ADTRP
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Also known as dJ413H6.1AIG1L
Summary
ADTRP (androgen dependent TFPI regulating protein, HGNC:21214) is a protein-coding gene on chromosome 6p24.1, encoding Androgen-dependent TFPI-regulating protein (Q96IZ2). Hydrolyzes bioactive fatty-acid esters of hydroxy-fatty acids (FAHFAs), but not other major classes of lipids.
Enables hydrolase activity. Involved in several processes, including cell migration involved in sprouting angiogenesis; cellular response to oxidised low-density lipoprotein particle stimulus; and negative regulation of secretion by cell. Located in caveola and cell surface.
Source: NCBI Gene 84830 — RefSeq curated summary.
At a glance
- GWAS associations: 22
- Clinical variants (ClinVar): 57 total — 12 pathogenic
- MANE Select transcript:
NM_032744
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21214 |
| Approved symbol | ADTRP |
| Name | androgen dependent TFPI regulating protein |
| Location | 6p24.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | dJ413H6.1, AIG1L |
| Ensembl gene | ENSG00000111863 |
| Ensembl biotype | protein_coding |
| OMIM | 614348 |
| Entrez | 84830 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 6 protein_coding, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000229583, ENST00000379415, ENST00000414691, ENST00000485323, ENST00000503285, ENST00000505099, ENST00000506810, ENST00000512139, ENST00000513651, ENST00000514824, ENST00000894491
RefSeq mRNA: 2 — MANE Select: NM_032744
NM_001143948, NM_032744
CCDS: CCDS4521, CCDS47374
Canonical transcript exons
ENST00000414691 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001844667 | 11778607 | 11778803 |
| ENSE00001858441 | 11713523 | 11714512 |
| ENSE00003477093 | 11723349 | 11723500 |
| ENSE00003519109 | 11768249 | 11768383 |
| ENSE00003590997 | 11766274 | 11766375 |
| ENSE00003784748 | 11735568 | 11735683 |
Expression profiles
Bgee: expression breadth ubiquitous, 228 present calls, max score 98.00.
FANTOM5 (CAGE): breadth broad, TPM avg 5.4894 / max 337.7836, expressed in 329 samples.
FANTOM5 promoters (16 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 71767 | 3.2331 | 176 |
| 71766 | 0.7254 | 101 |
| 71749 | 0.6036 | 66 |
| 71751 | 0.2165 | 51 |
| 71752 | 0.1707 | 46 |
| 71750 | 0.1396 | 43 |
| 71768 | 0.0816 | 55 |
| 71770 | 0.0754 | 36 |
| 71772 | 0.0640 | 14 |
| 71769 | 0.0478 | 26 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 98.00 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 97.84 | gold quality |
| jejunal mucosa | UBERON:0000399 | 97.56 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 97.55 | gold quality |
| colonic mucosa | UBERON:0000317 | 96.57 | gold quality |
| rectum | UBERON:0001052 | 96.44 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 95.99 | gold quality |
| male germ cell | CL:0000015 | 94.78 | gold quality |
| upper leg skin | UBERON:0004262 | 94.33 | gold quality |
| ileal mucosa | UBERON:0000331 | 93.03 | gold quality |
| duodenum | UBERON:0002114 | 92.99 | gold quality |
| seminal vesicle | UBERON:0000998 | 90.03 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 89.55 | gold quality |
| mammalian vulva | UBERON:0000997 | 89.49 | gold quality |
| small intestine | UBERON:0002108 | 88.65 | gold quality |
| skin of abdomen | UBERON:0001416 | 88.34 | gold quality |
| corpus epididymis | UBERON:0004359 | 88.29 | gold quality |
| transverse colon | UBERON:0001157 | 87.91 | gold quality |
| left testis | UBERON:0004533 | 86.98 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 86.73 | gold quality |
| right testis | UBERON:0004534 | 86.58 | gold quality |
| zone of skin | UBERON:0000014 | 85.53 | gold quality |
| buccal mucosa cell | CL:0002336 | 85.21 | gold quality |
| testis | UBERON:0000473 | 85.19 | gold quality |
| skin of leg | UBERON:0001511 | 84.62 | gold quality |
| vermiform appendix | UBERON:0001154 | 84.18 | gold quality |
| cartilage tissue | UBERON:0002418 | 83.68 | gold quality |
| caecum | UBERON:0001153 | 83.22 | gold quality |
| colonic epithelium | UBERON:0000397 | 82.71 | gold quality |
| body of stomach | UBERON:0001161 | 82.20 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.83 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets.
