LRRC40
gene geneOn this page
Also known as FLJ20331
Summary
LRRC40 (leucine rich repeat containing 40, HGNC:26004) is a protein-coding gene on chromosome 1p31.1, encoding Leucine-rich repeat-containing protein 40 (Q9H9A6).
Predicted to be involved in intracellular signal transduction. Located in membrane.
Source: NCBI Gene 55631 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 89 total
- Phenotypes (HPO): 1
- Druggable target: yes
- MANE Select transcript:
NM_017768
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26004 |
| Approved symbol | LRRC40 |
| Name | leucine rich repeat containing 40 |
| Location | 1p31.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20331 |
| Ensembl gene | ENSG00000066557 |
| Ensembl biotype | protein_coding |
| Entrez | 55631 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 10 protein_coding
ENST00000370952, ENST00000861873, ENST00000861874, ENST00000861875, ENST00000920865, ENST00000920866, ENST00000920867, ENST00000920868, ENST00000963788, ENST00000963789
RefSeq mRNA: 1 — MANE Select: NM_017768
NM_017768
CCDS: CCDS646
Canonical transcript exons
ENST00000370952 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000473737 | 70175810 | 70175982 |
| ENSE00000774596 | 70148487 | 70148672 |
| ENSE00000774597 | 70151128 | 70151205 |
| ENSE00000774605 | 70152433 | 70152543 |
| ENSE00000774610 | 70155689 | 70155796 |
| ENSE00000774614 | 70159330 | 70159438 |
| ENSE00000774621 | 70173465 | 70173510 |
| ENSE00000774633 | 70173622 | 70173709 |
| ENSE00000798451 | 70178851 | 70178993 |
| ENSE00000798452 | 70184785 | 70184914 |
| ENSE00000903855 | 70181086 | 70181209 |
| ENSE00000956617 | 70189092 | 70189273 |
| ENSE00000956618 | 70187265 | 70187338 |
| ENSE00001453981 | 70144805 | 70145905 |
| ENSE00001453984 | 70205390 | 70205579 |
Expression profiles
Bgee: expression breadth ubiquitous, 283 present calls, max score 95.45.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.8654 / max 270.0191, expressed in 1804 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 12799 | 23.7850 | 1804 |
| 12798 | 0.0804 | 26 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| jejunal mucosa | UBERON:0000399 | 95.45 | gold quality |
| oocyte | CL:0000023 | 94.24 | gold quality |
| secondary oocyte | CL:0000655 | 94.18 | gold quality |
| endothelial cell | CL:0000115 | 93.61 | gold quality |
| jejunum | UBERON:0002115 | 93.18 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 92.79 | gold quality |
| cortical plate | UBERON:0005343 | 91.87 | gold quality |
| embryo | UBERON:0000922 | 91.37 | gold quality |
| oral cavity | UBERON:0000167 | 91.19 | gold quality |
| synovial joint | UBERON:0002217 | 90.72 | gold quality |
| cerebellar vermis | UBERON:0004720 | 90.62 | gold quality |
| skin of hip | UBERON:0001554 | 90.59 | gold quality |
| superficial temporal artery | UBERON:0001614 | 90.59 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.55 | gold quality |
| hair follicle | UBERON:0002073 | 90.39 | gold quality |
| upper leg skin | UBERON:0004262 | 90.15 | gold quality |
| pons | UBERON:0000988 | 89.80 | gold quality |
| ganglionic eminence | UBERON:0004023 | 89.79 | gold quality |
| heart right ventricle | UBERON:0002080 | 89.70 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 89.69 | gold quality |
| parietal pleura | UBERON:0002400 | 89.53 | gold quality |
| cauda epididymis | UBERON:0004360 | 89.52 | gold quality |
| biceps brachii | UBERON:0001507 | 89.36 | gold quality |
| ventricular zone | UBERON:0003053 | 89.11 | gold quality |
