IRAG1

Summary

IRAG1 (inositol 1,4,5-triphosphate receptor associated 1, HGNC:7237) is a protein-coding gene on chromosome 11p15.4, encoding Inositol 1,4,5-triphosphate receptor associated 1 (Q9Y6F6). Plays a role as NO/PRKG1-dependent regulator of IP3-induced calcium release; its phosphorylation by PRKG1 inhibits bradykinin and IP3-induced calcium release from intracellular stores.

This gene is similar to a putative mouse tumor suppressor gene (Mrvi1) that is frequently disrupted by mouse AIDS-related virus (MRV). The encoded protein, which is found in the membrane of the endoplasmic reticulum, is similar to Jaw1, a lymphoid-restricted protein whose expression is down-regulated during lymphoid differentiation. This protein is a substrate of cGMP-dependent kinase-1 (PKG1) that can function as a regulator of IP3-induced calcium release. Studies in mouse suggest that MRV integration at Mrvi1 induces myeloid leukemia by altering the expression of a gene important for myeloid cell growth and/or differentiation, and thus this gene may function as a myeloid leukemia tumor suppressor gene. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene, and alternative translation start sites, including a non-AUG (CUG) start site, are used.

Source: NCBI Gene 10335 — RefSeq curated summary.

At a glance

• GWAS associations: 27
• Clinical variants (ClinVar): 196 total
• MANE Select transcript: NM_130385

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7237
Approved symbol	IRAG1
Name	inositol 1,4,5-triphosphate receptor associated 1
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Aliases	JAW1L, IRAG
Ensembl gene	ENSG00000072952
Ensembl biotype	protein_coding
OMIM	604673
Entrez	10335

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 9 protein_coding, 5 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000423302, ENST00000424001, ENST00000526414, ENST00000529068, ENST00000529448, ENST00000529471, ENST00000529547, ENST00000531107, ENST00000531308, ENST00000531786, ENST00000532037, ENST00000533631, ENST00000534266, ENST00000541483, ENST00000547195, ENST00000558540, ENST00000894514

RefSeq mRNA: 6 — MANE Select: NM_130385 NM_001098579, NM_001100163, NM_001100167, NM_001206880, NM_001206881, NM_130385

CCDS: CCDS44538, CCDS44540, CCDS55745, CCDS55746

Canonical transcript exons

ENST00000423302 — 21 exons

Exon	Start	End
ENSE00002156720	10573095	10576575
ENSE00002197128	10693536	10693755
ENSE00003459121	10633968	10634071
ENSE00003472246	10591548	10591612
ENSE00003479962	10606742	10606772
ENSE00003486813	10580455	10580589
ENSE00003514529	10603120	10603251
ENSE00003522397	10623778	10623856
ENSE00003550911	10594146	10594195
ENSE00003556109	10593492	10593599
ENSE00003585090	10629538	10629711
ENSE00003605474	10627973	10628025
ENSE00003612045	10581867	10581986
ENSE00003612372	10652025	10652182
ENSE00003613820	10625966	10626583
ENSE00003642441	10609728	10609851
ENSE00003649927	10628751	10628828
ENSE00003666758	10600918	10601059
ENSE00003686706	10627716	10627760
ENSE00003688258	10604405	10604545
ENSE00003690052	10631991	10632061

Expression profiles

Bgee: expression breadth ubiquitous, 240 present calls, max score 99.59.

FANTOM5 (CAGE): breadth broad, TPM avg 6.5155 / max 308.3211, expressed in 566 samples.

