VTA1

Summary

VTA1 (vesicle trafficking 1, HGNC:20954) is a protein-coding gene on chromosome 6q24.1-q24.2, encoding Vacuolar protein sorting-associated protein VTA1 homolog (Q9NP79). Involved in the endosomal multivesicular bodies (MVB) pathway.

C6ORF55 encodes a protein involved in trafficking of the multivesicular body, an endosomal compartment involved in sorting membrane proteins for degradation in lysosomes (Ward et al., 2005 [PubMed 15644320]).

Source: NCBI Gene 51534 — RefSeq curated summary.

At a glance

• GWAS associations: 14
• Clinical variants (ClinVar): 57 total — 1 likely-pathogenic
• MANE Select transcript: NM_016485

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20954
Approved symbol	VTA1
Name	vesicle trafficking 1
Location	6q24.1-q24.2
Locus type	gene with protein product
Status	Approved
Aliases	HSPC228, My012
Ensembl gene	ENSG00000009844
Ensembl biotype	protein_coding
OMIM	610902
Entrez	51534

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000367621, ENST00000367630, ENST00000452973, ENST00000491881, ENST00000620996, ENST00000890564, ENST00000890565, ENST00000934453

RefSeq mRNA: 3 — MANE Select: NM_016485 NM_001286371, NM_001286372, NM_016485

CCDS: CCDS5197, CCDS69214, CCDS75531

Canonical transcript exons

ENST00000367630 — 8 exons

Exon	Start	End
ENSE00000798977	142147263	142147399
ENSE00001177106	142169550	142169677
ENSE00001177110	142166228	142166322
ENSE00001356297	142198439	142198615
ENSE00001824756	142218498	142224685
ENSE00002466551	142203985	142204065
ENSE00003498542	142170346	142170421
ENSE00003548670	142189426	142189534

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 98.13.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 45.7942 / max 1661.9847, expressed in 1809 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
70174	41.7250	1808
70173	4.0693	1569

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	98.13	gold quality
ganglionic eminence	UBERON:0004023	97.61	gold quality
epithelial cell of pancreas	CL:0000083	96.48	gold quality
amniotic fluid	UBERON:0000173	96.14	gold quality
deltoid	UBERON:0001476	96.08	gold quality
ventricular zone	UBERON:0003053	95.97	gold quality
tibialis anterior	UBERON:0001385	95.79	gold quality
islet of Langerhans	UBERON:0000006	95.29	gold quality
vastus lateralis	UBERON:0001379	95.25	gold quality
upper arm skin	UBERON:0004263	95.22	gold quality
ileal mucosa	UBERON:0000331	94.86	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	94.77	gold quality
gingival epithelium	UBERON:0001949	94.72	gold quality
rectum	UBERON:0001052	94.32	gold quality
esophagus squamous epithelium	UBERON:0006920	94.31	gold quality
penis	UBERON:0000989	94.27	gold quality
left ventricle myocardium	UBERON:0006566	94.21	gold quality
endothelial cell	CL:0000115	94.19	gold quality
quadriceps femoris	UBERON:0001377	94.05	gold quality
oocyte	CL:0000023	94.01	gold quality
gingiva	UBERON:0001828	93.99	gold quality
skeletal muscle tissue	UBERON:0001134	93.92	gold quality
secondary oocyte	CL:0000655	93.83	gold quality
lateral nuclear group of thalamus	UBERON:0002736	93.83	gold quality
biceps brachii	UBERON:0001507	93.79	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	93.69	gold quality
jejunum	UBERON:0002115	93.62	gold quality
adrenal tissue	UBERON:0018303	93.54	gold quality
jejunal mucosa	UBERON:0000399	93.43	gold quality
muscle of leg	UBERON:0001383	93.43	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-7249	no	6701.90
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

105 targeting VTA1, 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-4533	100.00	69.48	2758
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-498-3P	99.91	71.27	1114
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-629-3P	99.85	67.99	1875

Literature-anchored findings (GeneRIF, showing 9)

