECTRON MICROSCOPY2.9
9SFGX-RAY DIFFRACTION3.2
7VTPELECTRON MICROSCOPY3.23
8ERTELECTRON MICROSCOPY3.3
8ZEMX-RAY DIFFRACTION3.32
8SWFELECTRON MICROSCOPY3.39
7ZGUELECTRON MICROSCOPY3.4
8EJ4ELECTRON MICROSCOPY3.4
8ETRELECTRON MICROSCOPY3.5
7PZDELECTRON MICROSCOPY3.6
9MIGELECTRON MICROSCOPY3.6
9DH3ELECTRON MICROSCOPY3.76
6NPYELECTRON MICROSCOPY3.8
7PZCELECTRON MICROSCOPY3.9
9MIEELECTRON MICROSCOPY3.93
8SXNELECTRON MICROSCOPY4.04
8SWKELECTRON MICROSCOPY4.32
2NAQSOLUTION NMR

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q96P20-F181.160.47

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (3): 169; 226–234; 522

Post-translational modifications (31): 5, 13, 136, 140, 143, 161, 163, 168, 198, 198, 201, 265, 295, 334, 728, 735, 806, 861, 975, 1035 …

Disulfide bonds (1): 8–108

Mutagenesis-validated functional residues (77):

PositionPhenotype
24complete loss of pycard/asc filament nucleation; when associated with e-23.
27impaired ability to homooligomerize into ordered polymers. complete loss of pycard/asc filament nucleation.
31impaired ability to homooligomerize into ordered polymers. decreased pycard/asc filament nucleation.
43impaired ability to homooligomerize into ordered polymers.
43complete loss of pycard/asc filament nucleation. decreased pycard/asc filament nucleation.
51does not affect ability to homooligomerize into ordered polymers.
52decreased interaction with mapk4.
64complete loss of pycard/asc filament nucleation.
68does not affect ubiquitination by the scf(fbxl2) complex.
73decreased ubiquitination by the scf(fbxl2) complex.
77induces the formation of short but ordered homopolymers.
80impaired ability to homooligomerize into ordered polymers. decreased pycard/asc filament nucleation.
81impaired ability to homooligomerize into ordered polymers. decreased pycard/asc filament nucleation.
82complete loss of pycard/asc filament nucleation.
130decreased palmitoylation and activation of the nlrp3 inflammasome; when associated with a-958.
136–143decreased phosphorylation by btk; when associated with f-168.
143decreased ability to activate the nlrp3 inflammasome.
147impaired ability to activate the nlrp3 inflammasome.
152impaired ability to activate the nlrp3 inflammasome.
155impaired ability to activate the nlrp3 inflammasome.
157impaired ability to activate the nlrp3 inflammasome.
166impaired ability to activate the nlrp3 inflammasome.
168decreased phosphorylation by btk; when associated with 136-f–f-143.
176impaired ability to activate the nlrp3 inflammasome.
198abolished phosphorylation by mapk8/jnk1; decreased activation of the nlrp3 inflammasome.

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

IDPathway
R-HSA-5689901Metalloprotease DUBs
R-HSA-844456The NLRP3 inflammasome
R-HSA-9660826Purinergic signaling in leishmaniasis infection
R-HSA-9692916SARS-CoV-1 activates/modulates innate immune responses
R-HSA-9705671SARS-CoV-2 activates/modulates innate and adaptive immune responses
R-HSA-9707564Cytoprotection by HMOX1
R-HSA-9860927Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells

MSigDB gene sets: 911 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_RESPONSE_TO_ETHANOL, GOBP_GLUTAMATE_SECRETION, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_CELLULAR_RESPONSE_TO_VIRUS, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_POSITIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_BEHAVIOR, GOBP_REGULATION_OF_ALPHA_BETA_T_CELL_ACTIVATION, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, GOBP_REGULATION_OF_BLOOD_PRESSURE, GOBP_RESPONSE_TO_ELECTRICAL_STIMULUS, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_NEGATIVE_REGULATION_OF_INTERLEUKIN_1_PRODUCTION

GO Biological Process (39): pattern recognition receptor signaling pathway (GO:0002221), negative regulation of acute inflammatory response (GO:0002674), positive regulation of type 2 immune response (GO:0002830), apoptotic process (GO:0006915), defense response (GO:0006952), inflammatory response (GO:0006954), signal transduction (GO:0007165), osmosensory signaling pathway (GO:0007231), detection of biotic stimulus (GO:0009595), negative regulation of interleukin-1 beta production (GO:0032691), positive regulation of interleukin-1 beta production (GO:0032731), positive regulation of interleukin-4 production (GO:0032753), NLRP3 inflammasome complex assembly (GO:0044546), innate immune response (GO:0045087), positive regulation of T-helper 2 cell differentiation (GO:0045630), positive regulation of transcription by RNA polymerase II (GO:0045944), regulation of inflammatory response (GO:0050727), negative regulation of inflammatory response (GO:0050728), positive regulation of inflammatory response (GO:0050729), obsolete positive regulation of NF-kappaB transcription factor activity (GO:0051092), protein homooligomerization (GO:0051260), protein maturation (GO:0051604), pyroptotic inflammatory response (GO:0070269), cellular response to lipopolysaccharide (GO:0071222), cellular response to virus (GO:0098586), negative regulation of non-canonical NF-kappaB signal transduction (GO:1901223), positive regulation of non-canonical NF-kappaB signal transduction (GO:1901224), positive regulation of T-helper 2 cell cytokine production (GO:2000553), immune system process (GO:0002376), acute inflammatory response (GO:0002526), positive regulation of cytokine production involved in immune response (GO:0002720), regulation of DNA-templated transcription (GO:0006355), response to virus (GO:0009615), positive regulation of interleukin-13 production (GO:0032736), positive regulation of interleukin-5 production (GO:0032754), defense response to Gram-positive bacterium (GO:0050830), defense response to virus (GO:0051607), cellular response to peptidoglycan (GO:0071224), positive regulation of T-helper 17 cell differentiation (GO:2000321)

GO Molecular Function (18): ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), protein-macromolecule adaptor activity (GO:0030674), signaling adaptor activity (GO:0035591), identical protein binding (GO:0042802), peptidoglycan binding (GO:0042834), ADP binding (GO:0043531), sequence-specific DNA binding (GO:0043565), molecular adaptor activity (GO:0060090), phosphatidylinositol-4-phosphate binding (GO:0070273), DNA-binding transcription factor binding (GO:0140297), molecular sensor activity (GO:0140299), cysteine-type endopeptidase activator activity (GO:0140608), molecular condensate scaffold activity (GO:0140693), phosphatidylinositol phosphate binding (GO:1901981), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (15): Golgi membrane (GO:0000139), extracellular region (GO:0005576), nucleus (GO:0005634), cytoplasm (GO:0005737), mitochondrion (GO:0005739), endoplasmic reticulum (GO:0005783), microtubule organizing center (GO:0005815), cytosol (GO:0005829), membrane (GO:0016020), interphase microtubule organizing center (GO:0031021), NLRP3 inflammasome complex (GO:0072559), Golgi apparatus (GO:0005794), cytoskeleton (GO:0005856), endomembrane system (GO:0012505), canonical inflammasome complex (GO:0061702)

Reactome top-level categories

Rollup of top-7 pathways:

CategoryPathways
Deubiquitination1
Inflammasomes1
Cell recruitment (pro-inflammatory response)1
SARS-CoV-1-host interactions1
SARS-CoV-2-host interactions1
Cellular response to chemical stress1
Response of endothelial cells to shear stress1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure6
intracellular membrane-bounded organelle4
cytoplasm4
inflammatory response3
interleukin-1 beta production2
regulation of interleukin-1 beta production2
regulation of inflammatory response2
adenyl ribonucleotide binding2
protein binding2
protein-macromolecule adaptor activity2
anion binding2
binding2
endomembrane system2
innate immune response-activating signaling pathway1
acute inflammatory response1
regulation of acute inflammatory response1
negative regulation of inflammatory response1
regulation of type 2 immune response1
type 2 immune response1
positive regulation of immune response1
programmed cell death1
apoptotic signaling pathway1
execution phase of apoptosis1
response to stress1
defense response1
cell communication1
cellular process1
signaling1
regulation of cellular process1
cellular response to stimulus1
intracellular signal transduction1
cellular response to osmotic stress1
response to biotic stimulus1
detection of stimulus1
negative regulation of interleukin-1 production1
positive regulation of interleukin-1 production1
positive regulation of cytokine production1
interleukin-4 production1
regulation of interleukin-4 production1
canonical inflammasome complex assembly1

Protein interactions and networks

STRING

3440 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
NLRP3PYCARDQ9ULZ3999
NLRP3AIM2O14862999
NLRP3CASP1P29466999
NLRP3NLRC4Q9NPP4999
NLRP3TXNIPQ9H3M7995
NLRP3NEK7Q8TDX7994
NLRP3MEFVO15553990
NLRP3NLRP1Q9C000986
NLRP3NLRP6P59044985
NLRP3NLRP7Q8WX94984
NLRP3DHX33Q9H6R0983
NLRP3NLRP12P59046983
NLRP3MAVSQ7Z434983
NLRP3CARD8Q9Y2G2976
NLRP3NAIPQ13075965