FANTOM5 promoters (17 alternative TSS)

Promoter ID	TPM avg	Samples expressed
118621	3.3272	465
118629	0.7768	119
118631	0.3383	79
118626	0.2631	138
118622	0.2494	115
118624	0.2273	137
118625	0.2153	120
118633	0.1915	91
118627	0.1636	86
118635	0.1635	96

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
saphenous vein	UBERON:0007318	99.59	gold quality
urethra	UBERON:0000057	98.47	gold quality
right coronary artery	UBERON:0001625	98.34	gold quality
ascending aorta	UBERON:0001496	98.26	gold quality
thoracic aorta	UBERON:0001515	98.26	gold quality
vena cava	UBERON:0004087	98.20	gold quality
aorta	UBERON:0000947	98.18	gold quality
popliteal artery	UBERON:0002250	98.12	gold quality
tibial artery	UBERON:0007610	98.11	gold quality
descending thoracic aorta	UBERON:0002345	98.03	gold quality
lateral globus pallidus	UBERON:0002476	97.78	gold quality
lower esophagus muscularis layer	UBERON:0035833	97.49	gold quality
cardia of stomach	UBERON:0001162	97.45	gold quality
lower esophagus	UBERON:0013473	97.43	gold quality
lateral nuclear group of thalamus	UBERON:0002736	97.41	gold quality
coronary artery	UBERON:0001621	97.29	gold quality
left coronary artery	UBERON:0001626	97.13	gold quality
mucosa of stomach	UBERON:0001199	96.98	gold quality
smooth muscle tissue	UBERON:0001135	96.93	gold quality
superficial temporal artery	UBERON:0001614	96.91	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	96.89	gold quality
substantia nigra pars reticulata	UBERON:0001966	96.70	gold quality
globus pallidus	UBERON:0001875	96.49	gold quality
medial globus pallidus	UBERON:0002477	96.31	gold quality
cauda epididymis	UBERON:0004360	96.14	gold quality
ventral tegmental area	UBERON:0002691	96.13	gold quality
dorsal plus ventral thalamus	UBERON:0001897	96.11	gold quality
left uterine tube	UBERON:0001303	95.53	gold quality
myometrium	UBERON:0001296	95.50	gold quality
pericardium	UBERON:0002407	95.50	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	62.29
E-CURD-119	yes	16.88
E-ANND-3	yes	10.52
E-MTAB-2983	no	126.17

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): BCLAF1, BTF3

miRNA regulators (miRDB)

147 targeting IRAG1, 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-6867-5P	100.00	82.21	3464
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-371A-3P	99.99	66.77	91
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4739	99.84	65.25	1832

Literature-anchored findings (GeneRIF, showing 10)

• Reports use of non-AUG (CUG) translation initiation codon in one of the transcript variants of MRVI1 gene in mouse and human. (PMID:10321731)
• IRAG appears to be essentially involved in the NO/cGK-dependent inhibition of InsP(3)-dependent Ca(2+)-signaling in colonic smooth muscle (PMID:14729908)
• cGMP-dependent protein kinase Ibeta binds to TFII-I and IRAG through a common interaction motif (PMID:16166082)
• These findings reveal that interaction between IRAG and InsP3RI has a central role in NO/cGMP-dependent inhibition of platelet aggregation and in vivo thrombosis. (PMID:16990611)
• IRAG is required for PKG1beta-regulated cyclic calcium release during motility of osteoclasts (PMID:20567233)
• In the present study we analyzed the structure and function of the human IRAG/MRVI1 gene (PMID:21865585)
• p.P186S substitution (rs35857561) in MRVI1 that segregated with moyamoya syndrome in both the Italian and German family. rs35857561 polymorphism in MRVI1 may be a genetic susceptibility factor for moyamoya in European patients with neurofibromatosis type 1. MRVI1 is a functional partner of ITPR1, PRKG1 and GUCY1A3, which are involved in response to nitric oxide. (PMID:30001348)
• forced expression of MRVI1 in miR-940 mimic transfected cells abolished the facilitation of miR-940 on cell proliferation, migration, and invasion of RL95-2 and KLE cells. In conclusion, our study demonstrates that miR-940 might function as a reliable diagnostic and prognostic signature in endometrial carcinoma. (PMID:31085718)
• Homozygous mutation in murine retrovirus integration site 1 gene associated with a non-syndromic form of isolated familial achalasia. (PMID:32573102)
• P53-induced MRVI1 mediates carcinogenesis of colorectal cancer. (PMID:32589066)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	mrvi1	ENSDARG00000074602
mus_musculus	Irag1	ENSMUSG00000005611
rattus_norvegicus	Irag1	ENSRNOG00000017767

