ATP6V0B

Summary

ATP6V0B (ATPase H+ transporting V0 subunit b, HGNC:861) is a protein-coding gene on chromosome 1p34.1, encoding V-type proton ATPase 21 kDa proteolipid subunit c’’ (Q99437). Proton-conducting pore forming subunit of the V0 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. It is a common-essential gene (DepMap: required in 99.2% of cancer cell lines).

This gene encodes a portion of the V0 domain of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Activity of this enzyme is necessary for such varied processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 533 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 46 total
• Cancer dependency (DepMap): dependent in 99.2% of screened cell lines (common-essential)
• MANE Select transcript: NM_004047

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:861
Approved symbol	ATP6V0B
Name	ATPase H+ transporting V0 subunit b
Location	1p34.1
Locus type	gene with protein product
Status	Approved
Aliases	VMA16, HATPL
Ensembl gene	ENSG00000117410
Ensembl biotype	protein_coding
OMIM	603717
Entrez	533

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 8 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000236067, ENST00000461670, ENST00000468183, ENST00000471859, ENST00000472174, ENST00000472277, ENST00000472505, ENST00000473485, ENST00000496131, ENST00000498208, ENST00000498664, ENST00000532072, ENST00000532642, ENST00000873750, ENST00000940210

RefSeq mRNA: 3 — MANE Select: NM_004047 NM_001039457, NM_001294333, NM_004047

CCDS: CCDS41315, CCDS505, CCDS72772

Canonical transcript exons

ENST00000472174 — 8 exons

Exon	Start	End
ENSE00001922958	43977981	43978295
ENSE00001934104	43974960	43975107
ENSE00003470128	43975800	43975848
ENSE00003472706	43976090	43976173
ENSE00003544979	43977026	43977216
ENSE00003573643	43976302	43976379
ENSE00003639190	43976590	43976659
ENSE00003657737	43976773	43976824

Expression profiles

Bgee: expression breadth ubiquitous, 289 present calls, max score 98.79.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 72.5274 / max 919.1965, expressed in 1825 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
2572	71.7811	1825
2573	0.7463	430

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	98.79	gold quality
metanephros cortex	UBERON:0010533	98.74	gold quality
adenohypophysis	UBERON:0002196	98.73	gold quality
monocyte	CL:0000576	98.71	gold quality
prefrontal cortex	UBERON:0000451	98.69	gold quality
leukocyte	CL:0000738	98.63	gold quality
mononuclear cell	CL:0000842	98.62	gold quality
pituitary gland	UBERON:0000007	98.59	gold quality
body of pancreas	UBERON:0001150	98.57	gold quality
mucosa of transverse colon	UBERON:0004991	98.56	gold quality
blood	UBERON:0000178	98.55	gold quality
right frontal lobe	UBERON:0002810	98.51	gold quality
periodontal ligament	UBERON:0008266	98.44	gold quality
right adrenal gland	UBERON:0001233	98.43	gold quality
left adrenal gland	UBERON:0001234	98.42	gold quality
right adrenal gland cortex	UBERON:0035827	98.40	gold quality
left adrenal gland cortex	UBERON:0035825	98.39	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.38	gold quality
islet of Langerhans	UBERON:0000006	98.32	gold quality
cingulate cortex	UBERON:0003027	98.19	gold quality
Brodmann (1909) area 9	UBERON:0013540	98.18	gold quality
anterior cingulate cortex	UBERON:0009835	98.17	gold quality
body of stomach	UBERON:0001161	98.06	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.05	gold quality
adult mammalian kidney	UBERON:0000082	98.04	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	98.03	gold quality
adrenal cortex	UBERON:0001235	98.01	gold quality
cerebellar hemisphere	UBERON:0002245	97.97	gold quality
cerebellar cortex	UBERON:0002129	97.95	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.85	gold quality

Single-cell (SCXA)

Detected in 17 experiment(s), a significant marker in 14.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	1590.01
E-MTAB-8559	yes	1044.95
E-HCAD-4	yes	194.71
E-HCAD-1	yes	82.16
E-MTAB-6701	yes	45.63
E-MTAB-8410	yes	40.78
E-MTAB-9221	yes	26.29
E-MTAB-10287	yes	23.18
E-CURD-122	yes	17.74
E-GEOD-125970	yes	16.91
E-HCAD-10	yes	14.36
E-CURD-46	yes	10.93
E-MTAB-10042	yes	10.59
E-MTAB-8060	no	314.95
E-MTAB-10290	no	306.92