• LIP5 protein expression in a mouse tissue panel and various rodent and human tissues were studied. (PMID:20358264)
• the tandem MIT domain of LIP5 binds different types of ESCRT-III proteins, promoting assembly of active VPS4 enzymes on the polymeric ESCRT-III substrate. (PMID:23105106)
• Vps4 stimulatory element of the cofactor Vta1 contacts the ATPase Vps4 alpha7 and alpha9 subunits to stimulate ATP hydrolysis. (PMID:25164817)
• ESCRT-III protein CHMP5 inhibits LIP5-mediated VPS4 activation by inducing a moderate conformational change within LIP5. (PMID:25637630)
• Crystal structures of three molecular complexes reveal that IST1 binds to the MIT domains of VPS4 and LIP5. (PMID:25657007)
• Data suggest that AQP2 binds LIP5 in a AQP2-phosphorylation-dependent manner; phospho-mimicking mutations and phosphorylation reduce thermal stability of AQP2; AQP2 phosphorylation allosterically controls its interaction with LIP5. [AQP2 = aquaporin 2; LIP5 = LYST-interacting protein 5; LYST = lysosomal trafficking regulator protein] (PMID:28710278)
• A structural model of the AQP2-LIP5 complex, giving the very first structural insight into how membrane proteins are recruited to multivesicular bodies inner vesicles. (PMID:31661793)
• High expression of VTA1 is an adverse prognostic factor in lung adenocarcinoma. (PMID:38372114)
• The human AAA-ATPase VPS4A isoform and its co-factor VTA1 have a unique function in regulating mammalian cytokinesis abscission. (PMID:38687820)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	vta1	ENSDARG00000013732
mus_musculus	Vta1	ENSMUSG00000019868
rattus_norvegicus	Vta1	ENSRNOG00000011540
drosophila_melanogaster	Vta1	FBGN0035251

Protein

Protein identifiers

Vacuolar protein sorting-associated protein VTA1 homolog — Q9NP79 (reviewed: Q9NP79)

Alternative names: Dopamine-responsive gene 1 protein, LYST-interacting protein 5, SKD1-binding protein 1

All UniProt accessions (3): Q9NP79, A0A087WY55, Q5TGM0

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the endosomal multivesicular bodies (MVB) pathway. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. Thought to be a cofactor of VPS4A/B, which catalyzes disassembles membrane-associated ESCRT-III assemblies. Involved in the sorting and down-regulation of EGFR. Involved in HIV-1 budding.

Subunit / interactions. Interacts with VPS4B. Interacts with CHMP1B. Interacts with CHMP2A; the interaction probably involves the open conformation of (polymerized) CHMP2A. Interacts with CHMP3. Interacts with CHMP5; the interaction involves soluble CHMP5. Interacts with IST1.

Subcellular location. Cytoplasm. Endosome membrane.

Similarity. Belongs to the VTA1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NP79-1	1	yes
Q9NP79-2	2

RefSeq proteins (3): NP_001273300, NP_001273301, NP_057569* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR023175	Vta1/CALS_N_sf	Homologous_superfamily
IPR039431	Vta1/CALS_N	Domain
IPR041212	Vta1_C	Domain
IPR044538	Vta1-like	Family

Pfam: PF04652, PF18097

UniProt features (28 total): helix 10, sequence conflict 4, region of interest 4, turn 2, splice variant 2, initiator methionine 1, chain 1, sequence variant 1, strand 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
4TXR	X-RAY DIFFRACTION	1
4U7E	X-RAY DIFFRACTION	1.6
4TXQ	X-RAY DIFFRACTION	2.21
4TXP	X-RAY DIFFRACTION	3.01
2LXL	SOLUTION NMR
2LXM	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NP79-F1	79.63	0.66

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 (1): 2

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-162588	Budding and maturation of HIV virion
R-HSA-917729	Endosomal Sorting Complex Required For Transport (ESCRT)

MSigDB gene sets: 156 (showing top): WENDT_COHESIN_TARGETS_UP, REACTOME_ENDOSOMAL_SORTING_COMPLEX_REQUIRED_FOR_TRANSPORT_ESCRT, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_ENDOSOME_ORGANIZATION, GOBP_VESICLE_ORGANIZATION, GOBP_VACUOLAR_TRANSPORT, TGACCTY_ERR1_Q2, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_MACROAUTOPHAGY, REACTOME_HIV_INFECTION, GGAANCGGAANY_UNKNOWN, GOBP_MULTIVESICULAR_BODY_ORGANIZATION, HNF4_DR1_Q3, GOBP_MULTIVESICULAR_BODY_SORTING_PATHWAY