Paralogs (1): IRAG2 (ENSG00000118308)

Protein

Protein identifiers

Inositol 1,4,5-triphosphate receptor associated 1 — Q9Y6F6 (reviewed: Q9Y6F6)

Alternative names: Inositol 1,4,5-trisphosphate receptor-associated cGMP kinase substrate, JAW1-related protein MRVI1, Protein MRVI1

All UniProt accessions (7): Q9Y6F6, E9PJ61, E9PNK7, E9PRG4, E9PRH0, H0YCL0, H0YDM7

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role as NO/PRKG1-dependent regulator of IP3-induced calcium release; its phosphorylation by PRKG1 inhibits bradykinin and IP3-induced calcium release from intracellular stores. Recruits PRKG1 to the endoplasmic reticulum and may mediate the assembly of PRKG1 and ITPR1 in a macrocomplex. Involved in PRKG1 signaling cascade leading to inhibition of platelet activation and aggregation. Also mediates NO-dependent inhibition of calcium signaling in gastrointestinal smooth muscle contributing to NO-dependent relaxation. Plays a role in the regulation of cellular excitability by regulating the hyperpolarization-activated cyclic nucleotide-gated HCN4 channel activity.

Subunit / interactions. Part of cGMP kinase signaling complex at least composed of ACTA2/alpha-actin, CNN1/calponin H1, PLN/phospholamban, PRKG1 and ITPR1. Interacts with PRKG1/cGKI-beta and ITPR1/IP3R type I. Interacts with HCN4; regulates HCN4 channel activity.

Subcellular location. Cytoplasm. Perinuclear region. Sarcoplasmic reticulum. Membrane.

Tissue specificity. Expressed in the colon, rectum, and cultured colonic smooth muscle. Detected in various cancer cell lines.

Post-translational modifications. Phosphorylated by PRKG1/cGKI-beta; Ser-386 showed constitutive phosphorylation in platelets whereas Ser-676 is only phosphorylated in presence of cGMP and nitric oxide (NO); Ser-689 is phosphorylated in resting platelets but increases in presence of cGMP and NO. PRKG1 inhibitor prevents phosphorylation of Ser-676 and Ser-689 in response to NO and cGMP.

Induction. By silencing of the transcription factor BTF3.

Isoforms (9)

UniProt ID	Names	Canonical?
Q9Y6F6-9	9	yes
Q9Y6F6-2	2, IRAG1A
Q9Y6F6-3	3, IRAG1B
Q9Y6F6-4	4
Q9Y6F6-5	5
Q9Y6F6-6	6
Q9Y6F6-7	7
Q9Y6F6-8	8
Q9Y6F6-1	1

RefSeq proteins (6): NP_001092049, NP_001093633, NP_001093637, NP_001193809, NP_001193810, NP_569056* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008677	MRVI1	Family

Pfam: PF05781

UniProt features (44 total): compositionally biased region 9, splice variant 9, sequence conflict 8, region of interest 6, sequence variant 5, modified residue 4, chain 1, transmembrane region 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y6F6-F1	56.94	0.14

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 (4): 110, 386, 676, 689

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-418457	cGMP effects
R-HSA-109582	Hemostasis
R-HSA-392154	Nitric oxide stimulates guanylate cyclase
R-HSA-418346	Platelet homeostasis

