IL1RL2
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Also known as IL1R-rp2IL1RRP2IL-36R
Summary
IL1RL2 (interleukin 1 receptor like 2, HGNC:5999) is a protein-coding gene on chromosome 2q12.1, encoding Interleukin-1 receptor-like 2 (Q9HB29). Receptor for interleukin-36 (IL36A, IL36B and IL36G).
The protein encoded by this gene is a member of the interleukin 1 receptor family. An experiment with transient gene expression demonstrated that this receptor was incapable of binding to interleukin 1 alpha and interleukin 1 beta with high affinity. This gene and four other interleukin 1 receptor family genes, including interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2), interleukin 1 receptor-like 1 (IL1RL1), and interleukin 18 receptor 1 (IL18R1), form a cytokine receptor gene cluster in a region mapped to chromosome 2q12.
Source: NCBI Gene 8808 — RefSeq curated summary.
At a glance
- GWAS associations: 37
- Clinical variants (ClinVar): 107 total
- Druggable target: yes
- MANE Select transcript:
NM_003854
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:5999 |
| Approved symbol | IL1RL2 |
| Name | interleukin 1 receptor like 2 |
| Location | 2q12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | IL1R-rp2, IL1RRP2, IL-36R |
| Ensembl gene | ENSG00000115598 |
| Ensembl biotype | protein_coding |
| OMIM | 604512 |
| Entrez | 8808 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 8 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000264257, ENST00000421464, ENST00000441515, ENST00000481806, ENST00000908896, ENST00000908897, ENST00000908898, ENST00000908899, ENST00000908900
RefSeq mRNA: 6 — MANE Select: NM_003854
NM_001351446, NM_001351447, NM_001351448, NM_001351449, NM_001351450, NM_003854
CCDS: CCDS2056, CCDS86867
Canonical transcript exons
ENST00000264257 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000772430 | 102191925 | 102192120 |
| ENSE00000804352 | 102189076 | 102189310 |
| ENSE00001359836 | 102187023 | 102187086 |
| ENSE00001868228 | 102239192 | 102240002 |
| ENSE00003476389 | 102219881 | 102220017 |
| ENSE00003479516 | 102187856 | 102187925 |
| ENSE00003494047 | 102232963 | 102233124 |
| ENSE00003522902 | 102234897 | 102235277 |
| ENSE00003575069 | 102225898 | 102226041 |
| ENSE00003624034 | 102218953 | 102219082 |
| ENSE00003636847 | 102201556 | 102201715 |
| ENSE00003678987 | 102212100 | 102212174 |
Expression profiles
Bgee: expression breadth ubiquitous, 153 present calls, max score 88.20.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1433 / max 82.0876, expressed in 40 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 21699 | 0.1433 | 40 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.20 | gold quality |
| skin of abdomen | UBERON:0001416 | 80.43 | gold quality |
| skin of leg | UBERON:0001511 | 79.67 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 79.32 | gold quality |
| esophagus mucosa | UBERON:0002469 | 77.11 | gold quality |
| zone of skin | UBERON:0000014 | 76.86 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 71.44 | gold quality |
| right lobe of liver | UBERON:0001114 | 71.15 | gold quality |
| cartilage tissue | UBERON:0002418 | 70.77 | silver quality |
| left lobe of thyroid gland | UBERON:0001120 | 70.62 | gold quality |
| thyroid gland | UBERON:0002046 | 69.61 | gold quality |
| right uterine tube | UBERON:0001302 | 69.39 | gold quality |
| minor salivary gland | UBERON:0001830 | 68.58 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 68.46 | gold quality |
| gall bladder | UBERON:0002110 | 68.20 | gold quality |
| left adrenal gland | UBERON:0001234 | 68.00 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 67.77 | gold quality |
| amniotic fluid | UBERON:0000173 | 67.38 | silver quality |
| right adrenal gland | UBERON:0001233 | 67.09 | gold quality |
| islet of Langerhans | UBERON:0000006 | 67.05 | gold quality |
| buccal mucosa cell | CL:0002336 | 66.93 | gold quality |
| vagina | UBERON:0000996 | 66.75 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 66.68 | gold quality |
| mouth mucosa | UBERON:0003729 | 66.42 | gold quality |
| adrenal cortex | UBERON:0001235 | 65.64 | gold quality |
| metanephros cortex | UBERON:0010533 | 64.97 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 64.81 | gold quality |
