VEZT

Summary

VEZT (vezatin, adherens junctions transmembrane protein, HGNC:18258) is a protein-coding gene on chromosome 12q22, encoding Vezatin (Q9HBM0). Plays a pivotal role in the establishment of adherens junctions and their maintenance in adult life. It is a selective cancer dependency (DepMap: 35.5% of cell lines).

This gene encodes a transmembrane protein which has been localized to adherens junctions and shown to bind to myosin VIIA. Examination of expression of this gene in gastric cancer tissues have shown that expression is decreased which appears to be related to hypermethylation of the promoter. Expression of this gene may also be inhibited by binding of a specific microRNA to a target sequence in the 3’ UTR of the transcripts. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 55591 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 112 total
• Cancer dependency (DepMap): dependent in 35.5% of screened cell lines
• MANE Select transcript: NM_017599

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18258
Approved symbol	VEZT
Name	vezatin, adherens junctions transmembrane protein
Location	12q22
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP761C241
Ensembl gene	ENSG00000028203
Ensembl biotype	protein_coding
OMIM	619749
Entrez	55591

Gene structure

Transcript identifiers

Ensembl transcripts: 50 — 17 protein_coding, 16 protein_coding_CDS_not_defined, 14 nonsense_mediated_decay, 3 retained_intron

ENST00000356859, ENST00000397792, ENST00000436874, ENST00000546365, ENST00000546398, ENST00000546409, ENST00000546445, ENST00000546557, ENST00000546951, ENST00000547484, ENST00000547611, ENST00000547894, ENST00000547997, ENST00000548245, ENST00000548371, ENST00000548455, ENST00000548822, ENST00000548838, ENST00000549002, ENST00000549192, ENST00000549589, ENST00000549624, ENST00000550106, ENST00000550803, ENST00000551039, ENST00000551311, ENST00000551356, ENST00000551472, ENST00000551695, ENST00000551746, ENST00000551792, ENST00000551902, ENST00000551994, ENST00000552031, ENST00000552306, ENST00000552626, ENST00000552660, ENST00000552821, ENST00000552827, ENST00000553063, ENST00000851270, ENST00000851271, ENST00000851272, ENST00000918113, ENST00000918114, ENST00000918115, ENST00000943053, ENST00000943054, ENST00000943055, ENST00000943056

RefSeq mRNA: 33 — MANE Select: NM_017599 NM_001352088, NM_001352089, NM_001352090, NM_001352091, NM_001352092, NM_001352093, NM_001352094, NM_001352095, NM_001352096, NM_001352097, NM_001352098, NM_001352099, NM_001352100, NM_001352101, NM_001352102, NM_001352103, NM_001352104, NM_001352105, NM_001352106, NM_001352107, NM_001352108, NM_001352109, NM_001352110, NM_001352111, NM_001352112, NM_001352113, NM_001352114, NM_001352115, NM_001352116, NM_001352117, NM_001352118, NM_001352119, NM_017599

CCDS: CCDS44954

Canonical transcript exons

ENST00000436874 — 12 exons

Exon	Start	End
ENSE00001784975	95300165	95302799
ENSE00003465917	95270051	95270188
ENSE00003504053	95287664	95287857
ENSE00003510068	95294272	95294372
ENSE00003541545	95282313	95282644
ENSE00003554096	95257150	95257239
ENSE00003570268	95274742	95274889
ENSE00003597620	95262906	95263081
ENSE00003652184	95251940	95252071
ENSE00003681444	95266357	95266632
ENSE00003683056	95296051	95296258
ENSE00003842025	95217807	95217886

Expression profiles

Bgee: expression breadth ubiquitous, 274 present calls, max score 97.73.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.3077 / max 574.1446, expressed in 1796 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
127431	29.1142	1790
127429	1.7136	1089
127432	1.0040	645
127430	0.7192	459
127433	0.5473	236
127434	0.2093	87

