ATP6V1G2

Summary

ATP6V1G2 (ATPase H+ transporting V1 subunit G2, HGNC:862) is a protein-coding gene on chromosome 6p21.33, encoding V-type proton ATPase subunit G 2 (O95670). Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons.

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c’, c’’, and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of three V1 domain G subunit proteins. This gene had previous gene symbols of ATP6G and ATP6G2. Alternatively spliced transcript variants encoding different isoforms have been described. Read-through transcription also exists between this gene and the downstream DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B) gene.

Source: NCBI Gene 534 — RefSeq curated summary.

At a glance

• GWAS associations: 23
• Clinical variants (ClinVar): 15 total
• MANE Select transcript: NM_130463

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:862
Approved symbol	ATP6V1G2
Name	ATPase H+ transporting V1 subunit G2
Location	6p21.33
Locus type	gene with protein product
Status	Approved
Aliases	Vma10, NG38, Em:AC004181.3
Ensembl gene	ENSG00000213760
Ensembl biotype	protein_coding
OMIM	606853
Entrez	534

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000303892, ENST00000376151, ENST00000415099, ENST00000481998, ENST00000483170, ENST00000483251

RefSeq mRNA: 3 — MANE Select: NM_130463 NM_001204078, NM_130463, NM_138282

CCDS: CCDS4698, CCDS4699, CCDS56413

Canonical transcript exons

ENST00000303892 — 3 exons

Exon	Start	End
ENSE00001777699	31544444	31545581
ENSE00001875039	31546478	31546608
ENSE00003599414	31546109	31546209

Expression profiles

Bgee: expression breadth ubiquitous, 136 present calls, max score 99.65.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.7521 / max 108.5483, expressed in 133 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
72701	15.2291	893
203944	0.4144	102
72703	0.1266	42
72702	0.1112	57
72700	0.0999	38

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellum	UBERON:0002037	99.65	gold quality
cerebellar cortex	UBERON:0002129	99.65	gold quality
cerebellar hemisphere	UBERON:0002245	99.65	gold quality
right hemisphere of cerebellum	UBERON:0014890	99.57	gold quality
superior frontal gyrus	UBERON:0002661	99.48	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	99.23	gold quality
Brodmann (1909) area 9	UBERON:0013540	99.21	gold quality
primary visual cortex	UBERON:0002436	99.16	gold quality
right frontal lobe	UBERON:0002810	99.01	gold quality
Ammon’s horn	UBERON:0001954	98.90	gold quality
anterior cingulate cortex	UBERON:0009835	98.86	gold quality
temporal lobe	UBERON:0001871	98.85	gold quality
amygdala	UBERON:0001876	98.85	gold quality
hypothalamus	UBERON:0001898	98.61	gold quality
substantia nigra	UBERON:0002038	98.27	gold quality
nucleus accumbens	UBERON:0001882	98.24	gold quality
putamen	UBERON:0001874	97.92	gold quality
caudate nucleus	UBERON:0001873	97.77	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	97.71	gold quality
cortical plate	UBERON:0005343	96.89	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	96.43	gold quality
brain	UBERON:0000955	95.17	gold quality
cerebral cortex	UBERON:0000956	94.62	gold quality
ganglionic eminence	UBERON:0004023	94.16	gold quality
frontal cortex	UBERON:0001870	88.53	gold quality
pituitary gland	UBERON:0000007	80.90	gold quality
adenohypophysis	UBERON:0002196	80.20	gold quality
prefrontal cortex	UBERON:0000451	79.98	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.41	gold quality
ventricular zone	UBERON:0003053	78.71	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-7316	yes	38.97
E-HCAD-5	yes	16.50
E-ANND-3	no	0.57

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

miRNA regulators (miRDB)

76 targeting ATP6V1G2, 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-513A-5P	100.00	69.77	2465
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
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-12118	100.00	65.88	1270
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Atp6v1g2	ENSMUSG00000024403
rattus_norvegicus	Atp6v1g2	ENSRNOG00000000840
drosophila_melanogaster	Vha13	FBGN0283536
caenorhabditis_elegans	vha-10	WBGENE00006919

Paralogs (2): ATP6V1G1 (ENSG00000136888), ATP6V1G3 (ENSG00000151418)

Protein

Protein identifiers

V-type proton ATPase subunit G 2 — O95670 (reviewed: O95670)

Alternative names: V-ATPase 13 kDa subunit 2, Vacuolar proton pump subunit G 2

All UniProt accessions (2): H0Y474, O95670

UniProt curated annotations — full annotation on UniProt →

Function. Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons. V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment.