| prefrontal cortex | UBERON:0000451 | 64.33 | gold quality |
| rectum | UBERON:0001052 | 64.30 | gold quality |
| esophagus | UBERON:0001043 | 64.25 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.56 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
9 targeting IL1RL2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-6512-3P | 99.65 | 66.07 | 1468 |
| HSA-MIR-6720-5P | 99.65 | 66.22 | 1459 |
| HSA-MIR-6882-5P | 99.35 | 71.13 | 1206 |
| HSA-MIR-8065 | 99.19 | 70.38 | 1289 |
| HSA-MIR-4784 | 99.15 | 67.41 | 1733 |
| HSA-MIR-922 | 99.02 | 67.23 | 1838 |
| HSA-MIR-3150B-3P | 98.81 | 67.21 | 1728 |
| HSA-MIR-4689 | 96.97 | 65.79 | 1209 |
| HSA-MIR-6858-5P | 96.05 | 64.59 | 1020 |
Literature-anchored findings (GeneRIF, showing 16)
- IL-1alpha and IL-1beta gene polymorphisms do not act as a strong susceptibility factor for MTLE-HS in individuals of Turkish ancestry (PMID:16546408)
- Expression of IL-1Rrp2 by sone dendritic cell subsets may have an important function in the human immune response in vivo via its role in differentiation of inflammatory Th1 lymphocytes. (PMID:22144259)
- These data provide evidence that IL-38 binds to the IL-36R, as does IL-36Ra.[IL-38, IL-36R] (PMID:22315422)
- IL36A-IL36R axis is modulated in patients with primary Sjogren’s syndrome. (PMID:25902739)
- The ubiquitin-binding Tollip protein contributed to IL-36R signaling and increased the accumulation of both subunits of the IL-36R. (PMID:26269592)
- The data identify a novel role for IL-36 signaling in colonic inflammation and indicate that the IL-36R pathway may represent a novel target for therapeutic intervention. (PMID:26813344)
- All human blood lymphocytes express IL-36R. (PMID:27269181)
- single nucleotide polymorphism A471T in the Toll-interleukin 1 receptor domain (TIR) of the IL-1Rrp2 that is present in approximately 2% of the human population, down-regulated IL-36R signaling by a decrease of interaction with IL-1RAcP. (PMID:27307043)
- Endothelial cells, including dermal microvascular cells, express a functionally active IL-36 receptor. (PMID:27673278)
- The IL36 receptor (IL1RL2) is an important mediator molecule in the inflammatory response. (PMID:27853811)
- Serum IL-36 cytokines levels in type 2 diabetes mellitus patients and their association with obesity, insulin resistance, and inflammation. (PMID:33034926)
- Interleukin-1 Receptor-Like 2: One Receptor, Three Agonists, and Many Implications. (PMID:35171706)
- Transcriptomic and functional analyses reveal a tumour-promoting role for the IL-36 receptor in colon cancer and crosstalk between IL-36 signalling and the IL-17/ IL-23 axis. (PMID:36482185)
- Myeloid cell-derived proteases produce a proinflammatory form of IL-37 that signals via IL-36 receptor engagement. (PMID:36525507)
- In Silico and In Vitro Analysis of IL36RN Alterations Reveals Critical Residues for the Function of the Interleukin-36 Receptor Complex. (PMID:37414245)
- Emerging Role of the IL-36/IL-36R Axis in Multiple Inflammatory Skin Diseases. (PMID:38189700)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Il1rl2 | ENSMUSG00000070942 |
| rattus_norvegicus | Il1rl2 | ENSRNOG00000014683 |
Paralogs (10): LAG3 (ENSG00000089692), IL1R2 (ENSG00000115590), IL1R1 (ENSG00000115594), IL1RL1 (ENSG00000115602), IL18R1 (ENSG00000115604), IL18RAP (ENSG00000115607), IL1RAPL1 (ENSG00000169306), SIGIRR (ENSG00000185187), IL1RAPL2 (ENSG00000189108), IL1RAP (ENSG00000196083)
Protein
Protein identifiers
Interleukin-1 receptor-like 2 — Q9HB29 (reviewed: Q9HB29)
Alternative names: IL-36 receptor, Interleukin-1 receptor-related protein 2
All UniProt accessions (2): Q9HB29, C9K0I8
UniProt curated annotations — full annotation on UniProt →
Function. Receptor for interleukin-36 (IL36A, IL36B and IL36G). After binding to interleukin-36 associates with the coreceptor IL1RAP to form the interleukin-36 receptor complex which mediates interleukin-36-dependent activation of NF-kappa-B, MAPK and other pathways. The IL-36 signaling system is thought to be present in epithelial barriers and to take part in local inflammatory response; it is similar to the IL-1 system. Seems to be involved in skin inflammatory response by induction of the IL-23/IL-17/IL-22 pathway.
