ARHGEF17

Summary

ARHGEF17 (Rho guanine nucleotide exchange factor 17, HGNC:21726) is a protein-coding gene on chromosome 11q13.4, encoding Rho guanine nucleotide exchange factor 17 (Q96PE2). Acts as a guanine nucleotide exchange factor (GEF) for RhoA GTPases.

Enables guanyl-nucleotide exchange factor activity. Acts upstream of or within actin cytoskeleton organization. Predicted to be located in cytosol. Predicted to be active in cytoplasm.

Source: NCBI Gene 9828 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 400 total
• MANE Select transcript: NM_014786

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21726
Approved symbol	ARHGEF17
Name	Rho guanine nucleotide exchange factor 17
Location	11q13.4
Locus type	gene with protein product
Status	Approved
Aliases	TEM4, KIAA0337, p164-RhoGEF
Ensembl gene	ENSG00000110237
Ensembl biotype	protein_coding
OMIM	617043
Entrez	9828

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 4 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000263674, ENST00000536170, ENST00000536481, ENST00000537198, ENST00000543530, ENST00000544519, ENST00000643371, ENST00000914587

RefSeq mRNA: 1 — MANE Select: NM_014786 NM_014786

CCDS: CCDS8221

Canonical transcript exons

ENST00000263674 — 21 exons

Exon	Start	End
ENSE00000739802	73365390	73365564
ENSE00000739804	73364452	73364600
ENSE00000739807	73364172	73364239
ENSE00000739823	73355861	73355953
ENSE00000739824	73355533	73355649
ENSE00000797490	73352830	73353012
ENSE00001062888	73357025	73357134
ENSE00001062890	73363206	73363455
ENSE00001062891	73359834	73359952
ENSE00001062892	73356709	73356759
ENSE00001062893	73360320	73360533
ENSE00001062899	73357242	73357327
ENSE00001154988	73363747	73363833
ENSE00001154998	73362433	73362734
ENSE00001155004	73362040	73362239
ENSE00001155010	73361088	73361161
ENSE00001155041	73356175	73356351
ENSE00001155082	73308276	73311830
ENSE00003519834	73365678	73365947
ENSE00003565167	73346883	73346960
ENSE00003825285	73367584	73369388

Expression profiles

Bgee: expression breadth ubiquitous, 268 present calls, max score 98.24.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.6751 / max 109.5309, expressed in 1503 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
115788	5.2011	1401
115790	4.4153	1117
115797	0.9547	129
115798	0.6413	118
115789	0.3277	177
115795	0.0813	36
115796	0.0536	24

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
descending thoracic aorta	UBERON:0002345	98.24	gold quality
popliteal artery	UBERON:0002250	98.20	gold quality
tibial artery	UBERON:0007610	98.20	gold quality
thoracic aorta	UBERON:0001515	98.14	gold quality
aorta	UBERON:0000947	98.13	gold quality
ascending aorta	UBERON:0001496	98.13	gold quality
right coronary artery	UBERON:0001625	98.04	gold quality
apex of heart	UBERON:0002098	97.47	gold quality
right lobe of thyroid gland	UBERON:0001119	97.30	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.25	gold quality
metanephros cortex	UBERON:0010533	97.13	gold quality
lower esophagus muscularis layer	UBERON:0035833	97.10	gold quality
left coronary artery	UBERON:0001626	97.09	gold quality
lower esophagus	UBERON:0013473	97.05	gold quality
peripheral nervous system	UBERON:0000010	97.00	gold quality
nerve	UBERON:0001021	97.00	gold quality
tibial nerve	UBERON:0001323	97.00	gold quality
left lobe of thyroid gland	UBERON:0001120	96.96	gold quality
body of uterus	UBERON:0009853	96.91	gold quality
coronary artery	UBERON:0001621	96.85	gold quality
cerebellar hemisphere	UBERON:0002245	96.80	gold quality
mucosa of stomach	UBERON:0001199	96.79	gold quality
cerebellar cortex	UBERON:0002129	96.75	gold quality
stromal cell of endometrium	CL:0002255	96.45	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	96.41	gold quality
endocervix	UBERON:0000458	96.24	gold quality
left uterine tube	UBERON:0001303	96.07	gold quality
muscle layer of sigmoid colon	UBERON:0035805	96.06	gold quality
thyroid gland	UBERON:0002046	95.94	gold quality
cerebellum	UBERON:0002037	95.90	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	12.31
E-MTAB-6678	yes	11.39