GO Biological Process (6): protein transport (GO:0015031), macroautophagy (GO:0016236), late endosome to vacuole transport via multivesicular body sorting pathway (GO:0032511), multivesicular body assembly (GO:0036258), multivesicular body sorting pathway (GO:0071985), ESCRT III complex disassembly (GO:1904903)

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

GO Cellular Component (8): nucleoplasm (GO:0005654), multivesicular body (GO:0005771), cytosol (GO:0005829), endosome membrane (GO:0010008), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), endosome (GO:0005768), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Late Phase of HIV Life Cycle	1
Membrane Trafficking	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
transport	1
intracellular protein localization	1
establishment of protein localization	1
autophagosome assembly	1
autophagy	1
endosome transport via multivesicular body sorting pathway	1
late endosome to vacuole transport	1
multivesicular body organization	1
organelle assembly	1
vesicle-mediated transport	1
ESCRT complex disassembly	1
binding	1
nuclear lumen	1
late endosome	1
cytoplasm	1
endosome	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1
extracellular vesicle	1
intracellular anatomical structure	1
endomembrane system	1
cytoplasmic vesicle	1

Protein interactions and networks

STRING

1011 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
VTA1	CHMP5	Q9NZZ3	998
VTA1	VPS4B	O75351	994
VTA1	VPS4A	Q9UN37	994
VTA1	LYST	Q99698	933
VTA1	CHMP1A	Q9HD42	904
VTA1	IST1	P53990	878
VTA1	CHMP2A	O43633	860
VTA1	TSG101	Q99816	829
VTA1	CHMP6	Q96FZ7	811
VTA1	CHMP3	Q9Y3E7	809
VTA1	A0A140T963	A0A140T963	807
VTA1	PDCD6IP	Q8WUM4	796
VTA1	CHMP1B	Q7LBR1	735
VTA1	VPS25	Q9BRG1	732
VTA1	VPS36	Q86VN1	725

IntAct

106 interactions, top by confidence:

A	B	Type	Score
CHMP1B	VTA1	psi-mi:“MI:0915”(physical association)	0.740
CHMP1A	VTA1	psi-mi:“MI:0915”(physical association)	0.680
ZBTB16	VTA1	psi-mi:“MI:0915”(physical association)	0.670
TEAD4	VTA1	psi-mi:“MI:0915”(physical association)	0.670
VTA1	CHMP5	psi-mi:“MI:0915”(physical association)	0.660
CCNC	VTA1	psi-mi:“MI:0915”(physical association)	0.560
VTA1	CBS	psi-mi:“MI:0915”(physical association)	0.550
CBS	VTA1	psi-mi:“MI:0915”(physical association)	0.550
VPS4B	BIRC2	psi-mi:“MI:0914”(association)	0.530
FSD1	UBFD1	psi-mi:“MI:0914”(association)	0.530
VPS4A	VPS4B	psi-mi:“MI:0914”(association)	0.530
CHMP2A	DECR1	psi-mi:“MI:0914”(association)	0.530
CHMP5	TCP10L	psi-mi:“MI:0914”(association)	0.530
CHMP1B	IST1	psi-mi:“MI:0914”(association)	0.530
CHMP5	SH3KBP1	psi-mi:“MI:0914”(association)	0.530
VTA1	CHMP2A	psi-mi:“MI:0914”(association)	0.530
VPS4A	IST1	psi-mi:“MI:0914”(association)	0.530
	MYL12B	psi-mi:“MI:0914”(association)	0.460
GSK3A	VTA1	psi-mi:“MI:0915”(physical association)	0.400
VTA1	GSK3B	psi-mi:“MI:0915”(physical association)	0.400
CHMP2B	VTA1	psi-mi:“MI:0915”(physical association)	0.400
ZNF215	VTA1	psi-mi:“MI:0915”(physical association)	0.400
	AGPS	psi-mi:“MI:0915”(physical association)	0.400
	TK2	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (183): VTA1 (Affinity Capture-MS), VTA1 (Affinity Capture-MS), VTA1 (Affinity Capture-MS), VTA1 (Two-hybrid), VTA1 (Affinity Capture-MS), VTA1 (Two-hybrid), VTA1 (Two-hybrid), VTA1 (Two-hybrid), KCTD13 (Two-hybrid), NECAB2 (Two-hybrid), VTA1 (Two-hybrid), VTA1 (Two-hybrid), MBIP (Two-hybrid), KLHL12 (Two-hybrid), VTA1 (Two-hybrid)