Subunit / interactions. Interacts with IL1RAP; the association is enhanced by IL36B indicative for an functional signaling complex and inhibited by IL36RN.
Subcellular location. Membrane.
Tissue specificity. Expressed in synovial fibroblasts and articular chondrocytes. Expressed in keratinocytes and monocyte-derived dendritic cells. Expressed in monocytes and myeloid dendritic cells; at protein level.
Domain organisation. The TIR domain mediates NAD(+) hydrolase (NADase) activity. Self-association of TIR domains is required for NADase activity.
Similarity. Belongs to the interleukin-1 receptor family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9HB29-1 | 1 | yes |
| Q9HB29-2 | 2 |
RefSeq proteins (6): NP_001338375, NP_001338376, NP_001338377, NP_001338378, NP_001338379, NP_003845* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000157 | TIR_dom | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR004074 | IL-1_rcpt_I/II-typ | Family |
| IPR004076 | IL-1_rcpt_I-typ | Family |
| IPR007110 | Ig-like_dom | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR015621 | IL-1_rcpt_fam | Family |
| IPR035897 | Toll_tir_struct_dom_sf | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
Pfam: PF01582, PF13895
Catalyzed reactions (Rhea), 1 shown:
- NAD(+) + H2O = ADP-D-ribose + nicotinamide + H(+) (RHEA:16301)
UniProt features (51 total): strand 16, glycosylation site 9, domain 4, disulfide bond 3, splice variant 3, sequence variant 3, sequence conflict 3, helix 3, topological domain 2, signal peptide 1, chain 1, transmembrane region 1, turn 1, active site 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9ETH | X-RAY DIFFRACTION | 2.3 |
| 6U6U | X-RAY DIFFRACTION | 2.31 |
| 9ETI | X-RAY DIFFRACTION | 2.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HB29-F1 | 77.84 | 0.24 |
Antibody-complex structures (SAbDab): 1 — 6U6U
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 467
Disulfide bonds (3): 42–95, 146–195, 249–316
Glycosylation sites (9): 41, 59, 109, 127, 184, 234, 250, 266, 299
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-9007892 | Interleukin-38 signaling |
| R-HSA-9014826 | Interleukin-36 pathway |
MSigDB gene sets: 156 (showing top):
GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, chr2q12, GOCC_CELL_SURFACE, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_CELL_CELL_ADHESION, GOBP_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION, GOBP_REGULATION_OF_HEMOPOIESIS, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, GOBP_PRODUCTION_OF_MOLECULAR_MEDIATOR_INVOLVED_IN_INFLAMMATORY_RESPONSE
GO Biological Process (11): inflammatory response (GO:0006954), cellular defense response (GO:0006968), signal transduction (GO:0007165), cell surface receptor signaling pathway (GO:0007166), positive regulation of interleukin-6 production (GO:0032755), innate immune response (GO:0045087), positive regulation of T cell differentiation (GO:0045582), regulation of inflammatory response (GO:0050727), immune system process (GO:0002376), cytokine-mediated signaling pathway (GO:0019221), interleukin-1-mediated signaling pathway (GO:0070498)
GO Molecular Function (5): interleukin-1 receptor activity (GO:0004908), interleukin-1, type I, activating receptor activity (GO:0004909), NAD+ nucleosidase activity, cyclic ADP-ribose generating (GO:0061809), hydrolase activity (GO:0016787), signaling receptor activity (GO:0038023)