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1

miRNA regulators (miRDB)

68 targeting ARHGEF17, 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-9-5P	100.00	72.28	2361
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-520G-5P	99.99	66.76	658
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
HSA-MIR-7978	99.86	66.90	856
HSA-MIR-373-3P	99.84	70.68	1668
HSA-MIR-520E-3P	99.84	70.55	1698
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-372-3P	99.83	70.58	1691
HSA-MIR-520A-3P	99.83	70.59	1687
HSA-MIR-520B-3P	99.83	70.56	1699

Literature-anchored findings (GeneRIF, showing 8)

• a Rho-specific GEF with novel structural and regulatory properties and predominant expression in the heart (PMID:12071859)
• Identification of ARHGEF17, mutations in melanoma. (PMID:18677770)
• TEM4 contains a novel actin binding domain and binding to actin is essential for TEM4 subcellular localization and activity. (PMID:22911862)
• The rho guanine nucleotide exchange factor 17 is drastically alter the effect of cGMP/cGK involving signaling pathways on RhoA-activated downstream effectors. (PMID:23195829)
• data implicate TEM4 as an essential regulator of the actin cytoskeleton that ensures proper membrane protrusion at the leading edge of migrating cells and efficient cellular migration via suppression of actomyosin contractility (PMID:23825001)
• Interaction of the central domain of ARHGEF17 with Mps1. (PMID:26953350)
• results provide compelling evidence that ARHGEF17 is a risk gene for Intracranial aneurysm. (PMID:29997225)
• RhoGEF17-An Essential Regulator of Endothelial Cell Death and Growth. (PMID:33801779)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	arhgef17	ENSDARG00000101644
mus_musculus	Arhgef17	ENSMUSG00000032875
rattus_norvegicus	Arhgef17	ENSRNOG00000053502
caenorhabditis_elegans		WBGENE00019832

Paralogs (2): ARHGEF10L (ENSG00000074964), ARHGEF10 (ENSG00000104728)

Protein

Protein identifiers

Rho guanine nucleotide exchange factor 17 — Q96PE2 (reviewed: Q96PE2)

Alternative names: 164 kDa Rho-specific guanine-nucleotide exchange factor, Tumor endothelial marker 4

All UniProt accessions (3): Q96PE2, A0A2R8Y4D7, H0YFZ8

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a guanine nucleotide exchange factor (GEF) for RhoA GTPases.

Tissue specificity. Highly expressed in the heart.

RefSeq proteins (1): NP_055601* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000219	DH_dom	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR035899	DBL_dom_sf	Homologous_superfamily
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR039919	ARHGEF10/ARHGEF17	Family

Pfam: PF00621, PF19056, PF19057

UniProt features (52 total): modified residue 21, compositionally biased region 17, region of interest 9, sequence variant 2, chain 1, domain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96PE2-F1	51.50	0.15

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 (21): 142, 152, 310, 326, 332, 383, 387, 395, 410, 420, 461, 546, 619, 696, 699, 702, 735, 914, 961, 1002 …

Function

Pathways and Gene Ontology

Reactome pathways

14 pathways

ID	Pathway
R-HSA-193648	NRAGE signals death through JNK
R-HSA-416482	G alpha (12/13) signalling events
R-HSA-8980692	RHOA GTPase cycle
R-HSA-9013026	RHOB GTPase cycle
R-HSA-9013106	RHOC GTPase cycle
R-HSA-162582	Signal Transduction
R-HSA-193704	p75 NTR receptor-mediated signalling
R-HSA-194315	Signaling by Rho GTPases
R-HSA-204998	Cell death signalling via NRAGE, NRIF and NADE
R-HSA-372790	Signaling by GPCR
R-HSA-388396	GPCR downstream signalling
R-HSA-73887	Death Receptor Signaling
R-HSA-9012999	RHO GTPase cycle
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 129 (showing top): RNGTGGGC_UNKNOWN, VERHAAK_AML_WITH_NPM1_MUTATED_DN, PEREZ_TP63_TARGETS, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, REACTOME_NRAGE_SIGNALS_DEATH_THROUGH_JNK, chr11q13, BROWNE_HCMV_INFECTION_14HR_DN, PETRETTO_HEART_MASS_QTL_CIS_DN, ZIC1_01, AAAGACA_MIR511, HFH1_01, AACTTT_UNKNOWN, PEREZ_TP53_AND_TP63_TARGETS, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION

GO Biological Process (2): actin cytoskeleton organization (GO:0030036), regulation of small GTPase mediated signal transduction (GO:0051056)

GO Molecular Function (2): guanyl-nucleotide exchange factor activity (GO:0005085), protein binding (GO:0005515)

GO Cellular Component (2): cytoplasm (GO:0005737), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-9 pathways:

Category	Pathways
RHO GTPase cycle	3
Signal Transduction	3
Cell death signalling via NRAGE, NRIF and NADE	1
GPCR downstream signalling	1
Death Receptor Signaling	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
p75 NTR receptor-mediated signalling	1
Signaling by GPCR	1
Signaling by Rho GTPases	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
cytoskeleton organization	1
actin filament-based process	1
small GTPase-mediated signal transduction	1
regulation of intracellular signal transduction	1
GTP binding	1
GDP binding	1
GTPase regulator activity	1
binding	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

970 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARHGEF17	CDC42	P21181	673
ARHGEF17	PLXDC1	Q8IUK5	640
ARHGEF17	CDH17	Q12864	637
ARHGEF17	RABIF	P47224	635
ARHGEF17	RHOA	P06749	610
ARHGEF17	NUAK2	Q9H093	530
ARHGEF17	RASD2	Q96D21	517
ARHGEF17	CDH1	P12830	486
ARHGEF17	TIAM1	Q13009	486
ARHGEF17	CD248	Q9HCU0	479
ARHGEF17	ARHGEF40	Q8TER5	472
ARHGEF17	CXXC1	Q9P0U4	456
ARHGEF17	ARHGAP18	Q8N392	452
ARHGEF17	THSD1	Q9NS62	442
ARHGEF17	REPIN1	Q9BWE0	441

IntAct

55 interactions, top by confidence:

A	B	Type	Score
RASL12	FHL2	psi-mi:“MI:0914”(association)	0.740
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
NCK2	SH3PXD2B	psi-mi:“MI:0914”(association)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
YWHAB	BLTP3B	psi-mi:“MI:2364”(proximity)	0.610
RERG	ARHGEF17	psi-mi:“MI:0915”(physical association)	0.590
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
OTX1	ARHGEF17	psi-mi:“MI:0915”(physical association)	0.560
WDR83	SH2B2	psi-mi:“MI:0914”(association)	0.530
PNMA2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
RASL11A	ARHGEF17	psi-mi:“MI:0915”(physical association)	0.500
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
YWHAQ	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
ARHGEF17	BCAP29	psi-mi:“MI:0915”(physical association)	0.400
ARHGEF17	H1-5	psi-mi:“MI:0915”(physical association)	0.400
SFN	ARHGEF17	psi-mi:“MI:0915”(physical association)	0.400
ANLN	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MYO18A	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Vamp2	RTL8C	psi-mi:“MI:0914”(association)	0.350
Tpm1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Coro1c	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Kif2a	GMDS	psi-mi:“MI:0914”(association)	0.350
SYNPO	LMO7	psi-mi:“MI:0914”(association)	0.350
Myh10	NAP1L1	psi-mi:“MI:0914”(association)	0.350
CAPZA2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
IQGAP1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MYH9	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
WDR83	PIKFYVE	psi-mi:“MI:0914”(association)	0.350

BioGRID (75): ARHGEF17 (Affinity Capture-RNA), ARHGEF17 (Affinity Capture-MS), ARHGEF17 (Affinity Capture-MS), ARHGEF17 (Affinity Capture-MS), ARHGEF17 (Affinity Capture-MS), ARHGEF17 (Affinity Capture-MS), ARHGEF17 (Affinity Capture-MS), ARHGEF17 (Affinity Capture-MS), ARHGEF17 (Affinity Capture-MS), ARHGEF17 (Affinity Capture-MS), ARHGEF17 (Affinity Capture-MS), ARHGEF17 (Affinity Capture-MS), ARHGEF17 (Affinity Capture-MS), ARHGEF17 (Affinity Capture-MS), ARHGEF17 (Affinity Capture-MS)