Subunit / interactions. V-ATPase is a heteromultimeric enzyme made up of two complexes: the ATP-hydrolytic V1 complex and the proton translocation V0 complex. The V1 complex consists of three catalytic AB heterodimers that form a heterohexamer, three peripheral stalks each consisting of EG heterodimers, one central rotor including subunits D and F, and the regulatory subunits C and H. The proton translocation complex V0 consists of the proton transport subunit a, a ring of proteolipid subunits c9c’’, rotary subunit d, subunits e and f, and the accessory subunits ATP6AP1/Ac45 and ATP6AP2/PRR.

Subcellular location. Melanosome. Cytoplasmic vesicle. Clathrin-coated vesicle membrane.

Tissue specificity. Brain.

Similarity. Belongs to the V-ATPase G subunit family.

Isoforms (3)

UniProt ID	Names	Canonical?
O95670-1	1	yes
O95670-2	2
O95670-3	3

RefSeq proteins (3): NP_001191007, NP_569730, NP_612139 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005124	V-ATPase_G	Family

Pfam: PF03179

UniProt features (8 total): compositionally biased region 3, splice variant 2, chain 1, region of interest 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95670-F1	94.14	0.87

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-1222556	ROS and RNS production in phagocytes
R-HSA-77387	Insulin receptor recycling
R-HSA-917977	Transferrin endocytosis and recycling
R-HSA-9639288	Amino acids regulate mTORC1
R-HSA-983712	Ion channel transport

MSigDB gene sets: 187 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, REACTOME_SIGNALING_BY_INSULIN_RECEPTOR, GOBP_REGULATION_OF_AUTOPHAGY, REACTOME_INNATE_IMMUNE_SYSTEM, GOCC_VACUOLAR_MEMBRANE, GOBP_VESICLE_ORGANIZATION, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_MACROAUTOPHAGY, MODULE_66, MODULE_379, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOCC_COATED_VESICLE, GOMF_PROTON_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, MODULE_242

GO Biological Process (4): regulation of macroautophagy (GO:0016241), synaptic vesicle lumen acidification (GO:0097401), monoatomic ion transport (GO:0006811), proton transmembrane transport (GO:1902600)

GO Molecular Function (3): ATP hydrolysis activity (GO:0016887), proton-transporting ATPase activity, rotational mechanism (GO:0046961), protein binding (GO:0005515)

GO Cellular Component (9): vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221), cytosol (GO:0005829), clathrin-coated vesicle membrane (GO:0030665), synaptic vesicle membrane (GO:0030672), melanosome (GO:0042470), extrinsic component of synaptic vesicle membrane (GO:0098850), membrane (GO:0016020), vacuolar proton-transporting V-type ATPase complex (GO:0016471), cytoplasmic vesicle (GO:0031410)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Innate Immune System	1
Signaling by Insulin receptor	1
Iron uptake and transport	1
Cellular response to starvation	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
cellular anatomical structure	2
regulation of autophagy	1
macroautophagy	1
intercellular transport	1
synaptic vesicle maturation	1
establishment of localization in cell	1
neuron cellular homeostasis	1
synaptic vesicle cycle	1
proton transmembrane transport	1
transport	1
monoatomic cation transmembrane transport	1
ribonucleoside triphosphate phosphatase activity	1
ATP-dependent activity	1
proton transmembrane transporter activity	1
ATPase-coupled monoatomic cation transmembrane transporter activity	1
ATPase activity, coupled to transmembrane movement of ions, rotational mechanism	1
binding	1
vacuole	1
vacuolar proton-transporting V-type ATPase complex	1
proton-transporting V-type ATPase, V1 domain	1
clathrin-coated vesicle	1
coated vesicle membrane	1
synaptic vesicle	1
exocytic vesicle membrane	1
pigment granule	1
synaptic vesicle membrane	1
extrinsic component of organelle membrane	1
vacuolar membrane	1
proton-transporting V-type ATPase complex	1
intracellular vesicle	1