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	97.73	gold quality
cortical plate	UBERON:0005343	96.07	gold quality
calcaneal tendon	UBERON:0003701	95.91	gold quality
biceps brachii	UBERON:0001507	95.80	gold quality
visceral pleura	UBERON:0002401	95.71	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	94.97	gold quality
buccal mucosa cell	CL:0002336	94.77	gold quality
ganglionic eminence	UBERON:0004023	94.76	gold quality
parietal pleura	UBERON:0002400	94.64	gold quality
colonic epithelium	UBERON:0000397	94.22	gold quality
gastrocnemius	UBERON:0001388	94.10	gold quality
muscle of leg	UBERON:0001383	93.87	gold quality
hindlimb stylopod muscle	UBERON:0004252	93.78	gold quality
right adrenal gland cortex	UBERON:0035827	93.75	gold quality
left lobe of thyroid gland	UBERON:0001120	93.65	gold quality
endometrium	UBERON:0001295	93.60	gold quality
thyroid gland	UBERON:0002046	93.58	gold quality
tibia	UBERON:0000979	93.56	gold quality
gall bladder	UBERON:0002110	93.56	gold quality
descending thoracic aorta	UBERON:0002345	93.43	gold quality
ventricular zone	UBERON:0003053	93.41	gold quality
gingival epithelium	UBERON:0001949	93.29	gold quality
germinal epithelium of ovary	UBERON:0001304	93.22	gold quality
adrenal gland	UBERON:0002369	93.19	gold quality
right adrenal gland	UBERON:0001233	93.17	gold quality
pleura	UBERON:0000977	93.16	gold quality
right lobe of thyroid gland	UBERON:0001119	93.08	gold quality
islet of Langerhans	UBERON:0000006	93.06	gold quality
rectum	UBERON:0001052	93.06	gold quality
left adrenal gland	UBERON:0001234	93.06	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	11.23

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

120 targeting VEZT, 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-8485	100.00	77.57	4731
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-95-5P	99.89	72.17	3973

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 35.5% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 8)

• function of mouse vezatin in mouse blastocyst morphogenesis (PMID:16199027)
• miR-43c directly targets adherens junctions’ transmembrane protein (VEZT) and suppresses VEZT protein expression. (PMID:21156161)
• VEZT, a novel putative tumor suppressor, suppresses the growth and tumorigenicity of gastric cancer. (PMID:24069310)
• vezatin and nearby SNP rs10859871 may have a role in endometriosis [meta-analysis] (PMID:25678572)
• VEZT expression levels can be considered as a biomarker for gastric cancer progression, lymphatic metastasis and as a novel independent prognostic factor. (PMID:25792470)
• This study identified the most effective small activating RNA via real-time PCR and Western blot. The selected small activating RNA inhibited the growth, invasion and migration of gastric cancer cells by specially reactivating VEZT. (PMID:27856244)
• We found a genetic association between rs11031006 (FSHB) SNP and endometriosis. WNT4 and VEZT genes constitute the most consistently associated genes with endometriosis. In the present study, an association of rs7521902 (WNT4) and rs10859871 (VEZT) was confirmed in women with endometriosis at the genotypic but not the allelic level. (PMID:28901453)
• Vezatin regulates seizures by controlling AMPAR-mediated synaptic activity. (PMID:34642320)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	vezt	ENSDARG00000075215
mus_musculus	Vezt	ENSMUSG00000036099
rattus_norvegicus	Vezt	ENSRNOG00000006514

Protein

Protein identifiers

Vezatin — Q9HBM0 (reviewed: Q9HBM0)

All UniProt accessions (12): Q9HBM0, F8VPN9, F8VRY3, F8VS43, F8VUB7, F8VUG0, F8VVS3, F8VXA0, F8W048, F8W088, F8W0S0, F8W8C2

UniProt curated annotations — full annotation on UniProt →

Function. Plays a pivotal role in the establishment of adherens junctions and their maintenance in adult life. Required for morphogenesis of the preimplantation embryo, and for the implantation process. (Microbial infection) In case of Listeria infection, promotes bacterial internalization by participating in myosin VIIa recruitment to the entry site.

Subunit / interactions. Interacts with USH2A (via the cytoplasmic region); the interaction associates VEZT with the USH2 complex at the stereocilia base. Interacts with myosin MYO7A and the cadherin-catenins complex.

Subcellular location. Cell membrane. Cell projection. Stereocilium membrane. Cell junction. Adherens junction. Nucleus. Cytoplasmic vesicle. Secretory vesicle. Acrosome.