IntAct

93 interactions, top by confidence:

ABTypeScore
NLRP3PYCARDpsi-mi:“MI:0407”(direct interaction)0.950
PYCARDNLRP3psi-mi:“MI:0915”(physical association)0.950
NLRP3PYCARDpsi-mi:“MI:0915”(physical association)0.950
NLRP3PYCARDpsi-mi:“MI:0403”(colocalization)0.950
PYCARDNLRP3psi-mi:“MI:0403”(colocalization)0.950
PYCARDNLRP3psi-mi:“MI:0407”(direct interaction)0.950
PYCARDCASP1psi-mi:“MI:0914”(association)0.860
NLRP3NLRP3psi-mi:“MI:0915”(physical association)0.690
NLRP3NLRP3psi-mi:“MI:0407”(direct interaction)0.690
NLRP3NEK7psi-mi:“MI:0915”(physical association)0.680
CARD8NLRP3psi-mi:“MI:0915”(physical association)0.640
NLRP3CARD8psi-mi:“MI:0915”(physical association)0.640
NLRP3CARD8psi-mi:“MI:0914”(association)0.640

BioGRID (264): NLRP3 (Affinity Capture-Western), MCFD2 (Co-fractionation), NLRP3 (Co-fractionation), NLRP3 (Co-fractionation), NLRP3 (Affinity Capture-Western), FBXL2 (Affinity Capture-Western), NLRP3 (Biochemical Activity), HIST1H1B (Affinity Capture-MS), HNRNPC (Affinity Capture-MS), RBBP7 (Affinity Capture-MS), SNRPB (Affinity Capture-MS), SPAST (Affinity Capture-MS), TOP1 (Affinity Capture-MS), LTBP4 (Affinity Capture-MS), SMARCA5 (Affinity Capture-MS)

ESM2 similar proteins: A1Z198, A6QLE5, B0FPE9, D4A523, D9I2F9, D9I2G1, D9I2G3, D9I2G4, D9I2H0, E9Q5G7, E9Q5R7, P59045, P59046, P59047, Q0GKD5, Q288C4, Q2LKU9, Q2LKV2, Q2LKV5, Q2LKW6, Q3TKR3, Q3UWY1, Q63035, Q647I9, Q66X01, Q66X03, Q66X05, Q66X19, Q66X22, Q6B966, Q7RTR0, Q7TPX8, Q86W24, Q86W25, Q86W26, Q86W28, Q8BU40, Q8BVP1, Q8C6J9, Q8CCN1

Diamond homologs: A0A386CAB9, A6QLE5, B0FPE9, D4A523, Q1MT80, Q2LKV2, Q86W26, Q8CCN1, Q8R4B8, Q96P20, Q9I9N6, A1Z198, A8Y3R9, D9I2F9, D9I2G1, D9I2G3, D9I2G4, D9I2H0, E9Q5R7, P10775, P13489, P29315, P59044, P59046, P59047, Q0GKD5, Q2LKU9, Q2LKV5, Q2LKW6, Q5RAV7, Q63035, Q6B966, Q86W24, Q86W25, Q8HXK9, Q8HZP9, Q91VI7, Q91WS2, Q9C000, Q9EPB4

SIGNOR signaling

20 interactions.

AEffectBMechanism
KCNJ8“down-regulates activity”NLRP3binding
FBXL2“down-regulates quantity by destabilization”NLRP3binding
“Cullin 1-RBX1-Skp1”“down-regulates quantity by destabilization”NLRP3polyubiquitination
PTPN22“up-regulates activity”NLRP3dephosphorylation
PAK1“up-regulates activity”NLRP3phosphorylation
LYNdown-regulatesNLRP3phosphorylation
PELI2“up-regulates activity”NLRP3ubiquitination
TRIM65“down-regulates activity”NLRP3ubiquitination
TRIM31“down-regulates quantity by destabilization”NLRP3ubiquitination
ARIH2“up-regulates activity”NLRP3ubiquitination
PRKD1“up-regulates activity”NLRP3phosphorylation
MicroRNA-223“down-regulates quantity by destabilization”NLRP3“post transcriptional regulation”
MAPK8“up-regulates activity”NLRP3phosphorylation
MINK1“up-regulates activity”NLRP3phosphorylation
NLRP3“form complex”“NLRP3 inflammasome”binding
ROS“up-regulates activity”NLRP3
TLRs“up-regulates quantity by expression”NLRP3
PKA“down-regulates activity”NLRP3phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 23 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
Viral Infection Pathways59.1×3e-03
Infectious disease57.3×6e-03

GO biological processes:

GO termPartnersFoldFDR
defense response to virus518.2×8e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

1254 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic26
Likely pathogenic28
Uncertain significance626
Likely benign305
Benign69

Top pathogenic / likely-pathogenic (30)

Variant IDHGVSClassification
2029953NM_001243133.2(NLRP3):c.779_780delinsCG (p.Arg260Pro)Pathogenic
2109144NM_001243133.2(NLRP3):c.1305G>C (p.Lys435Asn)Pathogenic
2203018NM_001243133.2(NLRP3):c.2263G>A (p.Gly755Arg)Pathogenic
234301NM_001243133.2(NLRP3):c.1705G>A (p.Gly569Arg)Pathogenic
2691257NM_001243133.2(NLRP3):c.29G>T (p.Arg10Met)Pathogenic
3633876NM_001243133.2(NLRP3):c.1698C>G (p.Phe566Leu)Pathogenic
429285NM_001243133.2(NLRP3):c.1065A>C (p.Lys355Asn)Pathogenic
4374NM_001243133.2(NLRP3):c.778C>T (p.Arg260Ter)Pathogenic
4376NM_001243133.2(NLRP3):c.1718T>C (p.Phe573Ser)Pathogenic
4377NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn)Pathogenic
4378NM_001243133.2(NLRP3):c.926T>C (p.Phe309Ser)Pathogenic
4379NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro)Pathogenic
643124NM_001243133.2(NLRP3):c.1976T>G (p.Met659Arg)Pathogenic
837881NM_001243133.2(NLRP3):c.905T>G (p.Phe302Cys)Pathogenic
849794NM_001243133.2(NLRP3):c.1217T>C (p.Met406Thr)Pathogenic
97909NM_001243133.2(NLRP3):c.1043C>T (p.Thr348Met)Pathogenic
97936NM_001243133.2(NLRP3):c.1568T>G (p.Phe523Cys)Pathogenic
97939NM_001243133.2(NLRP3):c.1573G>A (p.Glu525Lys)Pathogenic
97945NM_001243133.2(NLRP3):c.1706G>C (p.Gly569Ala)Pathogenic
97946NM_001243133.2(NLRP3):c.1709A>G (p.Tyr570Cys)Pathogenic
97979NM_001243133.2(NLRP3):c.907G>C (p.Asp303His)Pathogenic
97980NM_001243133.2(NLRP3):c.908A>G (p.Asp303Gly)Pathogenic
97981NM_001243133.2(NLRP3):c.910G>A (p.Glu304Lys)Pathogenic
97985NM_001243133.2(NLRP3):c.920G>T (p.Gly307Val)Pathogenic
97987NM_001243133.2(NLRP3):c.931G>A (p.Glu311Lys)Pathogenic
97992NM_001243133.2(NLRP3):c.977G>A (p.Gly326Glu)Pathogenic
1066319NM_001243133.2(NLRP3):c.1218G>A (p.Met406Ile)Likely pathogenic
1487108NM_001243133.2(NLRP3):c.1700A>C (p.Glu567Ala)Likely pathogenic
1694432NM_001243133.2(NLRP3):c.1562T>A (p.Met521Lys)Likely pathogenic
1694555NM_001243133.2(NLRP3):c.1690G>A (p.Gly564Ser)Likely pathogenic

SpliceAI

2115 predictions. Top by Δscore:

VariantEffectΔscore
1:247418746:T:Aacceptor_gain1.0000
1:247419073:GTGGG:Gdonor_gain1.0000
1:247423228:A:AGacceptor_gain1.0000
1:247423228:AG:Aacceptor_gain1.0000
1:247423229:G:GAacceptor_gain1.0000
1:247423229:GG:Gacceptor_gain1.0000
1:247423229:GGT:Gacceptor_gain1.0000
1:247423229:GGTT:Gacceptor_gain1.0000
1:247423229:GGTTC:Gacceptor_gain1.0000
1:247423309:G:GTdonor_gain1.0000
1:247423345:GAAAG:Gdonor_gain1.0000
1:247423350:GTA:Gdonor_loss1.0000
1:247423351:T:Gdonor_loss1.0000
1:247423845:A:AGacceptor_gain1.0000
1:247423846:G:GGacceptor_gain1.0000
1:247434093:T:Aacceptor_gain1.0000
1:247444143:G:GGdonor_gain1.0000
1:247444818:TGGGG:Tdonor_loss1.0000
1:247444819:GGG:Gdonor_gain1.0000
1:247444819:GGGGT:Gdonor_loss1.0000
1:247444820:GG:Gdonor_gain1.0000
1:247444820:GGG:Gdonor_gain1.0000
1:247444820:GGGTG:Gdonor_loss1.0000
1:247444821:GG:Gdonor_gain1.0000
1:247444822:G:Tdonor_loss1.0000
1:247444823:T:Adonor_loss1.0000
1:247448253:G:GTdonor_gain1.0000
20:3084550:AGTAC:Adonor_loss1.0000
20:3084551:GTA:Gdonor_loss1.0000
20:3084552:TA:Tdonor_loss1.0000