MSigDB gene sets: 148 (showing top): FREAC2_01, GOBP_CIRCULATORY_SYSTEM_PROCESS, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, RORA1_01, XU_GH1_AUTOCRINE_TARGETS_UP, GOBP_NEGATIVE_REGULATION_OF_MUSCLE_CONTRACTION, GOBP_REGULATION_OF_SMOOTH_MUSCLE_CONTRACTION, TGACCTY_ERR1_Q2, CHANDRAN_METASTASIS_DN, CAGCTG_AP4_Q5, SRF_01, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, SRF_C, GOBP_REGULATION_OF_MUSCLE_CONTRACTION

GO Biological Process (3): obsolete cGMP-mediated signaling (GO:0019934), relaxation of vascular associated smooth muscle (GO:0060087), negative regulation of smooth muscle contraction (GO:0045986)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (6): endoplasmic reticulum membrane (GO:0005789), sarcoplasmic reticulum (GO:0016529), platelet dense tubular network membrane (GO:0031095), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Nitric oxide stimulates guanylate cyclase	1
Platelet homeostasis	1
Hemostasis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
vasodilation	1
relaxation of smooth muscle	1
negative regulation of smooth muscle contraction	1
smooth muscle contraction	1
regulation of smooth muscle contraction	1
negative regulation of muscle contraction	1
binding	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
endoplasmic reticulum	1
sarcoplasm	1
platelet dense tubular network	1
bounding membrane of organelle	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1350 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IRAG1	ITPR1	Q14643	931
IRAG1	PRKG1	P14619	915
IRAG1	ITPR3	Q14573	852
IRAG1	PEAR1	Q5VY43	619
IRAG1	PDE5A	O76074	607
IRAG1	KNG1	P01042	576
IRAG1	ASB5	Q8WWX0	527
IRAG1	RYR3	Q15413	506
IRAG1	BRCA1	P38398	485
IRAG1	CALML4	Q96GE6	483
IRAG1	CALML6	Q8TD86	480
IRAG1	CALML5	Q9NZT1	480
IRAG1	CALM1	P02593	469
IRAG1	CALML3	P27482	469
IRAG1	PTPRD	P23468	448

IntAct

12 interactions, top by confidence:

A	B	Type	Score
APBA2	USP20	psi-mi:“MI:0915”(physical association)	0.880
APBA2	USP33	psi-mi:“MI:0915”(physical association)	0.660
IRAG1	USP20	psi-mi:“MI:0915”(physical association)	0.400
IRAG1	USP33	psi-mi:“MI:0915”(physical association)	0.400
IRAG1	htpG	psi-mi:“MI:0915”(physical association)	0.370
IRAG1	bipA	psi-mi:“MI:0915”(physical association)	0.370
IRAG1		psi-mi:“MI:0915”(physical association)	0.370
IRAG1	iglC2	psi-mi:“MI:0915”(physical association)	0.370
MME		psi-mi:“MI:0914”(association)	0.350
RDX	RNF113A	psi-mi:“MI:0914”(association)	0.350
IRAG1	ITPRID2	psi-mi:“MI:0914”(association)	0.350
IRAG1	ITPR2	psi-mi:“MI:0914”(association)	0.350

BioGRID (23): MRVI1 (Two-hybrid), MRVI1 (Biochemical Activity), MRVI1 (Affinity Capture-Western), MRVI1 (Affinity Capture-Western), ITPR1 (Affinity Capture-Western), PRKG1 (Affinity Capture-Western), PRKG1 (Two-hybrid), PRKG1 (Affinity Capture-Western), ITPR2 (Affinity Capture-MS), ITPR1 (Affinity Capture-MS), MRVI1 (Affinity Capture-MS), ITPR3 (Affinity Capture-MS), SSFA2 (Affinity Capture-MS), BOK (Affinity Capture-MS), USP25 (Affinity Capture-MS)