| calcaneal tendon | UBERON:0003701 | 89.06 | gold quality |
| mammary duct | UBERON:0001765 | 89.00 | gold quality |
| penis | UBERON:0000989 | 88.89 | gold quality |
| duodenum | UBERON:0002114 | 88.88 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 88.78 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 88.74 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.12 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
75 targeting LRRC40, 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-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
Literature-anchored findings (GeneRIF, showing 1)
- PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder. (PMID:33749153)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lrrc40 | ENSDARG00000017708 |
| mus_musculus | Lrrc40 | ENSMUSG00000063052 |
| rattus_norvegicus | Lrrc40 | ENSRNOG00000011555 |
Paralogs (31): LRRC7 (ENSG00000033122), PHLPP2 (ENSG00000040199), LRCH4 (ENSG00000077454), PHLPP1 (ENSG00000081913), SHOC2 (ENSG00000108061), ERBIN (ENSG00000112851), LRRC39 (ENSG00000122477), LRCH2 (ENSG00000130224), LRCH1 (ENSG00000136141), LRRC8A (ENSG00000136802), LRRC1 (ENSG00000137269), MFHAS1 (ENSG00000147324), LRRC27 (ENSG00000148814), LRRK1 (ENSG00000154237), LRRC58 (ENSG00000163428), LRRC2 (ENSG00000163827), LRRC18 (ENSG00000165383), LRRC28 (ENSG00000168904), LRRC8E (ENSG00000171017), LRRC8C (ENSG00000171488), LRRC8D (ENSG00000171492), PIDD1 (ENSG00000177595), SCRIB (ENSG00000180900), LRCH3 (ENSG00000186001), LRRIQ4 (ENSG00000188306), LRRC8B (ENSG00000197147), LRRC10 (ENSG00000198812), LRRC10B (ENSG00000204950), LRRC30 (ENSG00000206422), LRRC69 (ENSG00000214954), LRRD1 (ENSG00000240720)
Protein
Protein identifiers
Leucine-rich repeat-containing protein 40 — Q9H9A6 (reviewed: Q9H9A6)
All UniProt accessions (2): Q9H9A6, A0A140VJN3
RefSeq proteins (1): NP_060238* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001611 | Leu-rich_rpt | Repeat |
| IPR003591 | Leu-rich_rpt_typical-subtyp | Repeat |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
| IPR050333 | SLRP | Family |
Pfam: PF13855
UniProt features (25 total): repeat 20, sequence variant 2, chain 1, modified residue 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H9A6-F1 | 83.35 | 0.42 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 71
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 124 (showing top):
MODULE_256, DODD_NASOPHARYNGEAL_CARCINOMA_UP, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, ZHANG_BREAST_CANCER_PROGENITORS_UP, MOREAUX_MULTIPLE_MYELOMA_BY_TACI_DN, MARSON_BOUND_BY_E2F4_UNSTIMULATED, HAMAI_APOPTOSIS_VIA_TRAIL_UP, COLINA_TARGETS_OF_4EBP1_AND_4EBP2, FOSTER_KDM1A_TARGETS_DN, PDGF_ERK_DN.V1_DN, CREB3L4_TARGET_GENES, DIDO1_TARGET_GENES, DLX4_TARGET_GENES, HMG20B_TARGET_GENES, HOXB4_TARGET_GENES
GO Biological Process (1): intracellular signal transduction (GO:0035556)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (1): membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular anatomical structure | 1 |
| signal transduction | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1505 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LRRC40 | GML | Q99445 | 609 |
| LRRC40 | SMIM12 | Q96EX1 | 555 |
| LRRC40 | TUBB8 | Q3ZCM7 | 524 |
| LRRC40 | SHISA4 | Q96DD7 | 512 |
| LRRC40 | CLEC2L | P0C7M8 | 512 |
| LRRC40 | TEX2 | Q8IWB9 | 504 |
| LRRC40 | MNMIP1 | A4FU49 | 503 |
| LRRC40 | BTBD8 | Q5XKL5 | 498 |
| LRRC40 | NAIF1 | Q69YI7 | 487 |
| LRRC40 | ZC3H8 | Q8N5P1 | 480 |
| LRRC40 | CLIP1 | P30622 | 474 |
| LRRC40 | MYL4 | P11783 | 463 |