ESM2 similar proteins: A5D989, F1M3L7, O14964, O75061, O76337, O94264, P29692, P53990, P55010, P57776, P59325, P97496, Q07205, Q08509, Q0CJV3, Q0V8S0, Q12929, Q13492, Q27974, Q32L63, Q3B7L8, Q3ZBV1, Q4R3D4, Q4V7D7, Q568Z6, Q5AX35, Q5R4H4, Q5R4L0, Q5R5W5, Q5R6G8, Q5RAY5, Q5ZM16, Q68FR9, Q6NQK0, Q6NZC7, Q6NZZ9, Q6P616, Q6PDG5, Q7M6Y3, Q7ZXB5

Diamond homologs: Q32L63, Q55B11, Q5R5W5, Q9CR26, Q9NP79, Q9SZ15, Q3B724

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 87 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
Budding and maturation of HIV virion	6	40.1×	2e-06
Endosomal Sorting Complex Required For Transport (ESCRT)	6	36.2×	2e-06
Sealing of the nuclear envelope (NE) by ESCRT-III	5	28.4×	1e-04

GO biological processes:

GO term	Partners	Fold	FDR
nuclear membrane reassembly	8	100.4×	2e-12
viral budding via host ESCRT complex	8	81.3×	6e-12
midbody abscission	8	74.2×	1e-11
multivesicular body sorting pathway	7	71.1×	4e-10
late endosome to lysosome transport	5	62.7×	5e-07
multivesicular body assembly	9	60.0×	5e-12
regulation of centrosome duplication	6	55.6×	5e-08
regulation of mitotic spindle assembly	6	55.6×	5e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	45
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3064210	NM_016485.5(VTA1):c.52C>T (p.Gln18Ter)	Likely pathogenic

SpliceAI

1474 predictions. Top by Δscore:

Variant	Effect	Δscore
6:142147400:G:GG	donor_gain	1.0000
6:142166223:TCTA:T	acceptor_loss	1.0000
6:142166224:CTA:C	acceptor_loss	1.0000
6:142166225:TA:T	acceptor_loss	1.0000
6:142166226:A:AG	acceptor_gain	1.0000
6:142166226:A:C	acceptor_loss	1.0000
6:142166226:AG:A	acceptor_gain	1.0000
6:142166227:G:GA	acceptor_gain	1.0000
6:142166227:GG:G	acceptor_gain	1.0000
6:142166227:GGT:G	acceptor_gain	1.0000
6:142166227:GGTC:G	acceptor_gain	1.0000
6:142166318:AAGCT:A	donor_gain	1.0000
6:142166319:AGCT:A	donor_gain	1.0000
6:142166320:GCT:G	donor_gain	1.0000
6:142166320:GCTG:G	donor_gain	1.0000
6:142166321:CT:C	donor_gain	1.0000
6:142166322:TG:T	donor_loss	1.0000
6:142166323:G:GA	donor_loss	1.0000
6:142166323:G:GG	donor_gain	1.0000
6:142166324:T:G	donor_loss	1.0000
6:142166328:T:G	donor_gain	1.0000
6:142169543:A:AG	acceptor_gain	1.0000
6:142169545:TTTA:T	acceptor_loss	1.0000
6:142169548:A:AG	acceptor_gain	1.0000
6:142169549:G:GT	acceptor_gain	1.0000
6:142169549:GC:G	acceptor_gain	1.0000
6:142169549:GCT:G	acceptor_gain	1.0000
6:142169549:GCTA:G	acceptor_gain	1.0000
6:142169549:GCTAA:G	acceptor_gain	1.0000
6:142169673:CACAA:C	donor_gain	1.0000