ESM2 similar proteins: A0A8I5ZM56, A2AG50, A2AI08, A2AJI0, A5D7K1, D4A4L4, E1C2Q8, F1LR10, O00515, O14529, O75128, O88573, O88735, P51825, P57016, Q14244, Q32LQ1, Q3KQU3, Q3U2K0, Q5JTD0, Q5NBX1, Q5PR69, Q5R7F9, Q5XHX2, Q5ZIA2, Q5ZJJ1, Q68DK7, Q6IPM2, Q6NV74, Q6NZF1, Q6PDH0, Q6PDM1, Q6PG95, Q6ZU35, Q86UU1, Q8CCJ4, Q8K124, Q8N7J2, Q8TD55, Q96PV7

Diamond homologs: Q12912, Q5RHB5, Q60664, Q9N1F0, Q9WUX5, Q9Y6F6, Q2T9R2, Q80VJ8, Q8N6L0

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
BTF3	“down-regulates quantity by repression”	IRAG1	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	148
Likely benign	13
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

3933 predictions. Top by Δscore:

Variant	Effect	Δscore
11:10580479:T:TA	donor_gain	1.0000
11:10580585:GGAAT:G	acceptor_gain	1.0000
11:10580586:GAAT:G	acceptor_gain	1.0000
11:10580587:AAT:A	acceptor_gain	1.0000
11:10580588:AT:A	acceptor_gain	1.0000
11:10580590:C:CC	acceptor_gain	1.0000
11:10580590:CTGG:C	acceptor_loss	1.0000
11:10581862:CTCA:C	donor_loss	1.0000
11:10581863:TCA:T	donor_loss	1.0000
11:10581864:CACCC:C	donor_loss	1.0000
11:10581865:A:T	donor_loss	1.0000
11:10581865:AC:A	donor_gain	1.0000
11:10581865:ACC:A	donor_gain	1.0000
11:10581866:C:CA	donor_loss	1.0000
11:10581866:CC:C	donor_gain	1.0000
11:10581866:CCC:C	donor_gain	1.0000
11:10581987:C:CC	acceptor_gain	1.0000
11:10591617:G:GC	acceptor_gain	1.0000
11:10601059:CCTG:C	acceptor_loss	1.0000
11:10601060:CT:C	acceptor_loss	1.0000
11:10601061:T:A	acceptor_loss	1.0000
11:10603252:C:CC	acceptor_gain	1.0000
11:10627714:A:AC	donor_gain	1.0000
11:10627715:C:CC	donor_gain	1.0000
11:10627715:CAGG:C	donor_gain	1.0000
11:10628826:CAG:C	acceptor_gain	1.0000
11:10628827:AG:A	acceptor_gain	1.0000
11:10628827:AGC:A	acceptor_loss	1.0000
11:10628828:GCTG:G	acceptor_loss	1.0000
11:10628829:C:CC	acceptor_gain	1.0000

AlphaMissense

5912 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:10600974:A:G	L646P	1.000
11:10601007:A:G	L635P	1.000
11:10604529:A:G	L532P	1.000
11:10593574:A:T	V690D	0.999
11:10593576:G:C	S689R	0.999
11:10593576:G:T	S689R	0.999
11:10593578:T:G	S689R	0.999
11:10593582:C:A	R687S	0.999
11:10593582:C:G	R687S	0.999
11:10600961:T:A	K650N	0.999
11:10600961:T:G	K650N	0.999
11:10600981:C:G	A644P	0.999
11:10601052:C:G	R620P	0.999
11:10604463:C:G	R554P	0.999
11:10604476:C:G	A550P	0.999
11:10604527:A:G	S533P	0.999
11:10604537:A:C	F529L	0.999
11:10604537:A:T	F529L	0.999
11:10604539:A:G	F529L	0.999
11:10593571:G:T	A691D	0.998
11:10593580:A:T	V688D	0.998
11:10600962:T:A	K650I	0.998
11:10600964:A:C	F649L	0.998
11:10600964:A:T	F649L	0.998
11:10600966:A:G	F649L	0.998
11:10601003:C:A	K636N	0.998
11:10601003:C:G	K636N	0.998
11:10601020:A:C	Y631D	0.998
11:10601028:A:C	M628R	0.998
11:10601028:A:T	M628K	0.998