AlphaMissense

6881 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
1:247424138:A:TK232I0.998
1:247424141:C:TT233I0.998
1:247424135:G:AG231E0.997
1:247424119:G:AG226R0.996
1:247424119:G:CG226R0.996
1:247424119:G:TG226W0.995
1:247424135:G:TG231V0.995
1:247425178:T:CF579L0.995
1:247425180:C:AF579L0.995
1:247425180:C:GF579L0.995
1:247424134:G:TG231W0.994
1:247424170:T:AW243R0.994
1:247424170:T:CW243R0.994
1:247424678:C:GP412R0.994
1:247424686:T:CC415R0.994
1:247424700:C:GC419W0.994
1:247424861:C:AA473D0.994
1:247444052:T:CL917P0.994
1:247424120:G:AG226E0.993
1:247424129:G:AG229E0.993
1:247424137:A:CK232Q0.993
1:247424139:A:CK232N0.993
1:247424139:A:TK232N0.993
1:247424561:T:CF373S0.993
1:247424668:T:CC409R0.993
1:247424678:C:AP412H0.993
1:247425001:T:CF520L0.993
1:247425003:C:AF520L0.993
1:247425003:C:GF520L0.993
1:247424670:C:GC409W0.992

dbSNP variants (sampled 300 via entrez): RS1000031952 (1:247449211 A>G), RS1000168734 (1:247430451 A>G), RS1000171339 (1:247419700 C>T), RS1000191329 (1:247446237 CAA>C), RS1000401898 (1:247421982 A>G), RS1000437849 (1:247435942 G>A), RS1000560026 (1:247426570 C>T), RS1000750378 (1:247435904 T>G), RS1000836078 (1:247422233 G>A), RS1000895302 (1:247420002 A>G), RS1000937968 (1:247437239 T>C), RS1000970524 (1:247437545 A>G), RS1001096949 (1:247431586 G>A), RS1001134473 (1:247442926 CTATT>C,CTATTTATT), RS1001145469 (1:247420722 A>C,G,T)

Disease associations

OMIM: gene MIM:606416 | disease phenotypes: MIM:120100, MIM:148200, MIM:191900, MIM:607115, MIM:617772, MIM:108010

GenCC curated gene-disease

DiseaseClassificationInheritance
CINCA syndromeDefinitiveAutosomal dominant
cryopyrin-associated periodic syndromeDefinitiveAutosomal dominant
familial cold autoinflammatory syndromeDefinitiveAutosomal dominant
familial cold autoinflammatory syndrome 1StrongAutosomal dominant
Muckle-Wells syndromeSupportiveAutosomal dominant
keratitis fugax hereditariaLimitedAutosomal dominant

Mondo (18): familial cold autoinflammatory syndrome 1 (MONDO:0007349), keratitis fugax hereditaria (MONDO:0007849), Muckle-Wells syndrome (MONDO:0008633), CINCA syndrome (MONDO:0011776), cryopyrin-associated periodic syndrome (MONDO:0016168), hearing loss, autosomal dominant 34, with or without inflammation (MONDO:0033261), autoinflammatory syndrome (MONDO:0019751), cleft palate (MONDO:0016064), lung adenocarcinoma (MONDO:0005061), squamous cell carcinoma (MONDO:0005096), focal segmental glomerulosclerosis (MONDO:0100313), long COVID-19 (MONDO:0100233), arteriovenous malformations of the brain (MONDO:0007154), atypical hemolytic-uremic syndrome (MONDO:0016244), pericardial effusion (MONDO:0001370)

Orphanet (10): CINCA syndrome (Orphanet:1451), NLRP3-associated autoinflammatory disease (Orphanet:208650), Familial cold urticaria (Orphanet:47045), Muckle-Wells syndrome (Orphanet:575), Keratitis fugax hereditaria (Orphanet:647815), Autoinflammatory syndrome (Orphanet:93665), Cleft palate (Orphanet:2014), Brain arteriovenous malformation (Orphanet:46724), Atypical hemolytic uremic syndrome (Orphanet:2134), NON RARE IN EUROPE: Adenocarcinoma of the lung (Orphanet:415268)

HPO phenotypes

109 total (30 of 109 shown, HPO-id order):

HPOTerm
HP:0000006Autosomal dominant inheritance
HP:0000078Abnormality of the genital system
HP:0000083Renal insufficiency
HP:0000100Nephrotic syndrome
HP:0000112Nephropathy
HP:0000174Abnormal palate morphology
HP:0000256Macrocephaly
HP:0000365Hearing impairment
HP:0000366Abnormality of the nose
HP:0000407Sensorineural hearing impairment
HP:0000408Progressive sensorineural hearing impairment
HP:0000491Keratitis
HP:0000501Glaucoma
HP:0000505Visual impairment
HP:0000509Conjunctivitis
HP:0000520Proptosis
HP:0000538Pseudopapilledema
HP:0000554Uveitis
HP:0000613Photophobia
HP:0000618Blindness
HP:0000622Blurred vision
HP:0000648Optic atrophy
HP:0000823Delayed puberty
HP:0000969Edema
HP:0000975Hyperhidrosis
HP:0000979Purpura
HP:0000988Skin rash
HP:0000989Pruritus
HP:0001004Lymphedema
HP:0001025Urticaria

GWAS associations

33 associations (top):

StudyTraitp-value
GCST000366_4Fibrinogen1.000000e-08
GCST000965_16C-reactive protein levels1.000000e-15
GCST002060_15Word reading8.000000e-06
GCST002147_17Fibrinogen1.000000e-19
GCST003194_14Fibrinogen levels6.000000e-29
GCST004063_87Waist circumference adjusted for body mass index9.000000e-13
GCST004121_16Fibrinogen levels1.000000e-21
GCST004122_33Fibrinogen levels1.000000e-20
GCST004603_201Platelet count7.000000e-12
GCST004610_38White blood cell count6.000000e-18
GCST004613_6Sum neutrophil eosinophil counts3.000000e-19
GCST004614_123Granulocyte count2.000000e-18
GCST004620_104Sum basophil neutrophil counts2.000000e-18
GCST004626_11Myeloid white cell count1.000000e-18
GCST004629_18Neutrophil count3.000000e-19
GCST004633_100Neutrophil percentage of white cells2.000000e-09
GCST007614_12C-reactive protein levels4.000000e-21
GCST007615_11C-reactive protein levels6.000000e-25
GCST007615_65C-reactive protein levels9.000000e-24
GCST007615_66C-reactive protein levels4.000000e-11
GCST90002390_345Mean corpuscular hemoglobin2.000000e-09
GCST90002394_109Monocyte percentage of white cells1.000000e-13
GCST90002398_518Neutrophil count1.000000e-29
GCST90002399_23Neutrophil percentage of white cells2.000000e-13
GCST90002400_548Plateletcrit1.000000e-15
GCST90002402_269Platelet count4.000000e-11
GCST90002404_6Red cell distribution width4.000000e-09
GCST90002407_208White blood cell count4.000000e-12
GCST90002407_209White blood cell count4.000000e-31
GCST90011898_34Alanine aminotransferase levels2.000000e-14

EFO canonical traits (15, from GWAS)

EFO IDTrait name
EFO:0004458C-reactive protein measurement
EFO:0005300word reading
EFO:0007789BMI-adjusted waist circumference
EFO:0004309platelet count
EFO:0004833neutrophil count
EFO:0004842eosinophil count
EFO:0007987granulocyte count
EFO:0005090basophil count
EFO:0007990neutrophil percentage of leukocytes
EFO:0004527mean corpuscular hemoglobin
EFO:0007989monocyte percentage of leukocytes
EFO:0007985platelet crit
EFO:0009188Red cell distribution width
EFO:0004736aspartate aminotransferase measurement
EFO:0004533alkaline phosphatase measurement

MeSH disease descriptors (11)