Protein interactions and networks

STRING

1838 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATP6V1G2	NFKBIL1	Q9UBC1	916
ATP6V1G2	ATP6V1E2	Q96A05	875
ATP6V1G2	ATP6V1E1	P36543	838
ATP6V1G2	ATP6V1F	Q16864	798
ATP6V1G2	ATP6V1D	Q9Y5K8	779
ATP6V1G2	ATP6V0A1	Q93050	743
ATP6V1G2	ATP6V0A4	Q9HBG4	724
ATP6V1G2	ATP6V0A2	Q9Y487	724
ATP6V1G2	TCIRG1	Q13488	710
ATP6V1G2	ATP6V0D1	P12953	710
ATP6V1G2	ATP6V0B	Q99437	708
ATP6V1G2	ATP6V1H	Q9UI12	693
ATP6V1G2	ATP6V0D2	Q8N8Y2	684
ATP6V1G2	ATP6V1C2	Q8NEY4	668
ATP6V1G2	ATP6V1B2	P21281	666

IntAct

23 interactions, top by confidence:

A	B	Type	Score
ATP6V1G2	ATP6V1E2	psi-mi:“MI:0915”(physical association)	0.670
USP20	ATP6V1G2	psi-mi:“MI:0915”(physical association)	0.560
ATP6V1B2	ATP6V1G1	psi-mi:“MI:0914”(association)	0.530
ATP6V1G2	ATP6V1B1	psi-mi:“MI:0914”(association)	0.530
APP	ESYT2	psi-mi:“MI:0914”(association)	0.350
ATP6V1C2	POTEF	psi-mi:“MI:0914”(association)	0.350
ATP6V1B1	ATP6V1G1	psi-mi:“MI:0914”(association)	0.350
ACOT6	ATP6V1G2	psi-mi:“MI:0914”(association)	0.350
GABARAPL2		psi-mi:“MI:0914”(association)	0.350
IQCB1	PCP4L1	psi-mi:“MI:0914”(association)	0.350
LAMP1	DST	psi-mi:“MI:0914”(association)	0.350
LAMTOR2	SCAMP3	psi-mi:“MI:0914”(association)	0.350
STX12	SCAMP1	psi-mi:“MI:0914”(association)	0.350
VAMP3	SCAMP1	psi-mi:“MI:0914”(association)	0.350
ATP6V1G2	ATP6V1E2	psi-mi:“MI:0915”(physical association)	0.000
USP20	ATP6V1G2	psi-mi:“MI:0915”(physical association)	0.000
ATP6V1E2	ATP6V1G2	psi-mi:“MI:0915”(physical association)	0.000
ATP6V1E1	ATP6V1G2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (46): ATP6V1G2 (Affinity Capture-MS), ATP6V1E1 (Two-hybrid), ATP6V1G2 (Affinity Capture-MS), ATP6V1G2 (Affinity Capture-MS), ATP6V1G2 (Affinity Capture-MS), ATP6V1G2 (Affinity Capture-MS), ATP6V1G2 (Proximity Label-MS), ATP6V1G2 (Affinity Capture-MS), ATP6V1G2 (Two-hybrid), ATP6V1E2 (Two-hybrid), ATP6V1D (Affinity Capture-MS), WDR7 (Affinity Capture-MS), ATP6V1G2 (Affinity Capture-MS), ATP6V0A2 (Affinity Capture-MS), ATP6V1C2 (Affinity Capture-MS)