AlphaMissense

2015 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:142166251:G:A	G46R	1.000
6:142166251:G:C	G46R	1.000
6:142166252:G:A	G46E	1.000
6:142169598:G:C	G86R	1.000
6:142169599:G:A	G86D	1.000
6:142169635:T:C	F98S	1.000
6:142169643:G:C	A101P	1.000
6:142169644:C:A	A101E	1.000
6:142169655:G:C	D105H	1.000
6:142169656:A:C	D105A	1.000
6:142169659:G:C	R106P	1.000
6:142170371:G:C	A121P	1.000
6:142189444:T:C	Y144H	1.000
6:142189445:A:G	Y144C	1.000
6:142189447:G:C	A145P	1.000
6:142189448:C:A	A145D	1.000
6:142189453:T:A	W147R	1.000
6:142189453:T:C	W147R	1.000
6:142189455:G:C	W147C	1.000
6:142189455:G:T	W147C	1.000
6:142189456:A:G	K148E	1.000
6:142189458:G:C	K148N	1.000
6:142189458:G:T	K148N	1.000
6:142189459:G:C	A149P	1.000
6:142189460:C:A	A149E	1.000
6:142189499:C:A	P162H	1.000
6:142218533:G:C	A272P	1.000
6:142218534:C:A	A272D	1.000
6:142218555:C:A	A279D	1.000
6:142218560:A:C	S281R	1.000

dbSNP variants (sampled 300 via entrez): RS1000025043 (6:142220841 C>A), RS1000110062 (6:142191349 T>C), RS1000249049 (6:142173711 T>TC), RS1000281795 (6:142178703 C>A), RS1000288895 (6:142173433 G>A,C), RS1000307878 (6:142214935 C>G), RS1000338501 (6:142185689 G>T), RS1000354368 (6:142220799 T>C), RS1000443711 (6:142209235 A>G), RS1000454037 (6:142167939 A>G), RS1000458128 (6:142197782 A>G), RS1000549638 (6:142155747 C>A,G), RS1000568979 (6:142215037 CTG>C), RS1000576358 (6:142162453 A>G), RS1000643499 (6:142216085 C>T)

Disease associations

OMIM: gene MIM:610902 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

14 associations (top):

Study	Trait	p-value
GCST000847_2	Retinal vascular caliber	1.000000e-16
GCST005175_50	Coronary artery calcified atherosclerotic plaque (90 or 130 HU threshold) in type 2 diabetes	6.000000e-06
GCST007429_42	Lung function (FVC)	3.000000e-09
GCST007430_38	Peak expiratory flow	6.000000e-21
GCST007431_3	Lung function (FEV1/FVC)	2.000000e-32
GCST007432_76	FEV1	1.000000e-26
GCST007692_24	Chronic obstructive pulmonary disease	2.000000e-11
GCST008163_369	Height	4.000000e-09
GCST010511_1	Response to radiotherapy in nasopharyngeal carcinoma (acute oral mucositis)	3.000000e-06
GCST011946_22	White matter hyperintensity volume	3.000000e-06
GCST011947_31	White matter hyperintensity volume	3.000000e-06
GCST011949_38	White matter hyperintensity volume (adjusted for hypertension)	2.000000e-06
GCST011950_31	White matter hyperintensity volume (adjusted for hypertension)	2.000000e-06
GCST90020028_228	Hip circumference adjusted for BMI	8.000000e-09

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004731	eye measurement
EFO:0004723	coronary artery calcification
EFO:0004312	vital capacity
EFO:0009718	peak expiratory flow
EFO:0004713	FEV/FVC ratio
EFO:0004314	forced expiratory volume
EFO:1001904	oral mucositis
EFO:0005665	white matter hyperintensity measurement
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, decreases methylation, decreases expression, increases expression	3
bisphenol F	increases expression, affects cotreatment, decreases expression	2
Air Pollutants	decreases expression, increases abundance, increases expression	2
dicrotophos	decreases expression	1
uranyl acetate	affects expression	1
decabromobiphenyl ether	decreases expression	1
arsenite	affects binding, increases reaction	1
sodium arsenite	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
cylindrospermopsin	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
bisphenol S	increases expression	1
jinfukang	decreases expression	1
Temozolomide	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Arsenic	decreases expression	1
Atrazine	decreases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Endosulfan	decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Ivermectin	decreases expression	1
Ribonucleotides	affects binding	1
Smoke	increases abundance, increases expression	1
Sodium Dodecyl Sulfate	decreases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	affects expression	1
Uranium	affects expression	1
Zinc	decreases expression	1

Clinical trials (associated diseases)

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