DescriptorNameTree numbers
D065766Atypical Hemolytic Uremic SyndromeC12.050.351.968.419.936.463.500; C12.200.777.419.936.463.500; C12.950.419.936.463.500; C15.378.050.141.610.500; C15.378.140.855.925.500.500; C15.378.243.937.925.500.500
D002294Carcinoma, Squamous CellC04.557.470.200.400; C04.557.470.700.400
D002972Cleft PalateC05.500.460.185; C05.660.207.540.460.185; C07.320.440.185; C07.465.525.185; C07.650.500.460.185; C07.650.525.185; C16.131.621.207.540.460.185; C16.131.850.500.460.185; C16.131.850.525.185
D056587Cryopyrin-Associated Periodic SyndromesC16.320.382.500; C17.800.827.368.500; C17.800.862.945.533.500.500; C17.800.862.945.766.500; C20.543.480.904.533.500.500; C20.543.480.904.766.500; C23.550.291.500.360.500.500
D005923Glomerulosclerosis, Focal SegmentalC12.050.351.968.419.570.363.640; C12.200.777.419.570.363.660; C12.950.419.570.363.640
D034381Hearing LossC09.218.458.341; C10.597.751.418.341; C23.888.592.763.393.341
D002538Intracranial Arteriovenous MalformationsC10.228.140.300.520; C10.500.190.500; C14.240.850.750.295; C14.240.850.875.500; C14.907.150.295; C14.907.253.560.400; C16.131.240.850.750.295; C16.131.240.850.875.500; C16.131.666.190.500
D007674Kidney DiseasesC12.050.351.968.419; C12.200.777.419; C12.950.419
D010490Pericardial EffusionC14.280.695
D000094024Post-Acute COVID-19 SyndromeC01.748.610.763.500.500; C01.925.705.500.500; C01.925.782.600.550.200.163.500; C08.381.677.807.500.500; C08.730.610.763.500.500; C23.550.291.500.829.375
C563650Keratitis Fugax Hereditaria (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL1741208 (SINGLE PROTEIN), CHEMBL6195683 (PROTEIN-PROTEIN INTERACTION)

Molecules with ChEMBL bioactivity

11 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 164,479 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

MoleculeNamePhasePatents
CHEMBL2355051CLOMIPHENE436
CHEMBL472GLYBURIDE453,236
CHEMBL140CURCUMIN393,882
CHEMBL5219660JT-00139
CHEMBL1076347TRICLOCARBAN215,622
CHEMBL236150CLIOXANIDE21,112
CHEMBL3989943DAPANSUTRILE2480
CHEMBL5314548USNOFLAST211
CHEMBL4650350INZOMELID164
CHEMBL5095170BMS-986299120
CHEMBL5409389NT-079617

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

2 variants.

VariantGenesLevelScore#Clin annotsDrugs
rs10754558NLRP30.000
rs4612666NLRP30.000

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: catalytic receptor — NOD-like receptor family

Most potent curated ligand interactions (15 total), top 15:

LigandActionAffinityParameter
NT-0796Inhibition9.49pIC50
compound 17 [WO2024240153]Inhibition9.0pIC50
NLRP3 inhibitor 3 [PMID: 33255820]Inhibition8.9pIC50
NP3-742Inhibition8.22pIC50
MCC950Inhibition8.0pIC50
NT-0249Inhibition7.96pIC50
GDC-2394Inhibition7.29pIC50
oridoninInhibition7.28pKd
NDT-19795Inhibition7.18pIC50
oridonin derivative 32 [PMID: 38751194]Inhibition7.11pIC50
compound 15z [PMID: 38029358]Inhibition6.89pIC50
emlenoflastInhibition6.85pIC50
CP-424,174Inhibition6.59pIC50
CY-09Inhibition6.3pKd
selnoflastInhibition6.0pIC50

Binding affinities (BindingDB)

320 measured of 646 human assays (655 total across all organisms); most potent 50 below. Values come from heterogeneous assays and are not directly comparable.

LigandMeasureValuePatent
2-(4-cyclopropyl-2,6-dimethylphenyl)-6-(1,3-thiazol-4-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC502 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-(4-iodo-2,6-dimethylphenyl)-6-(1-methylpyrazol-3-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC502.5 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-[4-(1,1-difluoroethyl)-2,6-dimethylphenyl]-6-(1,3-thiazol-4-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC503 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-[4-(1-fluorocyclopropyl)-2,6-dimethylphenyl]-6-(1-methylpyrazol-3-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC503.1 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-(4-cyclopropyl-2,6-dimethylphenyl)-6-pyrimidin-4-yl-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC504.3 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-(4-cyclopropyl-2,6-dimethylphenyl)-6-(4-methyl-1,3-thiazol-2-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC506 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-[4-cyclopropyl-2-(methoxymethyl)-6-methylphenyl]-6-(1-methylpyrazol-3-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC506.3 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-(4-cyclopropyl-2,6-dimethylphenyl)-6-(1-methylpyrazol-4-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC506.7 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-(4-bromo-2,6-dimethylphenyl)-6-pyrimidin-4-yl-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC507.8 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-(4-cyclopropyl-2,6-dimethylphenyl)-6-(6,7-dihydro-4H-pyrazolo[5,1-c][1,4]oxazin-2-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC509 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-(4-cyclopropyl-2,6-dimethylphenyl)-6-(5,6-dihydro-4H-pyrrolo[2,1-e]pyrazol-2-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC509 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
CHEMBL5439444IC5011 nM
2-(4-cyclopropyl-2,6-dimethylphenyl)-6-pyridazin-4-yl-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5011 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
CHEMBL5397618IC5012 nM
2-(4-cyclopropyl-2,6-dimethylphenyl)-6-(1-methyltriazol-4-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5012 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-(4-bromo-2,6-dimethylphenyl)-6-(1-methyltriazol-4-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5013 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-[4-(1,1-difluoroethyl)-2,6-dimethylphenyl]-6-pyrimidin-4-yl-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5014 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-(4-cyclopropyl-2,6-dimethylphenyl)-6-(1-methylpyrazol-3-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5015 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-(4-bromo-2,6-dimethylphenyl)-6-pyridazin-4-yl-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5015 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-(4-bromo-2,6-dimethylphenyl)-6-(5-methyl-1,2-oxazol-3-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5015 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-(4-cyclopropyl-2,6-dimethylphenyl)-6-(4-fluoro-1-methylpyrazol-3-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5015 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-(4-cyclopropyl-2,6-dimethylphenyl)-6-(3-fluoro-4-pyridinyl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5016 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-(4-bromo-2,6-dimethylphenyl)-6-(1-methylpyrazol-4-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5018 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-(4-bromo-2,6-dimethylphenyl)-6-(1-methylpyrazol-3-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5020 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-(4-bromo-2,6-dimethylphenyl)-6-pyridazin-3-yl-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5022 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-[2,6-dimethyl-4-(trifluoromethyl)phenyl]-6-(3-fluoro-4-pyridinyl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5022 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-(4-cyclopropyl-2,6-dimethylphenyl)-6-(2-methylpyrazol-3-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5023 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-(4-cyclopropyl-2,6-dimethylphenyl)-6-[1-(2-methoxyethyl)pyrazol-3-yl]-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5023 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-(4-cyclopropyl-2,6-dimethylphenyl)-6-(1-methylimidazol-4-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5023 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
1-[amino-[4-(2-hydroxypropan-2-yl)-5-methylfuran-2-yl]-oxo-lambda6-sulfanylidene]-3-[(1R)-1-methyl-1,2,3,5,6,7-hexahydro-s-indacen-4-yl]ureaIC5024 nMUS-11724992: Compounds and compositions for treating conditions associated with NLRP activity
2-(4-bromo-2,6-dimethylphenyl)-6-(3-fluoro-4-pyridinyl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5024 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-(4-cyclopropyl-2,6-dimethylphenyl)-6-(6,7-dihydro-5H-pyrazolo[5,1-b][1,3]oxazin-2-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5024 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-(4-bromo-2,6-dimethylphenyl)-6-(2-methoxypyrimidin-4-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5027 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-(4-cyclopropyl-2,6-dimethylphenyl)-6-(1H-pyrazol-5-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5029 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-[2,6-dimethyl-4-(1,1,2,2,2-pentafluoroethyl)phenyl]-6-(1-methylpyrazol-3-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5033 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-(6-chloro-2,3-dihydro-1H-inden-5-yl)-6-(1-methylpyrazol-3-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5034 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-(4-bromo-2,6-dimethylphenyl)-6-(4-fluoro-1-methylpyrazol-3-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5036 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-[4-cyclopropyl-2-(hydroxymethyl)-6-methylphenyl]-6-(1-methylpyrazol-3-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5037 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-(4-bromo-2,6-dimethylphenyl)-6-(1-ethylpyrazol-3-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5040 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-[4-(1,1-difluoroethyl)-2,6-dimethylphenyl]-6-(1-methylimidazol-4-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5040 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
1-(2-hydroxy-4-(trifluoromethyl)phenyl)-N- ((3R,5S)-5-methyl-1-(1H-tetrazol-5- yl)piperidin-3-yl)cyclopropane-1- carboxamideIC5041 nMUS-20260007684: AMIDE DERIVATIVES FOR INHIBITING NLRP3 AND USES THEREOF
(R)-1-(4-chloro-2-hydroxyphenyl)-N-(5,5- dimethyl-1-(1H-tetrazol-5-yl)piperidin-3- yl)cyclopropane-1-carboxamideIC5047 nMUS-20260007684: AMIDE DERIVATIVES FOR INHIBITING NLRP3 AND USES THEREOF
2-(4-bromo-2,6-dimethylphenyl)-6-[1-(2-methoxyethyl)pyrazol-3-yl]-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5047 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
1-(4-chloro-2-hydroxyphenyl)-N-((3R,5S)- 5-methyl-1-(1H-tetrazol-5-yl)piperidin-3- yl)cyclopropane-1-carboxamideIC5048 nMUS-20260007684: AMIDE DERIVATIVES FOR INHIBITING NLRP3 AND USES THEREOF
2-[4-(difluoromethoxy)-2,6-dimethylphenyl]-6-(1-methylpyrazol-3-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5049 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-(4-cyclopropyl-2,6-dimethylphenyl)-6-(1,4-dimethylpyrazol-3-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5050 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-(4-bromo-2,6-dimethylphenyl)-6-(2-methyl-1,3-oxazol-5-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5053 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
2-(4-cyclopropyl-2,6-dimethylphenyl)-6-[1-(difluoromethyl)pyrazol-3-yl]-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5055 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF
N-((1R,2R,6R)-9-(1H-tetrazol-5-yl)-9- azabicyclo[4.2.1]nonan-2-yl)-1-(4-chloro-2- hydroxyphenyl)cyclopropane-1- carboxamideIC5060 nMUS-20260007684: AMIDE DERIVATIVES FOR INHIBITING NLRP3 AND USES THEREOF
2-(4-cyclopropyl-2,6-dimethylphenyl)-6-[1-(oxetan-3-yl)pyrazol-3-yl]-5H-pyrazolo[3,4-d]pyrimidin-4-oneIC5062 nMUS-20250114361: PYRAZOLOPYRIMIDINE COMPOUND AND PHARMACEUTICAL USE THEREOF