dbSNP variants (sampled 300 via entrez): RS1000040027 (11:10595051 A>G), RS1000059501 (11:10679024 C>G,T), RS1000086305 (11:10692726 C>T), RS1000119272 (11:10572873 T>C), RS1000179507 (11:10605411 C>G,T), RS1000188099 (11:10586890 C>T), RS1000193391 (11:10668839 T>G), RS1000200565 (11:10659912 G>A), RS1000250718 (11:10622104 G>A), RS1000282586 (11:10673075 G>A), RS1000300547 (11:10611811 G>A), RS1000367048 (11:10666885 G>C), RS1000392670 (11:10573264 T>A,C), RS1000394190 (11:10603764 G>A), RS1000417148 (11:10573705 C>G,T)

Disease associations

OMIM: gene MIM:604673 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

27 associations (top):

Study	Trait	p-value
GCST000693_4	Platelet aggregation	1.000000e-06
GCST003720_33	Migraine	3.000000e-11
GCST003986_13	Migraine	2.000000e-09
GCST004599_20	Mean platelet volume	5.000000e-15
GCST005337_18	Headache	5.000000e-09
GCST007798_127	Asthma	1.000000e-07
GCST007800_100	Asthma (childhood onset)	1.000000e-11
GCST008171_17	Platelet aggregation	6.000000e-07
GCST008171_19	Platelet aggregation	8.000000e-07
GCST008171_23	Platelet aggregation	2.000000e-06
GCST008171_27	Platelet aggregation	4.000000e-06
GCST008171_31	Platelet aggregation	6.000000e-06
GCST008403_19	Arterial stiffness index	3.000000e-08
GCST008916_71	Asthma	2.000000e-08
GCST009391_1443	Metabolite levels	5.000000e-06
GCST010042_53	Asthma	4.000000e-09
GCST010043_46	Asthma	2.000000e-10
GCST010083_260	Hemoglobin levels	1.000000e-09
GCST010244_431	Triglyceride levels	1.000000e-09
GCST90002383_30	Hematocrit	7.000000e-16
GCST90002384_286	Hemoglobin	4.000000e-17
GCST90002395_79	Mean platelet volume	3.000000e-33
GCST90002402_342	Platelet count	1.000000e-17
GCST90002403_243	Red blood cell count	3.000000e-10
GCST90007007_2	Gut microbiota relative abundance (Sutterella)	7.000000e-06
GCST90014033_98	Haemorrhoidal disease	4.000000e-16
GCST90014325_46	Asthma	6.000000e-09

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004517	arterial stiffness measurement
EFO:0010409	triacylglycerol 50:2 measurement
EFO:0004509	hemoglobin measurement
EFO:0004530	triglyceride measurement
EFO:0004348	hematocrit
EFO:0004309	platelet count
EFO:0004305	erythrocyte count
EFO:0007874	gut microbiome measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, affects cotreatment, decreases methylation	2
Smoke	increases abundance, increases expression	2
bisphenol F	affects cotreatment, increases methylation	1
methyleugenol	decreases expression	1
propionaldehyde	increases expression	1
trimellitic anhydride	decreases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
bisphenol S	increases methylation	1
(+)-JQ1 compound	decreases expression	1
Dasatinib	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation, increases methylation	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Bleomycin	decreases expression	1
Calcitriol	decreases expression	1
Coal	increases expression, increases abundance	1
Dexamethasone	increases expression	1
Estradiol	affects expression	1
Methotrexate	decreases expression	1
Nickel	decreases expression	1
Sodium Dodecyl Sulfate	increases expression	1
Thimerosal	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Aflatoxin B1	increases methylation	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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