| Target | Regulation |
|---|---|
| MIA3 | Activation |
| TFPI | Activation |
miRNA regulators (miRDB)
46 targeting ADTRP, 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-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-4420 | 99.82 | 70.08 | 1624 |
| HSA-MIR-181B-2-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-181B-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-6817-3P | 99.79 | 68.35 | 2126 |
| HSA-MIR-513C-5P | 99.50 | 68.42 | 1730 |
| HSA-MIR-514B-5P | 99.50 | 68.19 | 1766 |
| HSA-MIR-6165 | 99.44 | 67.12 | 1389 |
| HSA-MIR-183-3P | 99.41 | 69.41 | 1598 |
| HSA-MIR-6731-5P | 99.28 | 67.42 | 2375 |
| HSA-MIR-8085 | 99.28 | 67.56 | 2362 |
| HSA-MIR-4667-3P | 99.26 | 65.45 | 1608 |
| HSA-MIR-3978 | 99.24 | 68.39 | 2201 |
| HSA-MIR-122B-3P | 99.21 | 68.90 | 1333 |
| HSA-MIR-21-3P | 99.21 | 68.95 | 1312 |
Literature-anchored findings (GeneRIF, showing 14)
- This study confirms ADTRP expression and colocalization with TFPI and caveolin-1 in endothelial cell. (PMID:21868574)
- The single nucleotide polymorphism rs6903956 within the ADTRP gene on chromosome 6p24.1 is significantly associated with coronary artery disease in different ethnic groups of the Singaporean population. (PMID:23337689)
- ADTRP polymorphism is associated with the development of coronary atherosclerosis. (PMID:24573017)
- Activation of PPARG increases the expression of C6ORF105 in human macrophages and atherosclerotic lesions. (PMID:25595457)
- SNP rs6903956 associated with asymptomatic hyperuricemia susceptibility in Han Chinese (PMID:25928384)
- association of ADTRP with the pathogenesis of early-onset CAD (PMID:26375920)
- These results indicate that AIG1 and ADTRP are founding members of an evolutionarily conserved class of transmembrane threonine hydrolases involved in bioactive lipid metabolism. (PMID:27018888)
- ADTRP increases the number of S phase cells during cell cycle. (PMID:27235449)
- ADTRP positively regulates PIK3R3 expression, which leads to activation of AKT and up-regulation of MIA3/TANGO1, thereby regulating endothelial cell functions directly relevant to atherosclerosis. (PMID:28341552)
- These data suggest that one molecular mechanism by which androgen confers protection against coronary artery disease is stimulation of ADTRP expression. (PMID:28645652)
- Data identify POU1F1 as a transcription factor that regulates TFPI transcription in response to ADTRP, and link POU1F1 variants to risk of CAD for the first time. (PMID:32445923)
- Detection of ADTRP in circulation and its role as a novel biomarker for coronary artery disease. (PMID:32790694)
- GATA2 regulates the CAD susceptibility gene ADTRP rs6903956 through preferential interaction with the G allele. (PMID:33856550)
- Androgen-dependent tissue factor pathway inhibitor regulating protein: a review of its peripheral actions and association with cardiometabolic diseases. (PMID:34797389)
Cross-species orthologs
10 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | adtrp | ENSDARG00000086114 |
| mus_musculus | Adtrp | ENSMUSG00000058022 |
| rattus_norvegicus | Adtrp | ENSRNOG00000014481 |
| drosophila_melanogaster | CG11601 | FBGN0031244 |
| drosophila_melanogaster | CG3625 | FBGN0031245 |
| drosophila_melanogaster | CG6149 | FBGN0036158 |
| caenorhabditis_elegans | WBGENE00007068 | |
| caenorhabditis_elegans | WBGENE00007994 | |
| caenorhabditis_elegans | WBGENE00007995 | |
| caenorhabditis_elegans | WBGENE00304175 |
Paralogs (1): AIG1 (ENSG00000146416)
Protein
Protein identifiers
Androgen-dependent TFPI-regulating protein — Q96IZ2 (reviewed: Q96IZ2)
Alternative names: Fatty acid esters of hydroxy fatty acids hydrolase ADTRP
All UniProt accessions (5): Q96IZ2, D6R9A9, D6RDG9, H0Y9P4, H0YAA5
UniProt curated annotations — full annotation on UniProt →
Function. Hydrolyzes bioactive fatty-acid esters of hydroxy-fatty acids (FAHFAs), but not other major classes of lipids. Show a preference for FAHFAs with branching distal from the carboxylate head group of the lipids. Regulates the expression and the cell-associated anticoagulant activity of the inhibitor TFPI in endothelial cells (in vitro).