ChEMBL bioactivities

977 potent at pChembl≥5 of 1069 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChemblTypeValueUnitMolecule
10.15IC500.07nMCHEMBL5419955
9.82IC500.15nMCHEMBL5408007
9.52IC500.3nMCHEMBL5429355
9.49IC500.32nMNT-0796
9.42IC500.38nMCHEMBL5435222
9.40IC500.4nMCHEMBL5422139
9.40IC500.4nMCHEMBL5426651
9.40IC500.4nMCHEMBL5414596
9.30IC500.5nMCHEMBL5408740
9.30IC500.5nMCHEMBL5425624
9.30IC500.5nMCHEMBL5438834
9.27Kd0.532nMCHEMBL3183703
9.25IC500.56nMCHEMBL5403928
9.24IC500.58nMCHEMBL5423228
9.22IC500.6nMCHEMBL5395560
9.22IC500.6nMCHEMBL5395866
9.22IC500.6nMCHEMBL5401306
9.21IC500.62nMCHEMBL5427865
9.10IC500.8nMCHEMBL5417431
9.10IC500.79nMCHEMBL5422375
9.07IC500.843nMCHEMBL5431540
9.00IC501nMCHEMBL5411537
9.00IC501nMCHEMBL5431981
9.00IC501nMCHEMBL5433380
9.00IC501nMCHEMBL5991941
9.00IC501nMCHEMBL5992744
9.00IC501nMCHEMBL5881090
8.96IC501.1nMCHEMBL5427670
8.92IC501.2nMCHEMBL5416002
8.89IC501.3nMCHEMBL6177577
8.74IC501.8nMCHEMBL5397239
8.74IC501.8nMCHEMBL5400478
8.74IC501.8nMCHEMBL6175164
8.72IC501.9nMCHEMBL5430786
8.70IC502nMCHEMBL5438164
8.70IC502nMCHEMBL5801636
8.70IC502nMCHEMBL6174073
8.68IC502.1nMNT-0796
8.68IC502.1nMCHEMBL6177729
8.64IC502.3nMCHEMBL5592444
8.59IC502.6nMCHEMBL6176278
8.54IC502.88nMCHEMBL5597392
8.52IC503nMCHEMBL5420448
8.52IC503nMCHEMBL5405701
8.52IC503nMCHEMBL5421060
8.52IC503nMCHEMBL5423671
8.52IC503nMCHEMBL5812129
8.52IC503nMCHEMBL6188441
8.52IC503nMCHEMBL6189801
8.51IC503.1nMCHEMBL5424780

PubChem BioAssay actives

693 with measured affinity, of 1954 total; 50 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

