ADTRP

gene
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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

FieldValue
HGNC IDHGNC:21214
Approved symbolADTRP
Nameandrogen dependent TFPI regulating protein
Location6p24.1
Locus typegene with protein product
StatusApproved
AliasesdJ413H6.1, AIG1L
Ensembl geneENSG00000111863
Ensembl biotypeprotein_coding
OMIM614348
Entrez84830

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

ExonStartEnd
ENSE000018446671177860711778803
ENSE000018584411171352311714512
ENSE000034770931172334911723500
ENSE000035191091176824911768383
ENSE000035909971176627411766375
ENSE000037847481173556811735683

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 IDTPM avgSamples expressed
717673.2331176
717660.7254101
717490.603666
717510.216551
717520.170746
717500.139643
717680.081655
717700.075436
717720.064014
717690.047826

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
spermCL:000001998.00gold quality
mucosa of transverse colonUBERON:000499197.84gold quality
jejunal mucosaUBERON:000039997.56gold quality
pigmented layer of retinaUBERON:000178297.55gold quality
colonic mucosaUBERON:000031796.57gold quality
rectumUBERON:000105296.44gold quality
mucosa of sigmoid colonUBERON:000499395.99gold quality
male germ cellCL:000001594.78gold quality
upper leg skinUBERON:000426294.33gold quality
ileal mucosaUBERON:000033193.03gold quality
duodenumUBERON:000211492.99gold quality
seminal vesicleUBERON:000099890.03gold quality
small intestine Peyer’s patchUBERON:000345489.55gold quality
mammalian vulvaUBERON:000099789.49gold quality
small intestineUBERON:000210888.65gold quality
skin of abdomenUBERON:000141688.34gold quality
corpus epididymisUBERON:000435988.29gold quality
transverse colonUBERON:000115787.91gold quality
left testisUBERON:000453386.98gold quality
palpebral conjunctivaUBERON:000181286.73gold quality
right testisUBERON:000453486.58gold quality
zone of skinUBERON:000001485.53gold quality
buccal mucosa cellCL:000233685.21gold quality
testisUBERON:000047385.19gold quality
skin of legUBERON:000151184.62gold quality
vermiform appendixUBERON:000115484.18gold quality
cartilage tissueUBERON:000241883.68gold quality
caecumUBERON:000115383.22gold quality
colonic epitheliumUBERON:000039782.71gold quality
body of stomachUBERON:000116182.20gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes10.83

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

2 targets.

TargetRegulation
MIA3Activation
TFPIActivation

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):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-7110-3P100.0073.182486
HSA-MIR-6873-3P100.0071.422626
HSA-MIR-607799.9968.042299
HSA-MIR-548AA99.9670.643753
HSA-MIR-548AP-3P99.9670.643753
HSA-MIR-548T-3P99.9670.643753
HSA-MIR-1468-3P99.9672.743797
HSA-MIR-552-5P99.9368.561583
HSA-MIR-990299.8969.152250
HSA-MIR-548D-3P99.8770.674362
HSA-MIR-548BB-3P99.8670.584354
HSA-MIR-548AC99.8470.774351
HSA-MIR-548H-3P99.8470.804349
HSA-MIR-548Z99.8470.804349
HSA-MIR-442099.8270.081624
HSA-MIR-181B-2-3P99.8170.061646
HSA-MIR-181B-3P99.8170.061646
HSA-MIR-4659A-3P99.8072.624248
HSA-MIR-4659B-3P99.8072.624248
HSA-MIR-6817-3P99.7968.352126
HSA-MIR-513C-5P99.5068.421730
HSA-MIR-514B-5P99.5068.191766
HSA-MIR-616599.4467.121389
HSA-MIR-183-3P99.4169.411598
HSA-MIR-6731-5P99.2867.422375
HSA-MIR-808599.2867.562362
HSA-MIR-4667-3P99.2665.451608
HSA-MIR-397899.2468.392201
HSA-MIR-122B-3P99.2168.901333
HSA-MIR-21-3P99.2168.951312