ESM2 similar proteins: A4QNE9, A5DG59, A6MVW6, A6ZL57, A7M8Z0, A8PKH2, A8WM57, A9V549, B1A921, B3LN41, B4UN38, B5RSM1, O00780, O13687, O74174, O75348, O78477, O95670, P06453, P22203, P34339, P42171, P48836, P79251, P87150, P91303, Q00822, Q07508, Q0VCV6, Q19VA4, Q1XHY9, Q25532, Q40609, Q54Z13, Q5TM18, Q5WR09, Q5XGW0, Q617N0, Q6MGM3, Q6WNK7

Diamond homologs: A4QNE9, O75348, O95670, P79251, P91303, Q0VCV6, Q1XHY9, Q25532, Q5TM18, Q5WR09, Q5XGW0, Q617N0, Q862Z6, Q8BMC1, Q96LB4, Q9CR51, Q9TSV6, Q9WTT4, Q9XZH6, O74174, P48836, O82629, Q9SP55, O82628, O82702, O82703, Q9SZH0

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ATP6V1G2	“form complex”	V-ATPase	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 21 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
Insulin receptor recycling	6	142.8×	8e-11
Transferrin endocytosis and recycling	6	138.2×	8e-11
ROS and RNS production in phagocytes	6	126.0×	1e-10
Amino acids regulate mTORC1	7	87.7×	7e-11
Ion channel transport	6	36.0×	2e-07

GO biological processes:

GO term	Partners	Fold	FDR
regulation of macroautophagy	6	88.7×	7e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	13
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

487 predictions. Top by Δscore:

Variant	Effect	Δscore
6:31546102:AACTC:A	donor_loss	1.0000
6:31546104:CTCAC:C	donor_loss	1.0000
6:31546106:CACCG:C	donor_loss	1.0000
6:31546107:A:AC	donor_gain	1.0000
6:31546107:ACCG:A	donor_gain	1.0000
6:31546108:C:CC	donor_gain	1.0000
6:31546108:C:CG	donor_loss	1.0000
6:31546108:C:CT	donor_loss	1.0000
6:31546108:CCG:C	donor_gain	1.0000
6:31546108:CCGC:C	donor_gain	1.0000
6:31546205:CTTCC:C	acceptor_gain	1.0000
6:31546206:TTCC:T	acceptor_gain	1.0000
6:31546207:TCC:T	acceptor_gain	1.0000
6:31546208:CC:C	acceptor_gain	1.0000
6:31546208:CCC:C	acceptor_gain	1.0000
6:31546209:CC:C	acceptor_gain	1.0000
6:31546210:C:CC	acceptor_gain	1.0000
6:31546474:TCACT:T	donor_loss	1.0000
6:31546475:CA:C	donor_loss	1.0000
6:31546476:A:AC	donor_gain	1.0000
6:31546476:ACT:A	donor_gain	1.0000
6:31546477:C:CT	donor_gain	1.0000
6:31546477:CT:C	donor_gain	1.0000
6:31546477:CTC:C	donor_gain	1.0000
6:31546477:CTCT:C	donor_gain	1.0000
6:31546103:A:C	donor_gain	0.9900
6:31546206:TTCCC:T	acceptor_gain	0.9900
6:31546207:TCCC:T	acceptor_gain	0.9900
6:31546208:CCCT:C	acceptor_gain	0.9900
6:31546209:CCT:C	acceptor_gain	0.9900