Miscellaneous. Due to intron retention. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the vezatin family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9HBM0-1	1	yes
Q9HBM0-2	2
Q9HBM0-5	5
Q9HBM0-6	6

RefSeq proteins (33): NP_001339017, NP_001339018, NP_001339019, NP_001339020, NP_001339021, NP_001339022, NP_001339023, NP_001339024, NP_001339025, NP_001339026, NP_001339027, NP_001339028, NP_001339029, NP_001339030, NP_001339031, NP_001339032, NP_001339033, NP_001339034, NP_001339035, NP_001339036, NP_001339037, NP_001339038, NP_001339039, NP_001339040, NP_001339041, NP_001339042, NP_001339043, NP_001339044, NP_001339045, NP_001339046, NP_001339047, NP_001339048, NP_060069* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026858	Vezatin	Family
IPR026859	Myosin-bd	Domain

Pfam: PF12632

UniProt features (29 total): splice variant 8, sequence conflict 6, sequence variant 5, compositionally biased region 4, transmembrane region 2, region of interest 2, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HBM0-F1	66.08	0.19

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 145 (showing top): GCM_GSPT1, GOCC_SECRETORY_GRANULE, ACTGCAG_MIR173P, ATGTTAA_MIR302C, GOBP_CELL_CELL_ADHESION, FOSTER_TOLERANT_MACROPHAGE_UP, GTGTTGA_MIR505, MODULE_206, DOUGLAS_BMI1_TARGETS_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GCM_NF2, GOCC_NEURON_PROJECTION, GOCC_CELL_CELL_JUNCTION, chr12q22, SENESE_HDAC3_TARGETS_DN

GO Biological Process (1): cell-cell adhesion (GO:0098609)

GO Molecular Function (1): myosin binding (GO:0017022)

GO Cellular Component (12): acrosomal vesicle (GO:0001669), stereocilia ankle link complex (GO:0002142), nucleoplasm (GO:0005654), cytosol (GO:0005829), plasma membrane (GO:0005886), adherens junction (GO:0005912), stereocilium membrane (GO:0060171), nucleus (GO:0005634), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), cell projection (GO:0042995), anchoring junction (GO:0070161)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cytoplasm	2
cell adhesion	1
cytoskeletal protein binding	1
secretory granule	1
stereocilia ankle link	1
protein-containing complex	1
nuclear lumen	1
membrane	1
cell periphery	1
cell-cell junction	1
stereocilium	1
neuron projection membrane	1
intracellular membrane-bounded organelle	1
intracellular vesicle	1
cell junction	1

Protein interactions and networks

STRING

3988 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
VEZT	MYO7A	P78427	913
VEZT	WHRN	Q9P202	683
VEZT	CTNNB1	P35222	671
VEZT	USH2A	O75445	658
VEZT	ADGRV1	Q8WXG9	649
VEZT	E9PNW1	E9PNW1	645
VEZT	PDZD7	Q9H5P4	623
VEZT	CDH17	Q12864	579
VEZT	LIN7A	O14910	572
VEZT	PCDH1	Q08174	563
VEZT	CDH5	P33151	535
VEZT	TJP1	Q07157	530
VEZT	CLDN4	O14493	526
VEZT	CDH6	P55285	525
VEZT	CDH1	P12830	516
VEZT	CTNNA1	P35221	516

IntAct

87 interactions, top by confidence:

A	B	Type	Score
ODAD1	HGS	psi-mi:“MI:0914”(association)	0.850
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
IGF1R	PIK3R2	psi-mi:“MI:2364”(proximity)	0.590
INSR	PIK3R2	psi-mi:“MI:2364”(proximity)	0.570
CXCR4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
GPR21	TMEM120B	psi-mi:“MI:0914”(association)	0.530
C3AR1	TMEM120B	psi-mi:“MI:0914”(association)	0.530
TMED6	SMPD2	psi-mi:“MI:0914”(association)	0.530
SIGMAR1	NPC1	psi-mi:“MI:0914”(association)	0.530
SLC15A4	PGRMC1	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
E5	ESYT2	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
	NBAS	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
ANKRD46	NBAS	psi-mi:“MI:0914”(association)	0.350
MAPRE1	SCAMP1	psi-mi:“MI:0914”(association)	0.350
CMTM5	TMEM120B	psi-mi:“MI:0914”(association)	0.350
GPR17	TMEM120B	psi-mi:“MI:0914”(association)	0.350
GPRC5D	FAM234B	psi-mi:“MI:0914”(association)	0.350
C11orf87	KLRG2	psi-mi:“MI:0914”(association)	0.350
TSPAN10	KLRG2	psi-mi:“MI:0914”(association)	0.350
CCL3	KRBA1	psi-mi:“MI:0914”(association)	0.350
KLRC1	METTL15	psi-mi:“MI:0914”(association)	0.350
DLK2	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
VIPR2	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
OR6T1	PSMD11	psi-mi:“MI:0914”(association)	0.350
CHRM4	TNPO2	psi-mi:“MI:0914”(association)	0.350