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CREB1

miRNA regulators (miRDB)

19 targeting ATP6V0B, 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-5692A	100.00	74.40	6850
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-4426	99.17	66.74	1949
HSA-MIR-6840-3P	98.68	65.95	1923
HSA-MIR-6804-5P	98.39	65.77	1084
HSA-MIR-4662B	98.33	66.37	1163
HSA-MIR-4647	98.30	66.41	1139
HSA-MIR-634	97.74	67.11	818
HSA-MIR-6791-3P	97.45	64.31	1123
HSA-MIR-6829-3P	97.45	64.31	1137
HSA-MIR-6836-3P	97.08	64.99	712
HSA-MIR-6736-3P	96.98	65.22	1342
HSA-MIR-1288-3P	96.86	66.95	536
HSA-MIR-4750-3P	96.65	64.38	512
HSA-MIR-4704-5P	96.13	68.67	608

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.2% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 3)

• proximal promoter region contains cis-acting elements required for expression in cancer cells (PMID:12890556)
• These studies show a Na(+)- and HCO(3)(-)-independent pH(cyt) regulatory mechanism in HLMVE cells that is mediated by pmV-ATPases. (PMID:15249206)
• there is an important role for physical association between aldolase and the A, B and E subunits of V-ATPase in the regulation of the proton pump (PMID:17576770)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	atp6v0b	ENSDARG00000031681
mus_musculus	Atp6v0b	ENSMUSG00000033379
drosophila_melanogaster	VhaPPA1-1	FBGN0028662
drosophila_melanogaster	VhaPPA1-2	FBGN0262514
caenorhabditis_elegans		WBGENE00006913

Paralogs (1): ATP6V0C (ENSG00000185883)

Protein

Protein identifiers

V-type proton ATPase 21 kDa proteolipid subunit c’’ — Q99437 (reviewed: Q99437)

Alternative names: Vacuolar proton pump 21 kDa proteolipid subunit c’’, hATPL

All UniProt accessions (6): E9PKB6, E9PMR1, E9PNL3, E9PNU0, Q99437, H0YCC5

UniProt curated annotations — full annotation on UniProt →

Function. Proton-conducting pore forming subunit of the V0 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. Interacts with IFITM3. Interacts with TM4SF19; this interaction inhibits V1-V0 complex assembly.

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

Tissue specificity. Ubiquitous.

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

Isoforms (2)

UniProt ID	Names	Canonical?
Q99437-1	1	yes
Q99437-2	2

RefSeq proteins (3): NP_001034546, NP_001281262, NP_004038* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000245	ATPase_proteolipid_csu	Family
IPR002379	ATPase_proteolipid_c-like_dom	Domain
IPR035921	F/V-ATP_Csub_sf	Homologous_superfamily

Pfam: PF00137

UniProt features (24 total): helix 9, topological domain 6, transmembrane region 5, chain 1, site 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

9 structures.

PDB	Method	Resolution (Å)
6WLW	ELECTRON MICROSCOPY	3
9DET	ELECTRON MICROSCOPY	3
6WM2	ELECTRON MICROSCOPY	3.1
6WM3	ELECTRON MICROSCOPY	3.4
9CF8	ELECTRON MICROSCOPY	3.46
9CFC	ELECTRON MICROSCOPY	3.47
6WM4	ELECTRON MICROSCOPY	3.6
7U4T	ELECTRON MICROSCOPY	3.6
7UNF	ELECTRON MICROSCOPY	4.08

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q99437-F1	92.53	0.78

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 98 (essential for proton translocation)

Function

Pathways and Gene Ontology

Reactome pathways

6 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
R-HSA-9857377	Regulation of MITF-M-dependent genes involved in lysosome biogenesis and autophagy

MSigDB gene sets: 301 (showing top): REACTOME_SIGNALING_BY_INSULIN_RECEPTOR, GOBP_REGULATION_OF_AUTOPHAGY, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_ENDOSOME_ORGANIZATION, GOBP_VACUOLE_ORGANIZATION, GOCC_VACUOLAR_MEMBRANE, MODULE_151, GOBP_VESICLE_ORGANIZATION, ENK_UV_RESPONSE_KERATINOCYTE_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, MORI_IMMATURE_B_LYMPHOCYTE_UP, KEGG_LYSOSOME, HUMMERICH_SKIN_CANCER_PROGRESSION_DN