CompoundAssayTypeValueUnit
propan-2-yl (2R)-3-(4-cyanopyrazol-1-yl)-2-(1,2,3,5,6,7-hexahydro-s-indacen-4-ylcarbamoyloxy)propanoate2020850: Inhibition of NLRP3 inflammasome activation in LPS-activated human PBMC cells assessed as inhibition of ATP/nigericin induced IL-1beta secretion preincubated with LPS for 3 hrs followed by compound addition for 30 mins and further stimulated with ATP for 1 hr by ELISAic500.0001uM
5-[6-[(1-cyclobutylpiperidin-3-yl)amino]-4-methylpyridazin-3-yl]-1-benzothiophen-4-ol2037733: Inhibition of NLRP3 in human THP-1 cells assessed as reduction in IL-1beta production preincubated for 1 hrs followed by ATP addition measured after 18 hrsic500.0001uM
2-(4-chloro-9-oxo-12-propan-2-yl-5-thia-1,10,11-triazatricyclo[6.4.0.02,6]dodeca-2(6),3,7,11-tetraen-10-yl)-N-[(3R)-1-cyclobutylpiperidin-3-yl]acetamide2037746: Inhibition of NLRP3 in LPS/nigericin induced PMA-differentiated human THP-1 cells assessed as reduction in IL-1beta production measured after 3 hrsic500.0003uM
propan-2-yl (2R)-2-(1,2,3,5,6,7-hexahydro-s-indacen-4-ylcarbamoyloxy)-3-pyrimidin-2-ylpropanoate2020850: Inhibition of NLRP3 inflammasome activation in LPS-activated human PBMC cells assessed as inhibition of ATP/nigericin induced IL-1beta secretion preincubated with LPS for 3 hrs followed by compound addition for 30 mins and further stimulated with ATP for 1 hr by ELISAic500.0003uM
2-[4-methyl-6-[[(3R)-1-methylpiperidin-3-yl]amino]pyridazin-3-yl]-5-(trifluoromethyl)phenol2037724: Inhibition of NLRP3 in human THP-1 cells assessed as reduction in IL-1beta production measured after 3 hrsic500.0004uM
2-[6-[[(3R)-1-methylpiperidin-3-yl]amino]-4-(trifluoromethyl)pyridazin-3-yl]-5-(trifluoromethyl)phenol2037724: Inhibition of NLRP3 in human THP-1 cells assessed as reduction in IL-1beta production measured after 3 hrsic500.0004uM
5-cyclopropyl-2-[4-methyl-6-[[(3R)-1-methylpiperidin-3-yl]amino]pyridazin-3-yl]phenol2037751: Inhibition of NLRP3 in human PBMC cells assessed as reduction in TNFalpha level preincubated for 0.5 hrs followed by LPS treatment for 3.5 hrs and further addition of ATP measured after 45 minsic500.0004uM
5-chloro-2-[2-[[(3R)-1-ethylpiperidin-3-yl]amino]-[1,3]oxazolo[4,5-b]pyridin-5-yl]-3-methylphenol2010083: Inhibition of NLRP3 in human THP-1 cells assessed as reduction in pyroptosis preincubated for 3 hrs followed by nigericin addition and measured after 1 hr by resazurin dye based microplate reader analysisic500.0004uM
2-[2-[(3aR,7aS)-6-methyl-3,3a,4,5,7,7a-hexahydro-2H-pyrrolo[2,3-c]pyridin-1-yl]-[1,3]oxazolo[4,5-b]pyridin-5-yl]-5-chloro-3-methylphenol2010083: Inhibition of NLRP3 in human THP-1 cells assessed as reduction in pyroptosis preincubated for 3 hrs followed by nigericin addition and measured after 1 hr by resazurin dye based microplate reader analysisic500.0005uM
2-[3-[1-(3-hydroxyphenyl)ethylamino]-5-methyl-1,2,4-triazin-6-yl]-5-(trifluoromethyl)phenol2037753: Inhibition of NLRP3 in human THP-1 cells assessed as reduction in IL-1beta production preincubated for 15 mins followed by ATP/LPS addition measured after 2 hrs by ELISA assayic500.0005uM
5-chloro-2-[2-[[(3S)-1-ethylpiperidin-3-yl]amino]-[1,3]oxazolo[4,5-b]pyridin-5-yl]-3-methylphenol;2,2,2-trifluoroacetic acid2010083: Inhibition of NLRP3 in human THP-1 cells assessed as reduction in pyroptosis preincubated for 3 hrs followed by nigericin addition and measured after 1 hr by resazurin dye based microplate reader analysisic500.0005uM
1-(1,2,3,5,6,7-hexahydro-s-indacen-4-yl)-3-[4-(2-hydroxypropan-2-yl)furan-2-yl]sulfonylurea2072297: Binding affinity to NLRP3 (unknown origin) expressed in HEK293T cells incubated for 30 mins by MST assaykd0.0005uM
cyclopentyl (2R)-2-(1,2,3,5,6,7-hexahydro-s-indacen-4-ylcarbamoyloxy)-3-pyrimidin-2-ylpropanoate2020850: Inhibition of NLRP3 inflammasome activation in LPS-activated human PBMC cells assessed as inhibition of ATP/nigericin induced IL-1beta secretion preincubated with LPS for 3 hrs followed by compound addition for 30 mins and further stimulated with ATP for 1 hr by ELISAic500.0006uM
propan-2-yl (2R)-2-(1,2,3,5,6,7-hexahydro-s-indacen-4-ylcarbamoyloxy)-3-pyrazin-2-ylpropanoate2020850: Inhibition of NLRP3 inflammasome activation in LPS-activated human PBMC cells assessed as inhibition of ATP/nigericin induced IL-1beta secretion preincubated with LPS for 3 hrs followed by compound addition for 30 mins and further stimulated with ATP for 1 hr by ELISAic500.0006uM
propan-2-yl (2R)-2-(1,2,3,5,6,7-hexahydro-s-indacen-4-ylcarbamoyloxy)-3-(1,2,4-triazol-1-yl)propanoate2020850: Inhibition of NLRP3 inflammasome activation in LPS-activated human PBMC cells assessed as inhibition of ATP/nigericin induced IL-1beta secretion preincubated with LPS for 3 hrs followed by compound addition for 30 mins and further stimulated with ATP for 1 hr by ELISAic500.0006uM
2-[2-[[(8S,8aR)-1,2,3,5,6,7,8,8a-octahydroindolizin-8-yl]amino]-[1,3]oxazolo[4,5-b]pyridin-5-yl]-5-chloro-3-methylphenol2010083: Inhibition of NLRP3 in human THP-1 cells assessed as reduction in pyroptosis preincubated for 3 hrs followed by nigericin addition and measured after 1 hr by resazurin dye based microplate reader analysisic500.0006uM
methyl 3-[(3S)-3-[[5-(4-chloro-2-hydroxy-6-methylphenyl)-[1,3]oxazolo[4,5-b]pyridin-2-yl]amino]piperidin-1-yl]propanoate2010083: Inhibition of NLRP3 in human THP-1 cells assessed as reduction in pyroptosis preincubated for 3 hrs followed by nigericin addition and measured after 1 hr by resazurin dye based microplate reader analysisic500.0006uM
5-chloro-2-[2-[[(3S)-1-ethylpiperidin-3-yl]amino]-[1,3]oxazolo[4,5-b]pyridin-5-yl]-6-fluoro-3-methylphenol;2,2,2-trifluoroacetic acid2010083: Inhibition of NLRP3 in human THP-1 cells assessed as reduction in pyroptosis preincubated for 3 hrs followed by nigericin addition and measured after 1 hr by resazurin dye based microplate reader analysisic500.0006uM
2-[6-[[(3S)-1-ethylpiperidin-3-yl]amino]pyridazin-3-yl]-3-methyl-5-(trifluoromethyl)phenol2037724: Inhibition of NLRP3 in human THP-1 cells assessed as reduction in IL-1beta production measured after 3 hrsic500.0008uM
2-[4-[(3-hydroxy-3-methylcyclobutyl)amino]-5,7-dihydrofuro[3,4-d]pyridazin-1-yl]-5-(trifluoromethyl)phenol2037750: Inhibition of NLRP3 in human PBMC cells assessed as reduction in Il-1beta production preincubated for 0.5 hrs followed by LPS treatment for 3.5 hrs and further addition of ATP measured after 45 minsic500.0008uM
2-[4-[[(3R)-1-methylpiperidin-3-yl]amino]-5,7-dihydrofuro[3,4-d]pyridazin-1-yl]-5-(trifluoromethyl)phenol2037750: Inhibition of NLRP3 in human PBMC cells assessed as reduction in Il-1beta production preincubated for 0.5 hrs followed by LPS treatment for 3.5 hrs and further addition of ATP measured after 45 minsic500.0008uM
ethyl 2-(1,2,3,5,6,7-hexahydro-s-indacen-4-ylcarbamoyloxy)-3-(1,2,4-triazol-1-yl)propanoate2020850: Inhibition of NLRP3 inflammasome activation in LPS-activated human PBMC cells assessed as inhibition of ATP/nigericin induced IL-1beta secretion preincubated with LPS for 3 hrs followed by compound addition for 30 mins and further stimulated with ATP for 1 hr by ELISAic500.0010uM
2-[6-[[(3R)-1-ethylpiperidin-3-yl]amino]pyridazin-3-yl]-3-methyl-5-(trifluoromethyl)phenol2037757: Inhibition of NLRP3 in human THP-1 cells assessed as reduction in IL-1beta production preincubated for 1 hrs followed by nigericin addition measured after 3 hrs by HTRF assayic500.0010uM
2-[5-methyl-3-[[(3R)-1-methylpiperidin-3-yl]amino]-1,2,4-triazin-6-yl]-5-(trifluoromethyl)phenol1956445: Inhibition of NLRP3 inflammasome activation in PMA-differentiated human THP-1 cells assessed as reduction in IL-1beta secretion preincubated for 20 hrs followed by nigericin addition and measured after 3 hrs by HTRF assayic500.0010uM
5-chloro-2-[5-methyl-3-[[(3R)-1-methylpiperidin-3-yl]amino]-1,2,4-triazin-6-yl]phenol1956445: Inhibition of NLRP3 inflammasome activation in PMA-differentiated human THP-1 cells assessed as reduction in IL-1beta secretion preincubated for 20 hrs followed by nigericin addition and measured after 3 hrs by HTRF assayic500.0010uM
5-cyclopropyl-2-[5-methyl-3-[[(3R)-1-methylpiperidin-3-yl]amino]-1,2,4-triazin-6-yl]phenol1956445: Inhibition of NLRP3 inflammasome activation in PMA-differentiated human THP-1 cells assessed as reduction in IL-1beta secretion preincubated for 20 hrs followed by nigericin addition and measured after 3 hrs by HTRF assayic500.0010uM
3-fluoro-5-methyl-2-[5-methyl-3-[[(3R)-1-methylpiperidin-3-yl]amino]-1,2,4-triazin-6-yl]phenol1956445: Inhibition of NLRP3 inflammasome activation in PMA-differentiated human THP-1 cells assessed as reduction in IL-1beta secretion preincubated for 20 hrs followed by nigericin addition and measured after 3 hrs by HTRF assayic500.0010uM
3-fluoro-5-methoxy-2-[5-methyl-3-[[(3R)-1-methylpiperidin-3-yl]amino]-1,2,4-triazin-6-yl]phenol1956445: Inhibition of NLRP3 inflammasome activation in PMA-differentiated human THP-1 cells assessed as reduction in IL-1beta secretion preincubated for 20 hrs followed by nigericin addition and measured after 3 hrs by HTRF assayic500.0010uM
5-methoxy-2-[5-methyl-3-[[(3R)-1-methylpiperidin-3-yl]amino]-1,2,4-triazin-6-yl]phenol1956445: Inhibition of NLRP3 inflammasome activation in PMA-differentiated human THP-1 cells assessed as reduction in IL-1beta secretion preincubated for 20 hrs followed by nigericin addition and measured after 3 hrs by HTRF assayic500.0010uM
5-methyl-2-[6-[[(3R)-1-methylpiperidin-3-yl]amino]-4,5-diazatricyclo[6.2.2.02,7]dodeca-2(7),3,5,9-tetraen-3-yl]phenol2037755: Inhibition of NLRP3 in human THP-1 cells assessed as reduction in IL-1beta production preincubated for 1 hrs followed by nigericin addition measured after 30 mins by ELISA assayic500.0010uM
4-[6-[[(3R)-1-ethylpiperidin-3-yl]amino]pyridazin-3-yl]-3-hydroxy-5-methylbenzonitrile2011663: Inhibition of NLRP3 in human THP-1 cells assessed as reduction in pyroptosis preincubated with compound for 3 hrs followed by nigericin stimulation and measured after 1 hrs by resazurin dye based plate reader analysisic500.0011uM
4-[6-[(3aR,7aS)-6-methyl-3,3a,4,5,7,7a-hexahydro-2H-pyrrolo[2,3-c]pyridin-1-yl]pyridazin-3-yl]-3-hydroxy-5-methylbenzonitrile2011663: Inhibition of NLRP3 in human THP-1 cells assessed as reduction in pyroptosis preincubated with compound for 3 hrs followed by nigericin stimulation and measured after 1 hrs by resazurin dye based plate reader analysisic500.0012uM
3-hydroxy-4-[4-methyl-6-(6-methyl-3,3a,4,5,7,7a-hexahydro-2H-pyrrolo[2,3-c]pyridin-1-yl)pyridazin-3-yl]benzonitrile2011663: Inhibition of NLRP3 in human THP-1 cells assessed as reduction in pyroptosis preincubated with compound for 3 hrs followed by nigericin stimulation and measured after 1 hrs by resazurin dye based plate reader analysisic500.0018uM
4-[6-[(3aR,7aS)-6-methyl-3,3a,4,5,7,7a-hexahydro-2H-pyrrolo[2,3-c]pyridin-1-yl]-4-methylpyridazin-3-yl]-3-hydroxybenzonitrile2011663: Inhibition of NLRP3 in human THP-1 cells assessed as reduction in pyroptosis preincubated with compound for 3 hrs followed by nigericin stimulation and measured after 1 hrs by resazurin dye based plate reader analysisic500.0018uM
1-[amino-[(2S)-2-(hydroxymethyl)-2-methyl-3H-pyrazolo[5,1-b][1,3]oxazol-7-yl]-oxo-lambda6-sulfanylidene]-3-(1,2,3,5,6,7-hexahydro-s-indacen-4-yl)urea2037726: Inhibition of NLRP3 in human PBMC cells assessed as reduction in IL-1beta production measured after 3 hrsic500.0019uM
ethyl 3-(4-cyanopyrazol-1-yl)-2-(1,2,3,5,6,7-hexahydro-s-indacen-4-ylcarbamoyloxy)propanoate2020850: Inhibition of NLRP3 inflammasome activation in LPS-activated human PBMC cells assessed as inhibition of ATP/nigericin induced IL-1beta secretion preincubated with LPS for 3 hrs followed by compound addition for 30 mins and further stimulated with ATP for 1 hr by ELISAic500.0020uM
5-[3-[[(3R)-1-(2-hydroxyethyl)piperidin-3-yl]amino]-5-methyl-1,2,4-triazin-6-yl]-2,3-dihydro-1-benzofuran-4-ol2117480: Inhibition of NLRP3 in LPS/nigericin induced human THP-1 cells assessed as reduction in pyroptosis pretreated for 3 hrs in presence of LPS followed by nigericin addition and measured after 1 hr by resazurin dye based analysisic500.0023uM
5-[6-[[(3R)-1-(2-hydroxyethyl)piperidin-3-yl]amino]-4,5-diazatricyclo[6.2.2.02,7]dodeca-2(7),3,5-trien-3-yl]-1-benzofuran-4-ol2122638: Inhibition of NLRP3 inflammasome activation in LPS/nigericin stimulated human PBMC assessed as reduction in IL-1beta release pretreated with LPS for 3 hrs followed by compound addition for 40 mins prior to nigericin stimulation for 40 mins by ELISAic500.0029uM
2-[(2’S,4R)-2’-fluoro-6-iodo-1-oxospiro[3H-isoquinoline-4,1’-cyclopropane]-2-yl]-N-(3-hydroxy-3-methylcyclobutyl)acetamide2037720: Inhibition of NLRP3 in human THP-1 cells assessed as reduction in IL-1beta productionic500.0030uM
2-(4-bromo-2,6-dimethylphenyl)-6-(2-methylpropylamino)-5H-pyrazolo[3,4-d]pyrimidin-4-one2037720: Inhibition of NLRP3 in human THP-1 cells assessed as reduction in IL-1beta productionic500.0030uM
2-(4-bromo-2,6-dimethylphenyl)-6-(2,3-dihydro-1,4-oxazin-4-yl)-5H-pyrazolo[3,4-d]pyrimidin-4-one2037720: Inhibition of NLRP3 in human THP-1 cells assessed as reduction in IL-1beta productionic500.0030uM
3-hydroxy-4-[4-[(3-hydroxy-3-methylcyclobutyl)amino]-5,6,7,8-tetrahydrophthalazin-1-yl]benzonitrile2037755: Inhibition of NLRP3 in human THP-1 cells assessed as reduction in IL-1beta production preincubated for 1 hrs followed by nigericin addition measured after 30 mins by ELISA assayic500.0030uM
4-[6-[[(3R)-1-ethylpiperidin-3-yl]amino]-4-methylpyridazin-3-yl]-3-hydroxybenzonitrile;formic acid2011663: Inhibition of NLRP3 in human THP-1 cells assessed as reduction in pyroptosis preincubated with compound for 3 hrs followed by nigericin stimulation and measured after 1 hrs by resazurin dye based plate reader analysisic500.0031uM
1-[(E)-3-(dimethylamino)prop-1-enyl]sulfonyl-3-(1,2,3,5,6,7-hexahydro-s-indacen-4-yl)urea2037716: Inhibition of NLRP3 in human THP-1 cells assessed as reduction in IL-1beta production measured after 1 hrs in presence of ATPic500.0032uM
(2S)-2-[(4-aminophenyl)sulfonylamino]-N-(1,2,3,5,6,7-hexahydro-s-indacen-4-yl)-3-(4-hydroxyphenyl)propanamide2029913: Inhibition of NLRP3 inflammasome activation in LPS-treated human THP-1 cells assessed as inhibition of ATP-stimulated IL-1beta release at 1 uM incubated for 30 mins followed by ATP stimulation for 1 hr by ELISA methodic500.0033uM
4-[8-[(3R)-1-ethylpiperidin-3-yl]-6,7-dihydropyridazino[4,3-b][1,4]oxazin-3-yl]-3-hydroxy-5-methylbenzonitrile;formic acid2126500: Inhibition of NLRP3 dependent pyroptosis in human THP-1 cells preincubated with compound for 3 hrs followed by nigericin addition and measured after 1 hrs by resazurin dye based assayic500.0034uM
1-[(E)-3-(dimethylamino)prop-1-enyl]sulfonyl-3-(1,2,3,5-tetrahydro-s-indacen-4-yl)urea2037716: Inhibition of NLRP3 in human THP-1 cells assessed as reduction in IL-1beta production measured after 1 hrs in presence of ATPic500.0036uM
4-[(3R)-3-[[6-(4-hydroxy-2,3-dihydro-1-benzofuran-5-yl)-5-methyl-1,2,4-triazin-3-yl]amino]piperidin-1-yl]butanoic acid2117480: Inhibition of NLRP3 in LPS/nigericin induced human THP-1 cells assessed as reduction in pyroptosis pretreated for 3 hrs in presence of LPS followed by nigericin addition and measured after 1 hr by resazurin dye based analysisic500.0042uM
2-[4-methyl-6-[[(3R)-1-methylpiperidin-3-yl]amino]pyridazin-3-yl]naphthalen-1-ol2037733: Inhibition of NLRP3 in human THP-1 cells assessed as reduction in IL-1beta production preincubated for 1 hrs followed by ATP addition measured after 18 hrsic500.0043uM
1-[amino-[4-fluoro-1-[(2S)-2-hydroxypropyl]pyrazol-3-yl]-oxo-lambda6-sulfanylidene]-3-spiro[2-azatricyclo[7.3.0.03,7]dodeca-1(9),2,7-triene-4,1’-cyclopropane]-8-ylurea2037720: Inhibition of NLRP3 in human THP-1 cells assessed as reduction in IL-1beta productionic500.0047uM