BioGRID (248): VEZT (Affinity Capture-MS), VEZT (Proximity Label-MS), VEZT (Proximity Label-MS), VEZT (Proximity Label-MS), VEZT (Proximity Label-MS), VEZT (Proximity Label-MS), VEZT (Affinity Capture-MS), VEZT (Two-hybrid), VEZT (Proximity Label-MS), VEZT (Proximity Label-MS), VEZT (Affinity Capture-MS), VEZT (Affinity Capture-MS), VEZT (Affinity Capture-MS), VEZT (Affinity Capture-MS), VEZT (Affinity Capture-MS)

ESM2 similar proteins: A4IFQ0, A6QQW8, P48553, Q08BT5, Q0VA03, Q13769, Q14161, Q1A730, Q1RMS8, Q2KHT6, Q3B7L5, Q3T0J1, Q3TLI0, Q4R372, Q5M7Q1, Q5RAQ5, Q5REX9, Q5RFL7, Q5ZJK1, Q5ZML0, Q62784, Q641X7, Q66H91, Q68FX7, Q6P7Q1, Q6SP92, Q6ZPY2, Q76JQ2, Q8BIK4, Q8BKT7, Q8BXK4, Q8IWV8, Q8K3W0, Q8NFG4, Q8QZS3, Q8TCJ0, Q8WN69, Q8WN70, Q91W96, Q91Z62

Diamond homologs: Q28C41, Q3ZK22, Q5RFL7, Q5XI52, Q6PCG6, Q9HBM0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 120 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
R-HSA-425393	7	11.5×	2e-04
SLC-mediated transmembrane transport	11	8.2×	2e-05
Constitutive Signaling by Aberrant PI3K in Cancer	5	8.0×	5e-03
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	6	7.3×	3e-03
RAF/MAP kinase cascade	7	5.4×	5e-03
Transport of small molecules	12	3.8×	2e-03
Neutrophil degranulation	11	3.2×	7e-03

GO biological processes:

GO term	Partners	Fold	FDR
transmembrane transport	9	14.9×	7e-06
insulin receptor signaling pathway	5	10.9×	8e-03
monoatomic ion transport	6	9.2×	5e-03
MAPK cascade	6	9.0×	5e-03
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	9	6.9×	1e-03
positive regulation of MAPK cascade	8	6.3×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	90
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3468 predictions. Top by Δscore:

Variant	Effect	Δscore
12:95217887:GTAAG:G	donor_loss	1.0000
12:95251936:TCAGA:T	acceptor_loss	1.0000
12:95251937:CAGA:C	acceptor_loss	1.0000
12:95251938:A:AG	acceptor_gain	1.0000
12:95251938:A:AT	acceptor_loss	1.0000
12:95251939:G:GA	acceptor_gain	1.0000
12:95251939:G:GT	acceptor_loss	1.0000
12:95251939:GA:G	acceptor_gain	1.0000
12:95251939:GAA:G	acceptor_gain	1.0000
12:95251939:GAATT:G	acceptor_gain	1.0000
12:95252072:G:GG	donor_gain	1.0000
12:95262897:A:AG	acceptor_gain	1.0000
12:95263032:G:GT	donor_gain	1.0000
12:95263033:A:T	donor_gain	1.0000
12:95266353:CCAG:C	acceptor_loss	1.0000
12:95266354:CA:C	acceptor_loss	1.0000
12:95266355:A:AG	acceptor_gain	1.0000
12:95266355:AG:A	acceptor_gain	1.0000
12:95266355:AGG:A	acceptor_gain	1.0000
12:95266356:G:GG	acceptor_gain	1.0000
12:95266356:GG:G	acceptor_gain	1.0000
12:95266356:GGG:G	acceptor_gain	1.0000
12:95266356:GGGAT:G	acceptor_gain	1.0000
12:95266629:CACTG:C	donor_loss	1.0000
12:95266630:ACTG:A	donor_loss	1.0000
12:95266631:CT:C	donor_gain	1.0000
12:95266631:CTGTG:C	donor_loss	1.0000
12:95266633:G:GG	donor_gain	1.0000
12:95266634:T:A	donor_loss	1.0000
12:95287656:T:G	acceptor_gain	1.0000