GO Cellular Component (3): plasma membrane (GO:0005886), cell surface (GO:0009986), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Interleukin-1 family signaling | 2 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| defense response | 2 |
| cellular anatomical structure | 2 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| signal transduction | 1 |
| positive regulation of cytokine production | 1 |
| interleukin-6 production | 1 |
| regulation of interleukin-6 production | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| T cell differentiation | 1 |
| regulation of T cell differentiation | 1 |
| positive regulation of lymphocyte differentiation | 1 |
| positive regulation of T cell activation | 1 |
| inflammatory response | 1 |
| regulation of defense response | 1 |
| regulation of response to external stimulus | 1 |
| biological_process | 1 |
| cell surface receptor signaling pathway | 1 |
| cellular response to cytokine stimulus | 1 |
| cytokine-mediated signaling pathway | 1 |
| cellular response to interleukin-1 | 1 |
| cytokine receptor activity | 1 |
| interleukin-1 binding | 1 |
| interleukin-1 receptor activity | 1 |
| interleukin-1-mediated signaling pathway | 1 |
| hydrolase activity, hydrolyzing N-glycosyl compounds | 1 |
| catalytic activity | 1 |
| molecular transducer activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
748 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| IL1RL2 | IL36RN | Q9UBH0 | 993 |
| IL1RL2 | IL1F10 | Q8WWZ1 | 992 |
| IL1RL2 | IL1RAP | Q9NPH3 | 987 |
| IL1RL2 | IL36A | Q9UHA7 | 966 |
| IL1RL2 | IL1R1 | P14778 | 963 |
| IL1RL2 | IL36B | Q9NZH7 | 912 |
| IL1RL2 | NDUFAB1 | O14561 | 885 |
| IL1RL2 | IL1A | P01583 | 855 |
| IL1RL2 | IL1B | P01584 | 818 |
| IL1RL2 | IL36G | Q9NZH8 | 805 |
| IL1RL2 | IL33 | O95760 | 721 |
| IL1RL2 | IL18R1 | Q13478 | 671 |
| IL1RL2 | IL37 | Q9NZH6 | 645 |
| IL1RL2 | CARD14 | Q9BXL6 | 621 |
| IL1RL2 | MYD88 | P78397 | 609 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IL1RL2 | MYO1F | psi-mi:“MI:0914”(association) | 0.350 |
| IL1RL2 | DNAJC6 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (19): IL1RL2 (Affinity Capture-Western), POTEI (Affinity Capture-MS), DNAJC6 (Affinity Capture-MS), MYO1F (Affinity Capture-MS), MICAL1 (Affinity Capture-MS), ACTB (Affinity Capture-MS), GET4 (Affinity Capture-MS), IL1RL2 (Biochemical Activity), IL1RL2 (Biochemical Activity), IL1RL2 (Biochemical Activity), IL1RL2 (Co-localization), IL1RL2 (Affinity Capture-Western), IL1RL2 (Synthetic Lethality), GET4 (Affinity Capture-MS), DNAJC6 (Affinity Capture-MS)
ESM2 similar proteins: A3KPA0, A5A6L6, A5D7C3, O60487, O70255, O88792, P01865, P01903, P01904, P01910, P04224, P04228, P14434, P14439, P14778, P15980, P22646, P23150, P53788, P57087, P59822, P97952, Q00954, Q02955, Q07699, Q17QN4, Q1WIM2, Q28740, Q2WGK2, Q30631, Q3TEW6, Q3V3F6, Q4PPC4, Q5EAB0, Q5R804, Q61730, Q62929, Q63621, Q66KX2, Q68FQ2
Diamond homologs: P13504, P14778, P27930, P43303, Q02955, Q29612, Q62929, Q9ERS7, Q9HB29, P27931, Q9NP60, B2LT62, B2LT65, Q0GC71, Q4V892, Q63621, Q6IA17, Q9JLZ8, Q9V477, A2TF48, B3Y678, B3Y679, B3Y680, B3Y681, B3Y682, B3Y683, B6CJX2, C8BKC7, P22366, P59822, Q599T9, Q61730, Q6Y1S1, Q99836, Q9NPH3