CTD chemical–gene interactions

193 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Lipopolysaccharidesdecreases reaction, increases expression, affects cotreatment, increases reaction, increases activity (+4 more)21
Acetylcysteineaffects cotreatment, increases abundance, increases reaction, decreases ubiquitination, affects reaction (+2 more)19
Adenosine Triphosphatedecreases reaction, increases expression, increases activity, affects reaction, affects cotreatment12
N-(1,2,3,5,6,7-hexahydro-S-indacen-4-ylcarbamoyl)-4-(2-hydroxy-2-propanyl)-2-furansulfonamideaffects cotreatment, increases expression, decreases reaction, increases reaction, decreases activity (+2 more)11
Cadmium Chloridedecreases reaction, affects reaction, increases cleavage, increases abundance, increases expression (+3 more)10
Particulate Matterincreases abundance, increases expression, decreases expression, affects reaction, affects expression (+1 more)9
lipopolysaccharide, Escherichia coli O111 B4affects cotreatment, increases expression, affects expression, affects reaction, decreases reaction (+1 more)7
Cadmiumdecreases reaction, increases abundance, increases expression, affects reaction, increases secretion6
Glucoseaffects cotreatment, affects reaction, increases reaction, decreases reaction, increases expression6
sodium arsenitedecreases expression, decreases reaction, increases abundance, increases expression, increases reaction5
Silicon Dioxidedecreases reaction, increases expression, affects localization, affects cotreatment, increases activity5
3-methyladeninedecreases reaction, increases expression, affects cotreatment, increases reaction4
Air Pollutantsdecreases expression, increases abundance, increases expression, decreases reaction4
Nickelincreases abundance, increases expression, decreases reaction4
Asbestos, Crocidoliteincreases secretion, increases reaction, increases expression, decreases reaction, affects reaction (+1 more)4
3-(4-methylphenylsulfonyl)-2-propenenitriledecreases activity, decreases reaction, increases abundance, increases expression3
Resveratrolincreases abundance, affects cotreatment, increases expression, decreases reaction3
Acroleinaffects cotreatment, increases expression, increases reaction, decreases reaction, affects reaction (+1 more)3
Ethanolaffects cotreatment, decreases reaction, increases expression3
Arsenicaffects methylation, decreases expression, decreases reaction, increases abundance, increases expression3
Quercetinincreases secretion, decreases reaction, increases abundance, increases expression, increases reaction3
Uric Acidaffects reaction, increases cleavage, increases secretion, decreases reaction, increases expression (+2 more)3
tetrachlorobenzoquinonedecreases ubiquitination, increases expression, affects reaction, increases reaction, increases secretion (+2 more)2
ML385affects cotreatment, decreases reaction, increases expression2
ruscogenindecreases reaction, increases expression2
pyrrolidine dithiocarbamic acidincreases reaction, decreases reaction, increases expression2
puerarindecreases reaction, increases expression, increases reaction2
4-phenylbutyric aciddecreases reaction, increases expression2
SB 203580increases expression, increases abundance, decreases reaction2
pyrazolanthronedecreases reaction, increases expression, increases abundance2