AlphaMissense

5101 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:95296184:T:C	L586S	1.000
12:95282626:T:C	L437P	0.999
12:95266625:T:C	F235L	0.998
12:95266627:T:A	F235L	0.998
12:95266627:T:G	F235L	0.998
12:95251962:T:C	L20S	0.997
12:95282620:T:C	L435P	0.997
12:95287788:A:C	S485R	0.997
12:95287790:C:A	S485R	0.997
12:95287790:C:G	S485R	0.997
12:95282326:T:C	L337P	0.996
12:95282638:T:C	L441P	0.996
12:95274889:G:C	K332N	0.995
12:95274889:G:T	K332N	0.995
12:95282610:A:C	S432R	0.995
12:95282612:C:A	S432R	0.995
12:95282612:C:G	S432R	0.995
12:95287809:G:C	A492P	0.995
12:95296175:T:C	L583P	0.995
12:95251950:T:A	L16H	0.994
12:95262969:G:C	D108H	0.994
12:95266626:T:C	F235S	0.994
12:95282359:G:C	R348P	0.994
12:95282491:T:C	L392P	0.994
12:95296193:T:A	V589E	0.994
12:95266579:A:C	R219S	0.993
12:95266579:A:T	R219S	0.993
12:95266590:G:C	R223P	0.993
12:95266593:T:C	L224P	0.993
12:95266623:G:A	G234E	0.993

dbSNP variants (sampled 300 via entrez): RS1000050703 (12:95223486 T>C), RS1000067534 (12:95216486 G>A), RS1000094347 (12:95281080 G>A), RS1000098318 (12:95216196 A>G), RS1000106091 (12:95221618 A>T), RS1000175757 (12:95261035 A>G), RS1000251513 (12:95238941 G>A), RS1000287132 (12:95253585 A>G), RS1000301748 (12:95295813 G>A), RS1000307311 (12:95294670 A>G), RS1000315505 (12:95302781 T>C), RS1000339220 (12:95303099 T>C), RS1000355463 (12:95245940 T>C), RS1000393040 (12:95302908 A>T), RS1000405040 (12:95303158 C>T)

Disease associations

OMIM: gene MIM:619749 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST001720_7	Endometriosis	5.000000e-13
GCST001894_13	Endometriosis	2.000000e-06
GCST004549_19	Endometriosis	2.000000e-09
GCST004549_7	Endometriosis	1.000000e-06
GCST004549_9	Endometriosis	4.000000e-06
GCST005024_103	Pursuit maintenance gain	6.000000e-06
GCST010703_206	Brain morphology (MOSTest)	1.000000e-11

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0008433	pursuit maintenance gain measurement
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, affects cotreatment, increases expression, affects expression, decreases expression	4
Valproic Acid	affects expression, increases expression, increases methylation	4
trichostatin A	affects cotreatment, decreases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression, increases expression	2
Cyclosporine	increases expression	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	decreases expression, increases expression	1
coumarin	decreases phosphorylation	1
2-palmitoylglycerol	increases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
Bortezomib	increases expression	1
Resveratrol	increases expression, affects cotreatment	1
Temozolomide	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects expression, increases abundance, affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Formaldehyde	decreases expression	1
Methylcholanthrene	affects binding, increases reaction	1
Plant Extracts	affects cotreatment, increases expression	1
Rotenone	increases expression	1
Tetrachlorodibenzodioxin	decreases expression	1
Vitamin E	decreases expression	1
Aflatoxin B1	increases methylation	1
Asbestos, Serpentine	decreases methylation	1
Antirheumatic Agents	increases expression	1

Clinical trials (associated diseases)

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