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| IL1F10 | “down-regulates activity” | IL1RL2 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
107 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 81 |
| Likely benign | 9 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2087 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:102201675:G:T | donor_gain | 1.0000 |
| 2:102201716:G:GG | donor_gain | 1.0000 |
| 2:102219078:GTGGA:G | donor_gain | 1.0000 |
| 2:102219080:GGA:G | donor_gain | 1.0000 |
| 2:102219081:GAG:G | donor_gain | 1.0000 |
| 2:102219083:G:GG | donor_gain | 1.0000 |
| 2:102219877:ATAG:A | acceptor_loss | 1.0000 |
| 2:102219878:TA:T | acceptor_loss | 1.0000 |
| 2:102219879:A:AG | acceptor_gain | 1.0000 |
| 2:102219879:AG:A | acceptor_loss | 1.0000 |
| 2:102219880:G:GA | acceptor_gain | 1.0000 |
| 2:102219880:GA:G | acceptor_gain | 1.0000 |
| 2:102219880:GAACC:G | acceptor_gain | 1.0000 |
| 2:102225886:T:A | acceptor_gain | 1.0000 |
| 2:102225896:A:AG | acceptor_gain | 1.0000 |
| 2:102225897:G:GG | acceptor_gain | 1.0000 |
| 2:102226037:AGTAG:A | donor_loss | 1.0000 |
| 2:102226040:AGG:A | donor_loss | 1.0000 |
| 2:102226041:GGTA:G | donor_loss | 1.0000 |
| 2:102226043:T:G | donor_loss | 1.0000 |
| 2:102233080:GATA:G | donor_gain | 1.0000 |
| 2:102234893:CCAGC:C | acceptor_loss | 1.0000 |
| 2:102234894:CA:C | acceptor_loss | 1.0000 |
| 2:102234895:A:AG | acceptor_gain | 1.0000 |
| 2:102234895:AGCC:A | acceptor_gain | 1.0000 |
| 2:102234896:G:GG | acceptor_gain | 1.0000 |
| 2:102234896:GC:G | acceptor_gain | 1.0000 |
| 2:102234896:GCC:G | acceptor_gain | 1.0000 |
| 2:102234896:GCCG:G | acceptor_gain | 1.0000 |
| 2:102234896:GCCGT:G | acceptor_gain | 1.0000 |
AlphaMissense
3773 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:102219017:G:C | W263C | 0.997 |
| 2:102219017:G:T | W263C | 0.997 |
| 2:102219015:T:A | W263R | 0.993 |
| 2:102219015:T:C | W263R | 0.993 |
| 2:102219972:T:A | C316S | 0.993 |
| 2:102219973:G:C | C316S | 0.993 |
| 2:102192112:T:A | W161R | 0.992 |
| 2:102192112:T:C | W161R | 0.992 |
| 2:102218973:T:A | C249S | 0.992 |
| 2:102218974:G:C | C249S | 0.992 |
| 2:102192114:G:C | W161C | 0.990 |
| 2:102192114:G:T | W161C | 0.990 |
| 2:102232987:T:A | V387D | 0.986 |
| 2:102218974:G:A | C249Y | 0.985 |
| 2:102219016:G:C | W263S | 0.985 |
| 2:102219972:T:C | C316R | 0.985 |
| 2:102233089:T:C | L421S | 0.985 |
| 2:102189183:T:A | W56R | 0.984 |
| 2:102189183:T:C | W56R | 0.984 |
| 2:102219967:T:C | F314S | 0.984 |
| 2:102201649:T:A | C195S | 0.983 |
| 2:102201650:G:C | C195S | 0.983 |
| 2:102218973:T:C | C249R | 0.983 |
| 2:102189185:G:C | W56C | 0.982 |
| 2:102189185:G:T | W56C | 0.982 |
| 2:102232980:G:C | A385P | 0.982 |
| 2:102233091:T:C | F422L | 0.982 |
| 2:102233093:T:A | F422L | 0.982 |
| 2:102233093:T:G | F422L | 0.982 |
| 2:102235181:T:C | F528L | 0.982 |
dbSNP variants (sampled 300 via entrez): RS1000126695 (2:102210152 A>G,T), RS1000205348 (2:102218268 G>A), RS1000208957 (2:102185282 C>G,T), RS1000285214 (2:102212036 C>A,T), RS1000432734 (2:102228106 T>C), RS1000471999 (2:102206013 C>T), RS1000484277 (2:102216816 G>A), RS1000538724 (2:102188108 C>A,T), RS1000602362 (2:102194315 A>G), RS1000614484 (2:102200083 G>A), RS1000617356 (2:102233687 A>G), RS1000733529 (2:102233267 A>T), RS1000749109 (2:102194245 C>G), RS1000765036 (2:102233398 C>A), RS1000833494 (2:102187994 GC>G,GCC)
Disease associations