ESM2 similar proteins: A0A2Z4LIS9, A6QPM6, A7X8B3, A7X8B5, A7X8B7, A7X8C4, A7X8C7, A7X8C9, A7XW16, A7XW20, A7XW25, O08664, O15054, O43151, O70218, O89113, P09066, P14652, P17542, P19419, P19622, P22091, P23683, P49640, P70061, P78412, P82976, P97503, Q00587, Q04890, Q05916, Q05917, Q12950, Q15270, Q17QW1, Q3U133, Q5JPB2, Q5NCY0, Q6ZW13, Q80WY3

Diamond homologs: A2CG49, A8DYP0, F1M0Z1, O15068, O60229, O75962, P10911, P97924, Q0KL02, Q13009, Q14155, Q1LUA6, Q58EX7, Q5M7P4, Q60610, Q63406, Q64096, Q6GNM9, Q6GPX2, Q6KAU7, Q6P720, Q6XZF7, Q6ZPF3, Q7SX85, Q80U35, Q80UK0, Q86VW0, Q86VW2, Q86YR7, Q8IVF5, Q96PE2, Q96PX9, Q9CWR0, Q9H7P9, A1L390, A2AWP8, A5D7D1, D3ZHA0, D3ZHV2, L7UZ85

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
ARHGEF17	“up-regulates activity”	RHOA	“guanine nucleotide exchange factor”
TTK	“down-regulates activity”	ARHGEF17	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 59 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Activation of BAD and translocation to mitochondria	5	108.8×	7e-08
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	5	96.0×	7e-08
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	5	96.0×	7e-08
Activation of BH3-only proteins	5	70.9×	2e-07
RHO GTPases activate PKNs	6	54.4×	7e-08
Intrinsic Pathway for Apoptosis	5	41.8×	3e-06
Translocation of SLC2A4 (GLUT4) to the plasma membrane	7	30.9×	1e-07
SARS-CoV-1-host interactions	5	25.1×	3e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	344
Likely benign	28
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

3845 predictions. Top by Δscore:

Variant	Effect	Δscore
11:73346927:GTC:G	donor_gain	1.0000
11:73355530:CAGT:C	acceptor_loss	1.0000
11:73355531:A:AG	acceptor_gain	1.0000
11:73355532:G:GT	acceptor_gain	1.0000
11:73355835:ACAT:A	acceptor_gain	1.0000
11:73355850:AT:A	acceptor_gain	1.0000
11:73355851:T:TA	acceptor_gain	1.0000
11:73355852:G:A	acceptor_gain	1.0000
11:73355857:TCAG:T	acceptor_loss	1.0000
11:73355858:CAGCA:C	acceptor_loss	1.0000
11:73355859:A:AG	acceptor_gain	1.0000
11:73355860:G:GG	acceptor_gain	1.0000
11:73355860:GC:G	acceptor_gain	1.0000
11:73355860:GCAAA:G	acceptor_gain	1.0000
11:73356168:A:AG	acceptor_gain	1.0000
11:73356169:C:G	acceptor_gain	1.0000
11:73356170:CCCA:C	acceptor_loss	1.0000
11:73356171:CCAG:C	acceptor_loss	1.0000
11:73356172:CA:C	acceptor_loss	1.0000
11:73356173:A:AC	acceptor_loss	1.0000
11:73356173:A:AG	acceptor_gain	1.0000
11:73356173:AG:A	acceptor_gain	1.0000
11:73356174:G:GC	acceptor_gain	1.0000
11:73356174:GG:G	acceptor_gain	1.0000
11:73356174:GGA:G	acceptor_gain	1.0000
11:73356174:GGAC:G	acceptor_gain	1.0000
11:73356174:GGACC:G	acceptor_gain	1.0000
11:73356289:G:GT	donor_gain	1.0000
11:73356319:G:GT	donor_gain	1.0000
11:73356346:G:GT	donor_gain	1.0000