| LRRC40 | KCTD19 | Q17RG1 | 462 |
| LRRC40 | SPEF2 | Q9C093 | 460 |
| LRRC40 | NABP2 | Q9BQ15 | 456 |
IntAct
87 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CNOT6L | CNOT1 | psi-mi:“MI:0914”(association) | 0.810 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| LRRC57 | MACIR | psi-mi:“MI:0914”(association) | 0.640 |
| LRRC40 | PGK2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DNAL1 | LRRC40 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LRRC40 | PGK2 | psi-mi:“MI:0914”(association) | 0.560 |
| VASN | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| SKP2 | DPYSL4 | psi-mi:“MI:0914”(association) | 0.530 |
| USP47 | DENR | psi-mi:“MI:0914”(association) | 0.530 |
| LRIG1 | LRIG2 | psi-mi:“MI:0914”(association) | 0.530 |
| CNPY3 | SELENOT | psi-mi:“MI:0914”(association) | 0.530 |
| BAG2 | HGS | psi-mi:“MI:0914”(association) | 0.530 |
| LRRC27 | HMOX1 | psi-mi:“MI:0914”(association) | 0.530 |
| CNPY3 | LRIG2 | psi-mi:“MI:0914”(association) | 0.530 |
| KLHL15 | LRRC40 | psi-mi:“MI:0915”(physical association) | 0.400 |
| LRRC40 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| GTF2E2 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| KERA | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| ISLR | DDX11L8 | psi-mi:“MI:0914”(association) | 0.350 |
| AMTN | NARS1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (113): LRRC40 (Affinity Capture-MS), LRRC40 (Affinity Capture-MS), LRRC40 (Affinity Capture-MS), LRRC40 (Affinity Capture-MS), LRRC40 (Affinity Capture-MS), LRRC40 (Affinity Capture-MS), LRRC40 (Affinity Capture-MS), LRRC40 (Affinity Capture-MS), LRRC40 (Affinity Capture-MS), LRRC40 (Affinity Capture-MS), LRRC40 (Affinity Capture-MS), LRRC40 (Affinity Capture-MS), LRRC40 (Affinity Capture-MS), LRRC40 (Affinity Capture-MS), PGK2 (Affinity Capture-MS)
ESM2 similar proteins: A6QLV3, A7SFP1, A8XWW4, B0W6M9, B3LWU3, B3P3E8, B4IBI9, B4JTV9, B4LXW1, B4N9T4, B4PU77, B4QVR7, B5DX45, B6CZ61, B9F655, O35125, O88520, Q1L8Y7, Q22875, Q32KP2, Q4R3P6, Q4V8I7, Q53EV4, Q5F4C4, Q5FVI3, Q5GIG6, Q5M8G4, Q5RAV5, Q5RFE9, Q5ZLN0, Q6AYI5, Q6DHL5, Q6GPJ5, Q6INV3, Q6P1C6, Q6UXM1, Q6ZVD8, Q7SXW3, Q7Z4L9, Q80VQ1
Diamond homologs: A8WHP9, B0M0P8, B1H234, D3ZTV3, F1NUK7, F4J7T6, O02678, O35103, O35367, O42235, O43155, O46377, O46378, O46379, O46390, O46403, O60938, O62702, O77742, O81825, O94769, P0DV53, P12024, P13605, P19879, P20774, P21809, P21810, P28653, P28654, P47853, P50608, P50609, P51884, P51885, P51886, P51887, P51890, P59383, Q05443
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
89 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 59 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2717 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:70145902:TGTT:T | acceptor_gain | 1.0000 |
| 1:70145906:C:CC | acceptor_gain | 1.0000 |
| 1:70151201:TGTTC:T | acceptor_gain | 1.0000 |
| 1:70151205:CCTAA:C | acceptor_loss | 1.0000 |
| 1:70151206:C:CC | acceptor_gain | 1.0000 |
| 1:70151206:C:CG | acceptor_loss | 1.0000 |
| 1:70151211:T:TC | acceptor_gain | 1.0000 |
| 1:70152428:AATAC:A | donor_loss | 1.0000 |
| 1:70152429:ATACC:A | donor_loss | 1.0000 |
| 1:70152430:TA:T | donor_loss | 1.0000 |
| 1:70152431:A:T | donor_loss | 1.0000 |
| 1:70152432:C:CG | donor_loss | 1.0000 |
| 1:70152539:CCATC:C | acceptor_gain | 1.0000 |
| 1:70152540:CATC:C | acceptor_gain | 1.0000 |
| 1:70152540:CATCC:C | acceptor_gain | 1.0000 |
| 1:70152542:TC:T | acceptor_gain | 1.0000 |
| 1:70152543:CC:C | acceptor_gain | 1.0000 |
| 1:70152544:C:CC | acceptor_gain | 1.0000 |
| 1:70155792:TATCA:T | acceptor_gain | 1.0000 |