Subcellular location. Cell membrane.
Tissue specificity. Expressed in cultured endothelial cells and in placenta.
Activity regulation. Inhibited by N-hydroxyhydantoin carbamate JJH260 and beta-lactone KC01.
Induction. By androgens.
Similarity. Belongs to the AIG1 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96IZ2-1 | 1 | yes |
| Q96IZ2-2 | 2 | |
| Q96IZ2-3 | 3 |
RefSeq proteins (2): NP_001137420, NP_116133* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006838 | ADTRP_AIG1 | Family |
Pfam: PF04750
Catalyzed reactions (Rhea), 12 shown:
- 9-(9Z-octadecenoyloxy)-octadecanoate + H2O = 9-hydroxy-octadecanoate + (9Z)-octadecenoate + H(+) (RHEA:52048)
- 9-hexadecanoyloxy-octadecanoate + H2O = 9-hydroxy-octadecanoate + hexadecanoate + H(+) (RHEA:52052)
- 12-hexadecanoyloxy-octadecanoate + H2O = 12-hydroxyoctadecanoate + hexadecanoate + H(+) (RHEA:52056)
- 12-(9Z-octadecenoyloxy)-octadecanoate + H2O = 12-hydroxyoctadecanoate + (9Z)-octadecenoate + H(+) (RHEA:52060)
- 13-(9Z-octadecenoyloxy)-octadecanoate + H2O = 13-hydroxy-octadecanoate + (9Z)-octadecenoate + H(+) (RHEA:52064)
- 9-(9Z-hexadecenoyloxy)-octadecanoate + H2O = (9Z)-hexadecenoate + 9-hydroxy-octadecanoate + H(+) (RHEA:52068)
- 12-(9Z-hexadecenoyloxy)-octadecanoate + H2O = 12-hydroxyoctadecanoate + (9Z)-hexadecenoate + H(+) (RHEA:52072)
- 13-(9Z-hexadecenoyloxy)-octadecanoate + H2O = 13-hydroxy-octadecanoate + (9Z)-hexadecenoate + H(+) (RHEA:52076)
- 12-octadecanoyloxy-octadecanoate + H2O = 12-hydroxyoctadecanoate + octadecanoate + H(+) (RHEA:52080)
- 13-octadecanoyloxy-octadecanoate + H2O = 13-hydroxy-octadecanoate + octadecanoate + H(+) (RHEA:52084)
- 9-octadecanoyloxy-octadecanoate + H2O = 9-hydroxy-octadecanoate + octadecanoate + H(+) (RHEA:52096)
- 5-(9Z-octadecenoyloxy)-octadecanoate + H2O = 5-hydroxy-octadecanoate + (9Z)-octadecenoate + H(+) (RHEA:52100)
UniProt features (21 total): topological domain 7, transmembrane region 6, site 2, splice variant 2, mutagenesis site 2, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96IZ2-F1 | 90.99 | 0.82 |
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 (2): 47 (important for catalytic activity); 131 (important for catalytic activity)
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 47 | loss of hydrolase activity. |
| 131 | loss of hydrolase activity. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 0 (showing top):
GO Biological Process (13): cell migration involved in sprouting angiogenesis (GO:0002042), negative regulation of leukocyte migration (GO:0002686), negative regulation of extracellular matrix constituent secretion (GO:0003332), positive regulation of gene expression (GO:0010628), negative regulation of blood coagulation (GO:0030195), long-chain fatty acid catabolic process (GO:0042758), negative regulation of protein secretion (GO:0050709), positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051897), cellular response to steroid hormone stimulus (GO:0071383), cellular response to oxidised low-density lipoprotein particle stimulus (GO:0140052), negative regulation of leukocyte cell-cell adhesion (GO:1903038), negative regulation of lymphocyte migration (GO:2000402), lipid metabolic process (GO:0006629)
GO Molecular Function (2): hydrolase activity (GO:0016787), protein binding (GO:0005515)
GO Cellular Component (5): caveola (GO:0005901), cell surface (GO:0009986), endomembrane system (GO:0012505), membrane (GO:0016020), plasma membrane (GO:0005886)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| negative regulation of secretion by cell | 2 |
| sprouting angiogenesis | 1 |
| blood vessel endothelial cell migration | 1 |
| negative regulation of immune system process | 1 |
| regulation of leukocyte migration | 1 |
| negative regulation of cell migration | 1 |
| leukocyte migration | 1 |