ChEMBL screening assays

534 unique, capped per target: 527 binding, 6 functional, 1 admet

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL1737963FunctionalPUBCHEM_BIOASSAY: Dose Response confirmation of uHTS for the identification of inhibitors of NALP3 in yeast using a luminescent assay. (Class of assay: confirmatory) [Related pubchem assays (depositor defined):AID2825, AID2832]PubChem BioAssay data set
CHEMBL3390772BindingInhibition of recombinant NLRP3-ATPase (unknown origin) assessed as hydrolysis of ATP at 10 uMElectrophilic warhead-based design of compounds preventing NLRP3 inflammasome-dependent pyroptosis. — J Med Chem
CHEMBL4026427ADMETAgonist activity at NLRP3 in human THLP1-null cells assessed as induction of LPS-induced IL-1beta secretion by HEK-Blue reporter cell based assayNonpyrogenic Molecular Adjuvants Based on norAbu-Muramyldipeptide and norAbu-Glucosaminyl Muramyldipeptide: Synthesis, Molecular Mechanisms of Action, and Biological Activities in Vitro and in Vivo. — J Med Chem

Cellosaurus cell lines

6 cell lines: 4 cancer cell line, 2 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_A8ASTHP1-KO-NLRP3Cancer cell lineMale
CVCL_B9Z7Abcam THP-1 NLRP3 KOCancer cell lineMale
CVCL_E1D5Ubigene THP-1 NLRP3 KOCancer cell lineMale
CVCL_T776CiRA086Ai-m1Induced pluripotent stem cellMale
CVCL_T777CiRA188Ai-M1Induced pluripotent stem cellMale
CVCL_X600THP1-defNLRP3Cancer cell lineMale

Clinical trials (associated diseases)

275 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT02422056PHASE4COMPLETEDAcid Tranexamic Effectiveness in Reducing the Intraoperative Bleeding in Palatoplasty
NCT02915042PHASE4WITHDRAWNDexmedetomidine vs Placebo for Pediatric Cleft Palate Repair
NCT02953145PHASE4WITHDRAWNThe Use of Fibrin Sealant to Reduce Post Operative Pain in Cleft Palate Surgery
NCT03632044PHASE4ACTIVE_NOT_RECRUITINGEvaluation of Trigeminal Nerve Blockade
NCT06962306PHASE4RECRUITINGOptimizing Perioperative Analgesia to Lower Pain Following Cleft Palate Surgery
NCT02399566PHASE4UNKNOWNClinical Trial of Erlotinib and Pemetrexed for Maintenance Treatment in Lung Adenocarcinoma
NCT02804646PHASE4UNKNOWNEndostar Durative Transfusion Combined With Chemotherapy in the Treatment of Advanced Lung Adenocarcinoma
NCT00685373PHASE3COMPLETEDEfficacy and Safety of ACZ885 in Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease
NCT00770601PHASE3TERMINATEDCanakinumab to Treat Neonatal-Onset Multisystem Inflammatory Disease
NCT00991146PHASE3COMPLETEDEfficacy and Safety Study of Canakinumab Administered for 6 Months (24 Weeks) in Japanese Patients With Cryopyrin-associated Periodic Syndromes Followed by an Extension Phase
NCT01302860PHASE3COMPLETEDEfficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease
NCT01576367PHASE3COMPLETEDEfficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease
NCT01105507PHASE3COMPLETEDThe Safety and Efficacy of Canakinumab in Patients Aged 4 Years or Older Diagnosed With Cryopyrin-associated Periodic Syndromes (CAPS) in Canada
NCT00288704PHASE3COMPLETEDRilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS)
NCT00465985PHASE3COMPLETEDEfficacy, Safety, and Tolerability of ACZ885 in Patients With Muckle-Wells Syndrome
NCT00098319PHASE3COMPLETEDOral Cleft Prevention Trial in Brazil
NCT00397917PHASE3COMPLETEDOral Cleft Prevention Program
NCT04928352PHASE3RECRUITINGNebulized Bupivacaine Analgesia for Cleft Palate Repair
NCT04928391PHASE3COMPLETEDA Single Bolus of Dexmedetomidine Versus Normal Saline in Postoperative Agitation
NCT00002852PHASE3COMPLETEDSurgery With or Without Chemotherapy in Treating Patients With Stage I Non-small Cell Lung Cancer
NCT00005838PHASE3COMPLETEDCombination Chemotherapy Plus Radiation Therapy With or Without AE-941 in Treating Patients With Stage III Non-small Cell Lung Cancer That Cannot Be Removed By Surgery
NCT00020709PHASE3COMPLETEDCombination Chemotherapy and Radiation Therapy With or Without Gefitinib in Treating Patients With Stage III Non-Small Cell Lung Cancer That Cannot Be Removed By Surgery
NCT00049543PHASE3COMPLETEDGefitinib in Treating Patients With Stage IB, II, or IIIA Non-small Cell Lung Cancer That Was Completely Removed by Surgery
NCT00946712PHASE3TERMINATEDS0819: Carboplatin and Paclitaxel With or Without Bevacizumab and/or Cetuximab in Treating Patients With Stage IV or Recurrent Non-Small Cell Lung Cancer
NCT01798485PHASE3TERMINATEDA Phase 3 Study of Ganetespib in Combination With Docetaxel Versus Docetaxel Alone in Patients With Advanced NSCLC
NCT02011997PHASE3UNKNOWNComparison of cVATS Segmentectomy Versus Lobectomy for Lung Adenocarcinoma in Situ and With Microinvasion
NCT03391869PHASE3ACTIVE_NOT_RECRUITINGNivolumab and Ipilimumab With or Without Local Consolidation Therapy in Treating Patients With Stage IV Non-Small Cell Lung Cancer
NCT03676192PHASE3COMPLETEDTo Compare Efficacy and Safety of CT-P16 and European Union-Approved Avastin as First-Line Treatment for Metastatic or Recurrent Non-Squamous Non-Small Cell Lung Cancer
NCT04339218PHASE3RECRUITINGCryoablation in Combination (or Not) With Pembrolizumab and Pemetrexed-carboplatin in 1st-line Treatment for Patients With Metastatic Lung Adenocarcinoma
NCT05204758PHASE3COMPLETEDProphylactic TCM for Mitigation of EGFR-TKI Related Dermatological Adverse Effect
NCT05717803PHASE3RECRUITINGSegmentectomy for Ground Glass-dominant Invasive Lung Cancer (ECTOP-1012)
NCT05943795PHASE3ACTIVE_NOT_RECRUITINGA Clinical Study of SI-B001 Combined With Docetaxel in the Treatment of Non-small Cell Lung Adenocarcinoma and Lung Squamous Cell Carcinoma
NCT06031181PHASE3RECRUITINGSublobar Resection for Adenocarcinoma in Situ/Minimally Invasive Adenocarcinoma Diagnosed by Intraoperative Frozen Section (ECTOP-1019)
NCT06031246PHASE3RECRUITINGSelective Lymph Node Dissection for cT1N0M0 Invasive NSCLC With CTR>0.5 Located in the Apical Segment (ECTOP-1018)
NCT06634966PHASE3RECRUITINGSegmentectomy for Solid-dominant Lung Cancer
NCT07169903PHASE3NOT_YET_RECRUITINGSegmentectomy vs Lobectomy for 2 - 3cm IASLC Grade 1-2 Lung Adenocarcinoma: A Multi-center RCT
NCT07481786PHASE3RECRUITINGBevacizumab Plus FSRT Versus Hippocampus-Avoidant WBRT in Lung Adenocarcinoma With Extensive Brain Metastases
NCT03923140PHASE2UNKNOWNA Clinical Study of Tranilast in the Treatment of Cryopyrin-Associated Periodic Syndrome (CAPS)
NCT04524858PHASE2TERMINATEDStudy of ATI-450 in Patients With Cryopyrin-Associated Periodic Syndrome (CAPS)
NCT05186051PHASE2COMPLETEDA Clinical Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of ZYIL1 in Subjects With Cryopyrin Associated Periodic Syndromes (CAPS)