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

OrganismSymbolGene ID
danio_rerioadtrpENSDARG00000086114
mus_musculusAdtrpENSMUSG00000058022
rattus_norvegicusAdtrpENSRNOG00000014481
drosophila_melanogasterCG11601FBGN0031244
drosophila_melanogasterCG3625FBGN0031245
drosophila_melanogasterCG6149FBGN0036158
caenorhabditis_elegansWBGENE00007068
caenorhabditis_elegansWBGENE00007994
caenorhabditis_elegansWBGENE00007995
caenorhabditis_elegansWBGENE00304175

Paralogs (1): AIG1 (ENSG00000146416)

Protein

Protein identifiers

Androgen-dependent TFPI-regulating proteinQ96IZ2 (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 IDNamesCanonical?
Q96IZ2-11yes
Q96IZ2-22
Q96IZ2-33

RefSeq proteins (2): NP_001137420, NP_116133* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR006838ADTRP_AIG1Family

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)

ModelpLDDTFraction very-high
AF-Q96IZ2-F190.990.82

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):

PositionPhenotype
47loss of hydrolase activity.
131loss 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:

CategoryTerms
cellular anatomical structure3
negative regulation of secretion by cell2
sprouting angiogenesis1
blood vessel endothelial cell migration1
negative regulation of immune system process1
regulation of leukocyte migration1
negative regulation of cell migration1
leukocyte migration1
regulation of extracellular matrix constituent secretion1
extracellular matrix constituent secretion1
negative regulation of extracellular matrix organization1
gene expression1
regulation of gene expression1
positive regulation of macromolecule biosynthetic process1
blood coagulation1
regulation of blood coagulation1
negative regulation of coagulation1
negative regulation of wound healing1
negative regulation of hemostasis1
long-chain fatty acid metabolic process1
fatty acid catabolic process1
protein secretion1
regulation of protein secretion1
negative regulation of protein transport1
phosphatidylinositol 3-kinase/protein kinase B signal transduction1
regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction1
positive regulation of intracellular signal transduction1
cellular response to hormone stimulus1
response to steroid hormone1
cellular response to lipid1
cellular response to low-density lipoprotein particle stimulus1
leukocyte cell-cell adhesion1
negative regulation of cell-cell adhesion1
regulation of leukocyte cell-cell adhesion1
negative regulation of mononuclear cell migration1
lymphocyte migration1
regulation of lymphocyte migration1
primary metabolic process1
catalytic activity1
binding1

Protein interactions and networks

STRING

446 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ADTRPZNF202O95125618
ADTRPTFPIP10646519
ADTRPTTC32Q5I0X7507
ADTRPMIA3Q5JRA6506
ADTRPSCN3BQ9NY72504
ADTRPSTK32BQ9NY57497
ADTRPTRMOQ9BU70495
ADTRPTBX10O75333493
ADTRPEVC2Q86UK5492
ADTRPSTX18Q9P2W9492
ADTRPCRMP1Q14194491
ADTRPHEMGNQ9BXL5491
ADTRPWNT11O96014490
ADTRPSATB2Q9UPW6469
ADTRPADH1CP00326466

IntAct

11 interactions, top by confidence:

ABTypeScore
CMTM7ADTRPpsi-mi:“MI:0915”(physical association)0.560
TMED8ADTRPpsi-mi:“MI:0915”(physical association)0.560
ADTRPCREB3psi-mi:“MI:0915”(physical association)0.370
ADTRPVTNpsi-mi:“MI:0915”(physical association)0.370
ADTRPS100Bpsi-mi:“MI:0915”(physical association)0.370
CREB3ADTRPpsi-mi:“MI:0915”(physical association)0.370
TMED8ADTRPpsi-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):

ClassificationCount (floor)
Pathogenic12
Likely pathogenic0
Uncertain significance33
Likely benign2
Benign0

Top pathogenic / likely-pathogenic (12)