| 1:70155793:ATCA:A | acceptor_gain | 1.0000 |
| 1:70155794:TCA:T | acceptor_gain | 1.0000 |
| 1:70155795:CA:C | acceptor_gain | 1.0000 |
| 1:70155795:CAC:C | acceptor_gain | 1.0000 |
| 1:70155797:C:CC | acceptor_gain | 1.0000 |
| 1:70173616:ACTT:A | donor_loss | 1.0000 |
| 1:70173618:TTAC:T | donor_loss | 1.0000 |
| 1:70173619:TACAC:T | donor_loss | 1.0000 |
| 1:70173620:A:AC | donor_gain | 1.0000 |
| 1:70173621:C:CT | donor_gain | 1.0000 |
| 1:70173621:CA:C | donor_gain | 1.0000 |
AlphaMissense
3955 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:70189165:A:G | L87P | 0.998 |
| 1:70205419:A:G | L41S | 0.998 |
| 1:70187274:A:G | L133P | 0.997 |
| 1:70189096:A:G | L110P | 0.996 |
| 1:70189190:A:G | W79R | 0.996 |
| 1:70189190:A:T | W79R | 0.996 |
| 1:70189261:A:T | V55D | 0.996 |
| 1:70173655:A:C | N344K | 0.995 |
| 1:70173655:A:T | N344K | 0.995 |
| 1:70175821:A:C | N322K | 0.995 |
| 1:70175821:A:T | N322K | 0.995 |
| 1:70175831:A:G | L319P | 0.995 |
| 1:70187327:A:C | N115K | 0.995 |
| 1:70187327:A:T | N115K | 0.995 |
| 1:70189174:A:G | L84S | 0.995 |
| 1:70189188:C:A | W79C | 0.995 |
| 1:70189188:C:G | W79C | 0.995 |
| 1:70205425:C:T | G39D | 0.995 |
| 1:70145884:A:C | N575K | 0.994 |
| 1:70145884:A:T | N575K | 0.994 |
| 1:70148544:A:G | L549P | 0.994 |
| 1:70175962:G:C | N275K | 0.994 |
| 1:70175962:G:T | N275K | 0.994 |
| 1:70189149:A:C | N92K | 0.994 |
| 1:70189149:A:T | N92K | 0.994 |
| 1:70148505:C:T | G562D | 0.993 |
| 1:70148534:A:C | N552K | 0.993 |
| 1:70148534:A:T | N552K | 0.993 |
| 1:70175837:A:G | L317P | 0.993 |
| 1:70189096:A:T | L110H | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000105759 (1:70189781 G>A), RS1000179538 (1:70176399 G>A), RS1000237886 (1:70170577 T>A,C), RS1000317176 (1:70161753 G>C), RS1000462542 (1:70179980 G>A), RS1000561013 (1:70189410 A>T), RS1000596241 (1:70184167 T>C), RS1000644204 (1:70163135 G>A), RS1000651635 (1:70183854 C>G), RS1000747202 (1:70187328 T>C), RS1000784854 (1:70177817 T>C), RS1000810779 (1:70198603 G>C), RS1000882919 (1:70198261 T>C), RS1000901219 (1:70149095 T>C,G), RS1000901585 (1:70177452 C>T)
Disease associations
OMIM: gene `` | disease phenotypes: MIM:209850
GenCC curated gene-disease
Mondo (1): autism (MONDO:0005260)
Orphanet (0):
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000717 | Autism |
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001321 | Autistic Disorder | F03.625.164.113.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5724637 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
47 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| perfluorooctane sulfonic acid | decreases expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Valproic Acid | decreases expression, affects cotreatment, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| methylparaben | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | decreases expression, affects cotreatment | 1 |
| 2,3,5-(triglutathion-S-yl)hydroquinone | increases ADP-ribosylation | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| ICG 001 | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| jinfukang | decreases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenicals | increases methylation | 1 |
| Coal | decreases expression, increases abundance | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
ChEMBL screening assays
6 unique, capped per target: 6 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5697385 | Binding | Inhibition of LRRC40 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00211796 | PHASE4 | COMPLETED | Divalproex Sodium ER in Adult Autism |