GO Biological Process (8): vacuolar acidification (GO:0007035), lysosomal lumen acidification (GO:0007042), regulation of macroautophagy (GO:0016241), endosomal lumen acidification (GO:0048388), intracellular pH reduction (GO:0051452), Golgi lumen acidification (GO:0061795), proton transmembrane transport (GO:1902600), monoatomic ion transport (GO:0006811)

GO Molecular Function (3): proton-transporting ATPase activity, rotational mechanism (GO:0046961), protein binding (GO:0005515), proton transmembrane transporter activity (GO:0015078)

GO Cellular Component (13): Golgi membrane (GO:0000139), vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220), lysosomal membrane (GO:0005765), plasma membrane (GO:0005886), endosome membrane (GO:0010008), membrane (GO:0016020), clathrin-coated vesicle membrane (GO:0030665), phagocytic vesicle membrane (GO:0030670), proton-transporting V-type ATPase complex (GO:0033176), endosome (GO:0005768), cytoplasmic vesicle (GO:0031410), proton-transporting two-sector ATPase complex, proton-transporting domain (GO:0033177), proton-transporting V-type ATPase, V0 domain (GO:0033179)

Reactome top-level categories

Rollup of top-6 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
MITF-M-dependent gene expression	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular pH reduction	3
bounding membrane of organelle	2
proton-transporting two-sector ATPase complex	2
vacuolar acidification	1
regulation of autophagy	1
macroautophagy	1
endosome organization	1
regulation of intracellular pH	1
monoatomic cation transmembrane transport	1
transport	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
monoatomic cation transmembrane transporter activity	1
proton transmembrane transport	1
Golgi apparatus	1
vacuolar membrane	1
vacuolar proton-transporting V-type ATPase complex	1
proton-transporting V-type ATPase, V0 domain	1
lysosome	1
lytic vacuole membrane	1
membrane	1
cell periphery	1
endosome	1
cytoplasmic vesicle membrane	1
cellular anatomical structure	1
clathrin-coated vesicle	1
coated vesicle membrane	1
endocytic vesicle membrane	1
phagocytic vesicle	1
cation-transporting ATPase complex	1
ATPase complex	1
endomembrane system	1
cytoplasmic vesicle	1
cytoplasm	1
intracellular vesicle	1
membrane protein complex	1
proton-transporting V-type ATPase complex	1
proton-transporting two-sector ATPase complex, proton-transporting domain	1

Protein interactions and networks

STRING

2386 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATP6V0B	ATP6V1H	Q9UI12	857
ATP6V0B	ATP6V1A	P38606	855
ATP6V0B	ATP6V1F	Q16864	854
ATP6V0B	ATP6V0D1	P12953	848
ATP6V0B	ATP6AP1	Q15904	847
ATP6V0B	ATP6V1G1	O75348	839
ATP6V0B	ATP6V1B2	P21281	829
ATP6V0B	ATP6V0A1	Q93050	801
ATP6V0B	ATP6V0E2	Q8NHE4	800
ATP6V0B	ATP6V1C2	Q8NEY4	779
ATP6V0B	ATP6V0A4	Q9HBG4	764
ATP6V0B	ATP6AP2	O75787	764
ATP6V0B	ATP6V0A2	Q9Y487	762
ATP6V0B	ATP6V0E1	O15342	761
ATP6V0B	ATP6V1E2	Q96A05	747

IntAct

73 interactions, top by confidence:

A	B	Type	Score
ATP6V0B	TMEM242	psi-mi:“MI:0915”(physical association)	0.560
MFF	ATP6V0B	psi-mi:“MI:0915”(physical association)	0.560
ATP6V0B	EMP1	psi-mi:“MI:0915”(physical association)	0.560
INSIG2	ATP6V0B	psi-mi:“MI:0915”(physical association)	0.560
KLRC1	ATP6V0B	psi-mi:“MI:0915”(physical association)	0.560
ATP6V0B	GPR61	psi-mi:“MI:0915”(physical association)	0.560
STOM	ATP6V0B	psi-mi:“MI:0915”(physical association)	0.560
MS4A3	ATP6V0B	psi-mi:“MI:0915”(physical association)	0.560
EMP1	ATP6V0B	psi-mi:“MI:0915”(physical association)	0.560
ADGRG3	ATP6V0B	psi-mi:“MI:0915”(physical association)	0.560
GJA8	ATP6V0B	psi-mi:“MI:0915”(physical association)	0.560
FAM210B	ATP6V0B	psi-mi:“MI:0915”(physical association)	0.560
APOD	ATP6V0B	psi-mi:“MI:0915”(physical association)	0.560
ATP6V0B	MFF	psi-mi:“MI:0915”(physical association)	0.560
SLC2A5	ATP6V0B	psi-mi:“MI:0915”(physical association)	0.560
TM4SF19	ATP6V0B	psi-mi:“MI:0915”(physical association)	0.560
GPR42	ATP6V0B	psi-mi:“MI:0915”(physical association)	0.560
VMA21	ATP6V0B	psi-mi:“MI:0915”(physical association)	0.560
SLC10A1	ATP6V0B	psi-mi:“MI:0915”(physical association)	0.560
COL4A5	ATP6V0B	psi-mi:“MI:0915”(physical association)	0.560
NRM	ATP6V0B	psi-mi:“MI:0915”(physical association)	0.560
ATP6V0B	INSIG2	psi-mi:“MI:0915”(physical association)	0.560
ATP6V0B	SPACA1	psi-mi:“MI:0915”(physical association)	0.560
MIP	ATP6V0B	psi-mi:“MI:0915”(physical association)	0.560
GLP1R	ATP6V0B	psi-mi:“MI:0915”(physical association)	0.510

BioGRID (39): ATP6V0B (Affinity Capture-RNA), ATP6V0B (Affinity Capture-RNA), ATP6V0B (Reconstituted Complex), ATP6V0B (Two-hybrid), ATP6V0B (Two-hybrid), SPACA1 (Two-hybrid), GJA8 (Two-hybrid), FAM210B (Two-hybrid), INSIG2 (Two-hybrid), GPR42 (Two-hybrid), EMP1 (Two-hybrid), KLRC1 (Two-hybrid), MIP (Two-hybrid), NRM (Two-hybrid), SLC2A5 (Two-hybrid)

ESM2 similar proteins: A1XQS5, A6H666, A8XDX2, B0VYY5, B3DHU2, G5EDB8, O14046, P00842, P05496, P07926, P10175, P11432, P16000, P16221, P17605, P23968, P32876, P48201, P48772, P56383, P56384, Q01931, Q03672, Q06055, Q06056, Q06645, Q06646, Q0V9J0, Q0VCH8, Q2LCR3, Q2TA24, Q37315, Q3ZC75, Q53CG1, Q59550, Q5RAP9, Q5RFL2, Q5SWH9, Q71S46, Q7JX57

Diamond homologs: A2ZBW5, C0HLB3, C0HLB4, C0HLB5, C0HLB6, O14046, O16110, O18882, O22552, O24011, P0DH92, P0DH93, P0DH94, P23380, P23956, P23957, P23968, P25515, P27449, P31403, P31413, P32842, P50515, P54642, P55277, P59228, P59229, P63081, P63082, P68161, P68162, Q00607, Q03105, Q0IUB5, Q17046, Q21898, Q24808, Q24810, Q26250, Q2TA24

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ATP6V0B	“form complex”	V-ATPase	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	14
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1082 predictions. Top by Δscore:

Variant	Effect	Δscore
1:43974933:T:G	donor_gain	1.0000
1:43976076:T:TA	acceptor_gain	1.0000
1:43976083:A:AG	acceptor_gain	1.0000
1:43976084:C:G	acceptor_gain	1.0000
1:43976085:A:AG	acceptor_gain	1.0000
1:43976085:AACAG:A	acceptor_gain	1.0000
1:43976086:A:G	acceptor_gain	1.0000
1:43976087:CA:C	acceptor_loss	1.0000
1:43976088:A:AG	acceptor_gain	1.0000
1:43976088:AG:A	acceptor_gain	1.0000
1:43976088:AGGTT:A	acceptor_loss	1.0000
1:43976089:G:GT	acceptor_gain	1.0000
1:43976089:GG:G	acceptor_gain	1.0000
1:43976089:GGT:G	acceptor_gain	1.0000
1:43976089:GGTT:G	acceptor_gain	1.0000
1:43976089:GGTTC:G	acceptor_gain	1.0000
1:43976169:GCCTG:G	donor_gain	1.0000
1:43976170:CCTG:C	donor_gain	1.0000
1:43976171:CTG:C	donor_gain	1.0000
1:43976172:TG:T	donor_gain	1.0000
1:43976173:GG:G	donor_gain	1.0000
1:43976173:GGTG:G	donor_loss	1.0000
1:43976174:G:C	donor_loss	1.0000
1:43976174:G:GG	donor_gain	1.0000
1:43976175:T:G	donor_loss	1.0000
1:43976297:A:AG	acceptor_gain	1.0000
1:43976297:ACCAG:A	acceptor_gain	1.0000
1:43976298:C:G	acceptor_gain	1.0000
1:43976299:CAG:C	acceptor_loss	1.0000
1:43976300:A:AC	acceptor_loss	1.0000