Variant IDHGVSClassification
154343GRCh38/hg38 6p24.2-23(chr6:10601499-13987316)x1Pathogenic
154368GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1Pathogenic
155267GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3Pathogenic
155715GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1Pathogenic
1810398GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3Pathogenic
253430GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1Pathogenic
2684439GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3Pathogenic
560067Single allelePathogenic
563139GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3Pathogenic
563140GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3Pathogenic
58124GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3Pathogenic
687409GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3Pathogenic

SpliceAI

1042 predictions. Top by Δscore:

VariantEffectΔscore
6:11735567:CCGG:Cdonor_gain1.0000
6:11735680:TGTG:Tacceptor_gain1.0000
6:11766371:ACAAA:Aacceptor_gain1.0000
6:11766372:CAAA:Cacceptor_gain1.0000
6:11766372:CAAAC:Cacceptor_gain1.0000
6:11766373:AAA:Aacceptor_gain1.0000
6:11766374:AA:Aacceptor_gain1.0000
6:11766375:ACT:Aacceptor_loss1.0000
6:11766376:C:CCacceptor_gain1.0000
6:11766376:CTG:Cacceptor_loss1.0000
6:11766383:A:ACacceptor_gain1.0000
6:11766383:A:Cacceptor_gain1.0000
6:11768242:AACTT:Adonor_loss1.0000
6:11768243:ACTT:Adonor_loss1.0000
6:11768244:CTTAC:Cdonor_loss1.0000
6:11768245:TTACC:Tdonor_loss1.0000
6:11768246:TA:Tdonor_loss1.0000
6:11768247:ACCGT:Adonor_loss1.0000
6:11735566:A:ACdonor_gain0.9900
6:11735567:C:CCdonor_gain0.9900
6:11735679:GTGTG:Gacceptor_gain0.9900
6:11735680:TGTGC:Tacceptor_loss0.9900
6:11735681:GTG:Gacceptor_gain0.9900
6:11735682:TG:Tacceptor_gain0.9900
6:11735683:GC:Gacceptor_loss0.9900
6:11735684:C:CAacceptor_loss0.9900
6:11735684:C:CCacceptor_gain0.9900
6:11735685:T:Aacceptor_loss0.9900
6:11766267:CACT:Cdonor_loss0.9900
6:11766268:ACTC:Adonor_loss0.9900

AlphaMissense

1499 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
6:11766358:G:CF102L0.986
6:11766358:G:TF102L0.986
6:11766360:A:GF102L0.986
6:11778714:A:GW16R0.955
6:11778714:A:TW16R0.955
6:11766291:A:GW125R0.945
6:11766291:A:TW125R0.945
6:11723407:G:CS200R0.944
6:11723407:G:TS200R0.944
6:11723409:T:GS200R0.944
6:11723469:A:GW180R0.939
6:11723469:A:TW180R0.939
6:11766346:A:CF106L0.939
6:11766346:A:TF106L0.939
6:11766348:A:GF106L0.939
6:11766357:A:GW103R0.938
6:11766357:A:TW103R0.938
6:11768276:G:CF87L0.936
6:11768276:G:TF87L0.936
6:11768278:A:GF87L0.936
6:11723467:C:AW180C0.928
6:11723467:C:GW180C0.928
6:11768353:A:GC62R0.923
6:11778610:A:CN50K0.919
6:11778610:A:TN50K0.919
6:11766283:A:CN127K0.910
6:11766283:A:TN127K0.910
6:11735681:G:CH131Q0.901
6:11735681:G:TH131Q0.901
6:11768366:G:CF57L0.901

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):