AlphaMissense

13292 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:73346944:T:C	L1085P	1.000
11:73355633:T:C	F1185S	1.000
11:73355642:T:C	F1188S	1.000
11:73355904:T:C	L1205P	1.000
11:73355923:G:C	Q1211H	1.000
11:73355923:G:T	Q1211H	1.000
11:73355943:T:C	L1218P	1.000
11:73356179:T:C	L1223P	1.000
11:73356221:T:C	L1237P	1.000
11:73357059:T:C	F1309S	1.000
11:73357074:T:C	L1314P	1.000
11:73357094:A:G	K1321E	1.000
11:73357279:T:G	Y1347D	1.000
11:73361118:T:C	F1484S	1.000
11:73361136:T:A	I1490N	1.000
11:73361142:A:T	K1492I	1.000
11:73361157:T:C	M1497T	1.000
11:73362040:T:C	F1499L	1.000
11:73362041:T:C	F1499S	1.000
11:73362041:T:G	F1499C	1.000
11:73362042:C:A	F1499L	1.000
11:73362042:C:G	F1499L	1.000
11:73362094:T:A	W1517R	1.000
11:73362094:T:C	W1517R	1.000
11:73362100:T:C	C1519R	1.000
11:73362101:G:A	C1519Y	1.000
11:73362102:C:G	C1519W	1.000
11:73362105:C:A	N1520K	1.000
11:73362105:C:G	N1520K	1.000
11:73362106:A:C	S1521R	1.000

dbSNP variants (sampled 300 via entrez): RS1000000967 (11:73337463 A>G), RS1000035966 (11:73326179 A>C), RS1000112477 (11:73327670 C>T), RS1000123884 (11:73322465 T>C), RS1000163021 (11:73366826 G>A), RS1000232171 (11:73339247 C>T), RS1000249915 (11:73343209 C>T), RS1000418242 (11:73320022 C>T), RS1000446040 (11:73338868 G>T), RS1000497656 (11:73326496 G>A,T), RS1000514886 (11:73331405 GCCCCTGGA>G), RS1000525446 (11:73349160 T>G), RS1000552174 (11:73326715 C>T), RS1000574428 (11:73355288 A>G), RS1000621222 (11:73366434 T>G)

Disease associations

OMIM: gene MIM:617043 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST005166_11	GIP levels in response to oral glucose tolerance test (120 minutes)	1.000000e-06
GCST007430_84	Peak expiratory flow	2.000000e-07
GCST007431_161	Lung function (FEV1/FVC)	1.000000e-22
GCST007432_143	FEV1	3.000000e-14
GCST010002_243	Refractive error	1.000000e-13

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004307	glucose tolerance test
EFO:0008464	glucose-dependent insulinotropic peptide measurement
EFO:0009718	peak expiratory flow
EFO:0004713	FEV/FVC ratio
EFO:0004314	forced expiratory volume

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases methylation	2
Estradiol	affects expression, affects cotreatment, decreases expression	2
aristolochic acid I	increases expression	1
GSK-J4	increases expression	1
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, increases methylation	1
triphenyl phosphate	affects expression	1
8-bromocyclic GMP	affects cotreatment, increases activity	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
muconaldehyde	decreases expression	1
8-((4-chlorophenyl)thio)cyclic-3’,5’-GMP	increases phosphorylation, affects cotreatment, decreases reaction, increases activity, increases reaction (+1 more)	1
calyculin A	increases activity, affects cotreatment, decreases reaction	1
exoenzyme C3, Clostridium botulinum	decreases reaction, increases activity	1
KT 5823	decreases reaction, increases phosphorylation, increases reaction, affects binding	1
Y 27632	affects cotreatment, decreases reaction, increases activity	1
2-methyl-1-((4-methyl-5-isoquinolinyl)sulfonyl)homopiperazine	affects cotreatment, decreases reaction, increases activity	1
jinfukang	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Atrazine	increases expression	1
Caffeine	affects phosphorylation	1
Cisplatin	affects cotreatment, decreases expression	1
Diazinon	increases methylation	1
Doxorubicin	increases expression	1
Hydrogen Peroxide	affects expression	1
Progesterone	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Testosterone	increases expression	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

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