AlphaMissense

1334 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:43976118:T:A	W49R	1.000
1:43976118:T:C	W49R	1.000
1:43976130:G:C	G53R	1.000
1:43976131:G:A	G53D	1.000
1:43976155:C:T	S61F	1.000
1:43976163:G:A	G64R	1.000
1:43976163:G:C	G64R	1.000
1:43976163:G:T	G64W	1.000
1:43976164:G:A	G64E	1.000
1:43976164:G:T	G64V	1.000
1:43976303:G:C	G68R	1.000
1:43976303:G:T	G68C	1.000
1:43976304:G:A	G68D	1.000
1:43976304:G:T	G68V	1.000
1:43976318:G:C	G73R	1.000
1:43976319:G:A	G73D	1.000
1:43976334:G:A	G78D	1.000
1:43976368:G:C	K89N	1.000
1:43976368:G:T	K89N	1.000
1:43976371:C:A	N90K	1.000
1:43976371:C:G	N90K	1.000
1:43976373:T:A	L91Q	1.000
1:43976373:T:C	L91P	1.000
1:43976376:T:A	V92D	1.000
1:43976378:A:C	S93R	1.000
1:43976590:C:A	S93R	1.000
1:43976590:C:G	S93R	1.000
1:43976595:T:A	I95N	1.000
1:43976595:T:G	I95S	1.000
1:43976597:T:A	F96I	1.000

dbSNP variants (sampled 300 via entrez): RS1000203167 (1:43976991 G>A,T), RS1000269994 (1:43977069 C>T), RS1000321309 (1:43977377 GCTCT>G,GCT), RS1000495113 (1:43976088 A>G), RS1000572528 (1:43977741 G>C), RS1001656927 (1:43978073 G>A), RS1001960030 (1:43976641 C>A,G,T), RS1002115685 (1:43976243 G>A), RS1002505917 (1:43973307 G>A), RS1002815133 (1:43973196 C>A,T), RS1003822028 (1:43974755 G>A,C), RS1004341714 (1:43976560 C>T), RS1004517634 (1:43976672 A>G), RS1004898187 (1:43978356 C>T), RS1005346945 (1:43978128 C>T)

Disease associations

OMIM: gene MIM:603717 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST004521_235	Autism spectrum disorder or schizophrenia	4.000000e-10

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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression, decreases methylation	4
sodium arsenite	affects cotreatment, increases abundance, increases expression	3
bisphenol A	affects expression, increases methylation	2
Air Pollutants	affects expression, increases abundance, decreases expression	2
Rotenone	decreases expression, increases expression	2
Particulate Matter	decreases expression, increases abundance, affects cotreatment, increases expression	2
aristolochic acid I	increases expression	1
bisphenol F	increases expression, affects cotreatment	1
bufotalin	increases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	increases expression	1
cobaltous chloride	increases expression	1
tanshinone	increases expression	1
manganese chloride	increases expression, affects cotreatment, increases abundance	1
isobutyl alcohol	affects cotreatment, increases abundance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
ICG 001	increases expression	1
abrine	increases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
MT19c compound	decreases expression	1
Irinotecan	increases response to substance	1
Arsenic Trioxide	increases expression	1
Ethanol	affects cotreatment, increases abundance, increases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Aspirin	decreases expression	1
Cadmium	increases expression	1
Dexamethasone	increases expression, affects cotreatment	1
Diuron	decreases expression	1

Clinical trials (associated diseases)

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