StudyTraitp-value
GCST001082_1Orofacial clefts (maternal alcohol consumption interaction)4.000000e-08
GCST002200_1Anxiety and major depressive disorder8.000000e-06
GCST003390_10Thrombosis4.000000e-07
GCST003518_55Daytime sleep phenotypes1.000000e-06
GCST005951_152Body mass index2.000000e-09
GCST006665_5Social science traits (pleiotropy) (HIPO component 1)4.000000e-08
GCST006923_10Loneliness3.000000e-09
GCST006924_12Loneliness (MTAG)9.000000e-09
GCST008551_23Simvastatin-induced myopathy9.000000e-06
GCST009306_10Spatial processing5.000000e-06
GCST010002_48Refractive error3.000000e-08
GCST010243_151Apolipoprotein B levels1.000000e-08
GCST010796_730Electrocardiogram morphology (amplitude at temporal datapoints)1.000000e-09
GCST010796_731Electrocardiogram morphology (amplitude at temporal datapoints)2.000000e-08
GCST010796_732Electrocardiogram morphology (amplitude at temporal datapoints)7.000000e-09
GCST010796_733Electrocardiogram morphology (amplitude at temporal datapoints)1.000000e-08
GCST010796_734Electrocardiogram morphology (amplitude at temporal datapoints)3.000000e-08
GCST010796_735Electrocardiogram morphology (amplitude at temporal datapoints)8.000000e-09
GCST010796_736Electrocardiogram morphology (amplitude at temporal datapoints)5.000000e-09
GCST010796_737Electrocardiogram morphology (amplitude at temporal datapoints)3.000000e-08
GCST010796_738Electrocardiogram morphology (amplitude at temporal datapoints)1.000000e-08
GCST010796_739Electrocardiogram morphology (amplitude at temporal datapoints)4.000000e-08

EFO canonical traits (11, from GWAS)

EFO IDTrait name
EFO:0003959cleft lip
EFO:0003907deep vein thrombosis
EFO:0007828daytime rest measurement
EFO:0004340body mass index
EFO:0007006depressive symptom measurement
EFO:0007660neuroticism measurement
EFO:0007869wellbeing measurement
EFO:0007865loneliness measurement
EFO:0008354cognitive function measurement
EFO:0004615apolipoprotein B measurement
EFO:0004327electrocardiography

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.

CompoundAssayTypeValueUnit
(6Z)-6-(2-oxo-4-tridecyloxetan-3-ylidene)hexanamide1801987: Gel-based ABPP Assay from Article 10.1038/nchembio.2051: “AIG1 and ADTRP are atypical integral membrane hydrolases that degrade bioactive FAHFAs.”ic501.3000uM
[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-carboxylate1801987: Gel-based ABPP Assay from Article 10.1038/nchembio.2051: “AIG1 and ADTRP are atypical integral membrane hydrolases that degrade bioactive FAHFAs.”ic508.5000uM

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
sodium arseniteincreases expression2
(+)-JQ1 compounddecreases expression2
Benzo(a)pyrenedecreases expression, increases methylation2
Valproic Aciddecreases expression, decreases methylation, increases expression2
Cadmium Chlorideincreases expression2
propionaldehydeincreases expression1
bisphenol Adecreases methylation, affects cotreatment1
cobaltous chloridedecreases expression1
butyraldehydeincreases expression1
tobacco tardecreases reaction, increases expression1
diallyl disulfidedecreases reaction, increases expression1
hydroquinoneincreases expression1
S-(1,2-dichlorovinyl)cysteineaffects cotreatment, increases expression1
di-n-butylphosphoric acidaffects expression1
2,2’,4,4’,5-brominated diphenyl etherincreases expression1
abrineincreases expression1
NSC 689534affects binding, increases expression1
theaflavin-3,3’-digallateaffects expression1
Fulvestrantaffects cotreatment, decreases methylation1
Air Pollutantsincreases abundance, increases expression1
Copperincreases expression, affects binding1
Drugs, Chinese Herbalincreases expression1
Formaldehydeincreases expression1
Lipopolysaccharidesaffects cotreatment, increases expression1
Nicotineincreases expression1
Silicon Dioxidedecreases expression1
Tobacco Smoke Pollutiondecreases expression1
Isotretinoindecreases expression1
Cyclosporinedecreases expression1
Okadaic Aciddecreases expression1

Clinical trials (associated diseases)

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