| regulation of extracellular matrix constituent secretion | 1 |
| extracellular matrix constituent secretion | 1 |
| negative regulation of extracellular matrix organization | 1 |
| gene expression | 1 |
| regulation of gene expression | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| blood coagulation | 1 |
| regulation of blood coagulation | 1 |
| negative regulation of coagulation | 1 |
| negative regulation of wound healing | 1 |
| negative regulation of hemostasis | 1 |
| long-chain fatty acid metabolic process | 1 |
| fatty acid catabolic process | 1 |
| protein secretion | 1 |
| regulation of protein secretion | 1 |
| negative regulation of protein transport | 1 |
| phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1 |
| regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1 |
| positive regulation of intracellular signal transduction | 1 |
| cellular response to hormone stimulus | 1 |
| response to steroid hormone | 1 |
| cellular response to lipid | 1 |
| cellular response to low-density lipoprotein particle stimulus | 1 |
| leukocyte cell-cell adhesion | 1 |
| negative regulation of cell-cell adhesion | 1 |
| regulation of leukocyte cell-cell adhesion | 1 |
| negative regulation of mononuclear cell migration | 1 |
| lymphocyte migration | 1 |
| regulation of lymphocyte migration | 1 |
| primary metabolic process | 1 |
| catalytic activity | 1 |
| binding | 1 |
Protein interactions and networks
STRING
446 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ADTRP | ZNF202 | O95125 | 618 |
| ADTRP | TFPI | P10646 | 519 |
| ADTRP | TTC32 | Q5I0X7 | 507 |
| ADTRP | MIA3 | Q5JRA6 | 506 |
| ADTRP | SCN3B | Q9NY72 | 504 |
| ADTRP | STK32B | Q9NY57 | 497 |
| ADTRP | TRMO | Q9BU70 | 495 |
| ADTRP | TBX10 | O75333 | 493 |
| ADTRP | EVC2 | Q86UK5 | 492 |
| ADTRP | STX18 | Q9P2W9 | 492 |
| ADTRP | CRMP1 | Q14194 | 491 |
| ADTRP | HEMGN | Q9BXL5 | 491 |
| ADTRP | WNT11 | O96014 | 490 |
| ADTRP | SATB2 | Q9UPW6 | 469 |
| ADTRP | ADH1C | P00326 | 466 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CMTM7 | ADTRP | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMED8 | ADTRP | psi-mi:“MI:0915”(physical association) | 0.560 |
| ADTRP | CREB3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ADTRP | VTN | psi-mi:“MI:0915”(physical association) | 0.370 |
| ADTRP | S100B | psi-mi:“MI:0915”(physical association) | 0.370 |
| CREB3 | ADTRP | psi-mi:“MI:0915”(physical association) | 0.370 |
| TMED8 | ADTRP | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (6): ADTRP (Two-hybrid), ADTRP (Two-hybrid), ADTRP (Two-hybrid), CMTM7 (Two-hybrid), ADTRP (Affinity Capture-MS), VTN (Two-hybrid)
ESM2 similar proteins: A0JNC4, A1L3X0, A6ZSP9, B4QVX4, D4ADY9, G5ED45, G5EEE5, I1MSF2, O13752, O35949, O59735, P25358, P38703, P39540, P40319, P49191, Q03574, Q20300, Q20303, Q4D321, Q4D5J7, Q4DHY2, Q4DHY3, Q4DUK4, Q4DUK7, Q4QJ85, Q54CJ4, Q54TC9, Q555E8, Q57UP6, Q57UP7, Q57UP8, Q57X51, Q5GKZ7, Q5M828, Q60534, Q7Z139, Q86JM5, Q8C138, Q96IZ2
Diamond homologs: Q5M828, Q60534, Q8C138, Q96IZ2, Q9D8B1, Q9NVV5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
57 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 12 |
| Likely pathogenic | 0 |
| Uncertain significance | 33 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (12)
| Variant ID | HGVS | Classification |
|---|---|---|
| 154343 | GRCh38/hg38 6p24.2-23(chr6:10601499-13987316)x1 | Pathogenic |
| 154368 | GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1 | Pathogenic |
| 155267 | GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3 | Pathogenic |
| 155715 | GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1 | Pathogenic |
| 1810398 | GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3 | Pathogenic |
| 253430 | GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1 | Pathogenic |
| 2684439 | GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3 | Pathogenic |