AlphaMissense

768 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:31546528:A:G	L11P	0.999
6:31546140:C:G	R51P	0.998
6:31546174:C:G	A40P	0.998
6:31546186:C:G	A36P	0.998
6:31546205:C:A	K29N	0.998
6:31546205:C:G	K29N	0.998
6:31546487:C:G	A25P	0.998
6:31546525:A:G	L12P	0.998
6:31546528:A:T	L11H	0.998
6:31546149:C:G	R48P	0.997
6:31546194:A:G	L33P	0.997
6:31546197:C:G	R32P	0.997
6:31546482:T:A	R26S	0.997
6:31546482:T:G	R26S	0.997
6:31546505:C:G	A19P	0.997
6:31546520:C:G	A14P	0.997
6:31546537:A:G	I8T	0.997
6:31546493:C:G	A23P	0.996
6:31546537:A:T	I8N	0.996
6:31546190:C:A	K34N	0.995
6:31546190:C:G	K34N	0.995
6:31546483:C:G	R26T	0.995
6:31546508:C:G	A18P	0.995
6:31546516:T:A	E15V	0.995
6:31546541:C:G	G7R	0.995
6:31546207:T:C	K29E	0.994
6:31546483:C:A	R26I	0.994
6:31546486:G:T	A25D	0.994
6:31546515:C:A	E15D	0.994
6:31546515:C:G	E15D	0.994

dbSNP variants (sampled 300 via entrez): RS1000782414 (6:31544587 A>G), RS1001538623 (6:31544263 A>G,T), RS1001801229 (6:31545076 C>T), RS1002305802 (6:31544802 C>A), RS1002978518 (6:31548002 A>G), RS1004187261 (6:31546150 G>A), RS1004199229 (6:31546191 T>C), RS1004997408 (6:31544165 G>A), RS1005973967 (6:31547972 C>A,G,T), RS1011650593 (6:31547053 C>A), RS1012402130 (6:31547939 A>G), RS1012738125 (6:31546212 G>A), RS1012782268 (6:31548521 C>T), RS1013643397 (6:31544447 G>A,C), RS1014813818 (6:31545108 G>A,T)

Disease associations

OMIM: gene MIM:606853 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

23 associations (top):

Study	Trait	p-value
GCST003092_23	Myositis	6.000000e-49
GCST004131_25	Inflammatory bowel disease	2.000000e-31
GCST004133_79	Ulcerative colitis	5.000000e-65
GCST004521_114	Autism spectrum disorder or schizophrenia	3.000000e-17
GCST004521_117	Autism spectrum disorder or schizophrenia	3.000000e-15
GCST004521_126	Autism spectrum disorder or schizophrenia	2.000000e-10
GCST004521_209	Autism spectrum disorder or schizophrenia	5.000000e-16
GCST004521_211	Autism spectrum disorder or schizophrenia	5.000000e-15
GCST004521_213	Autism spectrum disorder or schizophrenia	5.000000e-13
GCST004521_265	Autism spectrum disorder or schizophrenia	7.000000e-14
GCST004521_27	Autism spectrum disorder or schizophrenia	1.000000e-09
GCST004521_3	Autism spectrum disorder or schizophrenia	2.000000e-15
GCST004521_70	Autism spectrum disorder or schizophrenia	8.000000e-20
GCST004521_81	Autism spectrum disorder or schizophrenia	1.000000e-14
GCST008916_111	Asthma	2.000000e-14
GCST008916_114	Asthma	1.000000e-09
GCST008916_30	Asthma	1.000000e-09
GCST008917_2	Asthma (childhood onset)	4.000000e-07
GCST008921_1	Asthma and major depressive disorder	2.000000e-16
GCST010245_7	LDL cholesterol levels	6.000000e-10
GCST010725_43	Malaria	5.000000e-07
GCST010725_62	Malaria	3.000000e-06
GCST90002394_45	Monocyte percentage of white cells	2.000000e-12

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0007989	monocyte percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — V-type ATPase

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
afuresertib	increases expression	1
methylmercuric chloride	decreases expression	1
cypermethrin	increases expression	1
sodium arsenite	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
Sunitinib	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	decreases expression, increases abundance	1
Cisplatin	affects response to substance	1
Doxorubicin	decreases expression	1
Formaldehyde	decreases expression	1
Gold	decreases expression	1
Lead	affects expression	1
Rotenone	affects expression	1
Silicon Dioxide	decreases expression	1
Tretinoin	affects cotreatment, increases expression	1
Urethane	increases expression	1
Valproic Acid	affects expression	1
Sodium Selenite	increases expression	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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