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT00409747 | PHASE4 | COMPLETED | Minocycline to Treat Childhood Regressive Autism |
| NCT00576732 | PHASE4 | COMPLETED | A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder |
| NCT00844753 | PHASE4 | COMPLETED | Atomoxetine, Placebo and Parent Management Training in Autism |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders |
| NCT01098383 | PHASE4 | UNKNOWN | Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders |
| NCT01333865 | PHASE4 | COMPLETED | A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders |
| NCT01337700 | PHASE4 | COMPLETED | Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism |
| NCT01695200 | PHASE4 | COMPLETED | Omega-3 Fatty Acids in Autism Spectrum Disorders |
| NCT02069977 | PHASE4 | UNKNOWN | Study to Evaluate the Efficacy and Safety of Aripiprazole |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02199925 | PHASE4 | UNKNOWN | An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| NCT02255565 | PHASE4 | COMPLETED | Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study |
| NCT02940574 | PHASE4 | COMPLETED | Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders |
| NCT03333629 | PHASE4 | COMPLETED | Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes |
| NCT03337646 | PHASE4 | COMPLETED | Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism |
| NCT03538431 | PHASE4 | COMPLETED | Improving Driving in Young People With Autism Spectrum Disorders |
| NCT03757585 | PHASE4 | COMPLETED | Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) |
| NCT04903353 | PHASE4 | COMPLETED | Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole |
| NCT05063656 | PHASE4 | COMPLETED | Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin |
| NCT05146245 | PHASE4 | UNKNOWN | Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT |
| NCT05916339 | PHASE4 | RECRUITING | AWARE: Management of ADHD in Autism Spectrum Disorder |
| NCT05954052 | PHASE4 | TERMINATED | A Study of Glutathione in Children With Autism Spectrum Disorder |
| NCT06853665 | PHASE4 | RECRUITING | The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine |
| NCT07054697 | PHASE4 | COMPLETED | Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder |
| NCT07161804 | PHASE4 | COMPLETED | Pilot RCT Using Homeopathic Medicines in ASD |
| NCT07439042 | PHASE4 | NOT_YET_RECRUITING | Buspirone for Anxiety in Autistic Youth |
| NCT00036231 | PHASE3 | TERMINATED | Synthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction |
| NCT00036244 | PHASE3 | COMPLETED | Synthetic Human Secretin in Children With Autism |
| NCT00065884 | PHASE3 | UNKNOWN | Valproate Response in Aggressive Autistic Adolescents |
| NCT00065962 | PHASE3 | COMPLETED | Secretin for the Treatment of Autism |
| NCT00252603 | PHASE3 | COMPLETED | Galantamine Versus Placebo in Childhood Autism |
| NCT00346736 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00352248 | PHASE3 | COMPLETED | Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder |
| NCT00352352 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00355329 | PHASE3 | COMPLETED | Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation |
| NCT00498173 | PHASE3 | COMPLETED | Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism |
| NCT00541346 | PHASE3 | COMPLETED | A Pilot Study of Daytrana TM in Children With Autism Co-Morbid for Attention Deficit Hyperactivity Disorder (ADHD) Symptoms |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.