OMIM: gene MIM:604512 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
37 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000612_30 | Celiac disease | 1.000000e-15 |
| GCST001725_46 | Inflammatory bowel disease | 3.000000e-20 |
| GCST002083_12 | Self-reported allergy | 2.000000e-16 |
| GCST002137_6 | Waist circumference | 5.000000e-06 |
| GCST002166_3 | Serum protein levels (sST2) | 4.000000e-16 |
| GCST002166_4 | Serum protein levels (sST2) | 2.000000e-11 |
| GCST003129_29 | Primary biliary cholangitis | 5.000000e-09 |
| GCST003987_5 | Asthma | 5.000000e-31 |
| GCST004131_93 | Inflammatory bowel disease | 5.000000e-11 |
| GCST004132_63 | Crohn’s disease | 6.000000e-11 |
| GCST005038_122 | Allergic disease (asthma, hay fever or eczema) | 4.000000e-26 |
| GCST005212_18 | Asthma | 4.000000e-21 |
| GCST005213_1 | Asthma (childhood onset) | 5.000000e-13 |
| GCST006088_43 | Familial squamous cell lung carcinoma | 1.000000e-06 |
| GCST006585_2809 | Blood protein levels | 9.000000e-32 |
| GCST006862_21 | Asthma | 9.000000e-20 |
| GCST007563_2 | Allergic disease (asthma, hay fever or eczema) | 4.000000e-24 |
| GCST007564_34 | Asthma or allergic disease (pleiotropy) | 2.000000e-27 |
| GCST007797_10 | Asthma onset (childhood vs adult) | 7.000000e-27 |
| GCST007797_14 | Asthma onset (childhood vs adult) | 1.000000e-12 |
| GCST007797_21 | Asthma onset (childhood vs adult) | 3.000000e-08 |
| GCST007798_17 | Asthma | 1.000000e-19 |
| GCST007798_18 | Asthma | 2.000000e-28 |
| GCST007798_19 | Asthma | 5.000000e-71 |
| GCST007798_20 | Asthma | 2.000000e-56 |
| GCST007799_39 | Asthma (adult onset) | 1.000000e-32 |
| GCST007799_40 | Asthma (adult onset) | 1.000000e-31 |
| GCST007800_19 | Asthma (childhood onset) | 5.000000e-37 |
| GCST007800_55 | Asthma (childhood onset) | 9.000000e-59 |
| GCST007993_13 | Asthma (adult onset) | 4.000000e-12 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006953 | family history of lung cancer |
| EFO:0004847 | age at onset |
| EFO:1002011 | adult onset asthma |
| EFO:0009958 | response to bisphosphonate |
| EFO:0009960 | atypical femoral fracture |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4665591 (PROTEIN COMPLEX)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: catalytic receptor — Immunoglobulin-like family of IL-1 receptors
Most potent curated ligand interactions (2 total), top 2:
| Ligand | Action | Affinity | Parameter |
|---|---|---|---|
| MAB92 | Antagonist | 10.62 | pKd |
| spesolimab | Binding | 10.52 | pKd |
CTD chemical–gene interactions
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases methylation, increases expression | 2 |
| Cadmium | decreases expression, increases abundance, affects cotreatment | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| titanium dioxide | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| zinc sulfide | affects cotreatment, decreases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Selenium | affects cotreatment, decreases expression | 1 |
| Silver | decreases expression | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
| Fullerenes | affects expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E6U9 | Genomeditech HEK-293 H_IL36 Reporter | Transformed cell line | Female |
| CVCL_E8EH | HEK-Blue IL-36 | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Targeted by drugs: Spesolimab