| 560067 | Single allele | Pathogenic |
| 563139 | GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3 | Pathogenic |
| 563140 | GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3 | Pathogenic |
| 58124 | GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3 | Pathogenic |
| 687409 | GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3 | Pathogenic |
SpliceAI
1042 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:11735567:CCGG:C | donor_gain | 1.0000 |
| 6:11735680:TGTG:T | acceptor_gain | 1.0000 |
| 6:11766371:ACAAA:A | acceptor_gain | 1.0000 |
| 6:11766372:CAAA:C | acceptor_gain | 1.0000 |
| 6:11766372:CAAAC:C | acceptor_gain | 1.0000 |
| 6:11766373:AAA:A | acceptor_gain | 1.0000 |
| 6:11766374:AA:A | acceptor_gain | 1.0000 |
| 6:11766375:ACT:A | acceptor_loss | 1.0000 |
| 6:11766376:C:CC | acceptor_gain | 1.0000 |
| 6:11766376:CTG:C | acceptor_loss | 1.0000 |
| 6:11766383:A:AC | acceptor_gain | 1.0000 |
| 6:11766383:A:C | acceptor_gain | 1.0000 |
| 6:11768242:AACTT:A | donor_loss | 1.0000 |
| 6:11768243:ACTT:A | donor_loss | 1.0000 |
| 6:11768244:CTTAC:C | donor_loss | 1.0000 |
| 6:11768245:TTACC:T | donor_loss | 1.0000 |
| 6:11768246:TA:T | donor_loss | 1.0000 |
| 6:11768247:ACCGT:A | donor_loss | 1.0000 |
| 6:11735566:A:AC | donor_gain | 0.9900 |
| 6:11735567:C:CC | donor_gain | 0.9900 |
| 6:11735679:GTGTG:G | acceptor_gain | 0.9900 |
| 6:11735680:TGTGC:T | acceptor_loss | 0.9900 |
| 6:11735681:GTG:G | acceptor_gain | 0.9900 |
| 6:11735682:TG:T | acceptor_gain | 0.9900 |
| 6:11735683:GC:G | acceptor_loss | 0.9900 |
| 6:11735684:C:CA | acceptor_loss | 0.9900 |
| 6:11735684:C:CC | acceptor_gain | 0.9900 |
| 6:11735685:T:A | acceptor_loss | 0.9900 |
| 6:11766267:CACT:C | donor_loss | 0.9900 |
| 6:11766268:ACTC:A | donor_loss | 0.9900 |
AlphaMissense
1499 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:11766358:G:C | F102L | 0.986 |
| 6:11766358:G:T | F102L | 0.986 |
| 6:11766360:A:G | F102L | 0.986 |
| 6:11778714:A:G | W16R | 0.955 |
| 6:11778714:A:T | W16R | 0.955 |
| 6:11766291:A:G | W125R | 0.945 |
| 6:11766291:A:T | W125R | 0.945 |
| 6:11723407:G:C | S200R | 0.944 |
| 6:11723407:G:T | S200R | 0.944 |
| 6:11723409:T:G | S200R | 0.944 |
| 6:11723469:A:G | W180R | 0.939 |
| 6:11723469:A:T | W180R | 0.939 |
| 6:11766346:A:C | F106L | 0.939 |
| 6:11766346:A:T | F106L | 0.939 |
| 6:11766348:A:G | F106L | 0.939 |
| 6:11766357:A:G | W103R | 0.938 |
| 6:11766357:A:T | W103R | 0.938 |
| 6:11768276:G:C | F87L | 0.936 |
| 6:11768276:G:T | F87L | 0.936 |
| 6:11768278:A:G | F87L | 0.936 |
| 6:11723467:C:A | W180C | 0.928 |
| 6:11723467:C:G | W180C | 0.928 |
| 6:11768353:A:G | C62R | 0.923 |
| 6:11778610:A:C | N50K | 0.919 |
| 6:11778610:A:T | N50K | 0.919 |
| 6:11766283:A:C | N127K | 0.910 |
| 6:11766283:A:T | N127K | 0.910 |
| 6:11735681:G:C | H131Q | 0.901 |
| 6:11735681:G:T | H131Q | 0.901 |
| 6:11768366:G:C | F57L | 0.901 |
dbSNP variants (sampled 300 via entrez): RS1000099334 (6:11746190 A>C), RS1000102807 (6:11769441 A>T), RS1000116663 (6:11775315 C>T), RS1000133498 (6:11733657 C>T), RS1000162337 (6:11766161 G>A), RS1000224151 (6:11751362 C>A), RS1000373428 (6:11771512 G>A), RS1000379496 (6:11777836 T>C), RS1000387182 (6:11757441 G>A,C), RS1000400676 (6:11733886 C>A,T), RS1000483371 (6:11721344 C>G), RS1000525960 (6:11738186 A>C), RS1000578546 (6:11737884 C>A), RS1000624676 (6:11765871 T>G), RS1000634864 (6:11779779 A>G)
Disease associations
OMIM: gene MIM:614348 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
22 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001082_1 | Orofacial clefts (maternal alcohol consumption interaction) | 4.000000e-08 |
| GCST002200_1 | Anxiety and major depressive disorder | 8.000000e-06 |
| GCST003390_10 | Thrombosis | 4.000000e-07 |
| GCST003518_55 | Daytime sleep phenotypes | 1.000000e-06 |
| GCST005951_152 | Body mass index | 2.000000e-09 |
| GCST006665_5 | Social science traits (pleiotropy) (HIPO component 1) | 4.000000e-08 |
| GCST006923_10 | Loneliness | 3.000000e-09 |
| GCST006924_12 | Loneliness (MTAG) | 9.000000e-09 |
| GCST008551_23 | Simvastatin-induced myopathy | 9.000000e-06 |
| GCST009306_10 | Spatial processing | 5.000000e-06 |
| GCST010002_48 | Refractive error | 3.000000e-08 |
| GCST010243_151 | Apolipoprotein B levels | 1.000000e-08 |
| GCST010796_730 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-09 |
| GCST010796_731 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-08 |
| GCST010796_732 | Electrocardiogram morphology (amplitude at temporal datapoints) | 7.000000e-09 |
| GCST010796_733 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-08 |
| GCST010796_734 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-08 |
| GCST010796_735 | Electrocardiogram morphology (amplitude at temporal datapoints) | 8.000000e-09 |
| GCST010796_736 | Electrocardiogram morphology (amplitude at temporal datapoints) | 5.000000e-09 |
| GCST010796_737 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-08 |
| GCST010796_738 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-08 |
| GCST010796_739 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4.000000e-08 |
EFO canonical traits (11, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003959 | cleft lip |
| EFO:0003907 | deep vein thrombosis |
| EFO:0007828 | daytime rest measurement |
| EFO:0004340 | body mass index |
| EFO:0007006 | depressive symptom measurement |
| EFO:0007660 | neuroticism measurement |
| EFO:0007869 | wellbeing measurement |
| EFO:0007865 | loneliness measurement |
| EFO:0008354 | cognitive function measurement |
| EFO:0004615 | apolipoprotein B measurement |
| EFO:0004327 | electrocardiography |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PubChem BioAssay actives
2 with measured affinity, of 2 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| (6Z)-6-(2-oxo-4-tridecyloxetan-3-ylidene)hexanamide | 1801987: Gel-based ABPP Assay from Article 10.1038/nchembio.2051: “AIG1 and ADTRP are atypical integral membrane hydrolases that degrade bioactive FAHFAs.” | ic50 | 1.3000 | uM |
| [7-[4-(dimethylamino)benzoyl]-1,3-dioxo-5,6,8,8a-tetrahydroimidazo[1,5-a]pyrazin-2-yl] 4-[2-(4-chlorophenyl)ethyl]piperidine-1-carboxylate | 1801987: Gel-based ABPP Assay from Article 10.1038/nchembio.2051: “AIG1 and ADTRP are atypical integral membrane hydrolases that degrade bioactive FAHFAs.” | ic50 | 8.5000 | uM |
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression | 2 |
| (+)-JQ1 compound | decreases expression | 2 |
| Benzo(a)pyrene | decreases expression, increases methylation | 2 |
| Valproic Acid | decreases expression, decreases methylation, increases expression | 2 |
| Cadmium Chloride | increases expression | 2 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | decreases methylation, affects cotreatment | 1 |
| cobaltous chloride | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| tobacco tar | decreases reaction, increases expression | 1 |
| diallyl disulfide | decreases reaction, increases expression | 1 |
| hydroquinone | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 2,2’,4,4’,5-brominated diphenyl ether | increases expression | 1 |
| abrine | increases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Copper | increases expression, affects binding | 1 |
| Drugs, Chinese Herbal | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Lipopolysaccharides | affects cotreatment, increases expression | 1 |
| Nicotine | increases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Isotretinoin | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): myopathy, orofacial cleft, pulmonary embolism, stroke disorder, venous thromboembolism