ATP6V0E1

Summary

ATP6V0E1 (ATPase H+ transporting V0 subunit e1, HGNC:863) is a protein-coding gene on chromosome 5q35.1, encoding V-type proton ATPase subunit e 1 (O15342). 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 selective cancer dependency (DepMap: 10.3% of cell lines).

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle 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 possibly part of the V0 subunit. Since two nontranscribed pseudogenes have been found in dog, it is possible that the localization to chromosome 2 for this gene by radiation hybrid mapping is representing a pseudogene. Genomic mapping puts the chromosomal location on 5q35.3.

Source: NCBI Gene 8992 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 29 total — 6 pathogenic
• Cancer dependency (DepMap): dependent in 10.3% of screened cell lines
• MANE Select transcript: NM_003945

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:863
Approved symbol	ATP6V0E1
Name	ATPase H+ transporting V0 subunit e1
Location	5q35.1
Locus type	gene with protein product
Status	Approved
Aliases	M9.2
Ensembl gene	ENSG00000113732
Ensembl biotype	protein_coding
OMIM	603931
Entrez	8992

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000265093, ENST00000517669, ENST00000519374, ENST00000519911, ENST00000937345

RefSeq mRNA: 1 — MANE Select: NM_003945 NM_003945

CCDS: CCDS4383

Canonical transcript exons

ENST00000519374 — 4 exons

Exon	Start	End
ENSE00000769475	172994775	172994822
ENSE00001129574	173020238	173020367
ENSE00001129580	172983771	172983964
ENSE00002096326	173034399	173035445

Expression profiles

Bgee: expression breadth ubiquitous, 305 present calls, max score 99.65.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 223.7162 / max 1507.6702, expressed in 1828 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
60279	223.3774	1828
60280	0.3388	160

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
epithelium of nasopharynx	UBERON:0001951	99.65	gold quality
nasopharynx	UBERON:0001728	99.64	gold quality
corpus epididymis	UBERON:0004359	99.58	gold quality
endothelial cell	CL:0000115	99.50	gold quality
palpebral conjunctiva	UBERON:0001812	99.45	gold quality
gingival epithelium	UBERON:0001949	99.42	gold quality
stromal cell of endometrium	CL:0002255	99.41	gold quality
nephron tubule	UBERON:0001231	99.39	gold quality
cauda epididymis	UBERON:0004360	99.39	gold quality
periodontal ligament	UBERON:0008266	99.37	gold quality
adenohypophysis	UBERON:0002196	99.36	gold quality
visceral pleura	UBERON:0002401	99.35	gold quality
islet of Langerhans	UBERON:0000006	99.34	gold quality
pituitary gland	UBERON:0000007	99.33	gold quality
germinal epithelium of ovary	UBERON:0001304	99.32	gold quality
gingiva	UBERON:0001828	99.32	gold quality
adult organism	UBERON:0007023	99.25	gold quality
renal medulla	UBERON:0000362	99.22	gold quality
monocyte	CL:0000576	99.21	gold quality
amniotic fluid	UBERON:0000173	99.21	gold quality
kidney epithelium	UBERON:0004819	99.21	gold quality
leukocyte	CL:0000738	99.19	gold quality
mononuclear cell	CL:0000842	99.19	gold quality
eye	UBERON:0000970	99.19	gold quality
metanephros cortex	UBERON:0010533	99.19	gold quality
cortex of kidney	UBERON:0001225	99.18	gold quality
parotid gland	UBERON:0001831	99.18	gold quality
cervix squamous epithelium	UBERON:0006922	99.17	gold quality
pleura	UBERON:0000977	99.15	gold quality
right lung	UBERON:0002167	99.15	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-HCAD-23	yes	2167.18
E-MTAB-7316	yes	24.51
E-HCAD-13	yes	20.82
E-HCAD-10	yes	12.73
E-MTAB-10042	yes	9.99
E-GEOD-93593	yes	7.61
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CREB5

miRNA regulators (miRDB)

44 targeting ATP6V0E1, 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-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836
HSA-MIR-3666	99.90	73.24	1833
HSA-MIR-4295	99.90	73.11	1838
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-519A-3P	99.67	71.67	1868
HSA-MIR-519B-3P	99.67	71.67	1868
HSA-MIR-519C-3P	99.67	71.67	1870
HSA-MIR-587	99.64	70.86	2611
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-3612	99.45	66.02	1333
HSA-MIR-650	99.45	65.77	1309
HSA-MIR-4426	99.17	66.74	1949
HSA-MIR-548L	99.06	70.90	2560

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 10.3% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 3)

• Data demonstrate the physiological significance of the interaction between the E and H subunits of V-ATPase and extend previous studies on the arrangement of subunits on the peripheral stalk of V-ATPase. (PMID:12163484)
• 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)
• Transcriptomic and functional studies reveal miR-431-5p as a tumour suppressor in pancreatic ductal adenocarcinoma cells. (PMID:35182679)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	atp6v0e1	ENSDARG00000101794
mus_musculus	Atp6v0e	ENSMUSG00000015575
rattus_norvegicus	Atp6v0e1	ENSRNOG00000003269
drosophila_melanogaster	VhaM9.7-b	FBGN0028663
drosophila_melanogaster	VhaM9.7-c	FBGN0028664
drosophila_melanogaster	VhaM9.7-a	FBGN0035521
drosophila_melanogaster	VhaM9.7-d	FBGN0038458
caenorhabditis_elegans		WBGENE00009882

Paralogs (1): ATP6V0E2 (ENSG00000171130)

Protein

Protein identifiers

V-type proton ATPase subunit e 1 — O15342 (reviewed: O15342)

Alternative names: V-ATPase 9.2 kDa membrane accessory protein, V-ATPase M9.2 subunit, Vacuolar proton pump subunit e 1

All UniProt accessions (3): O15342, E5RHL5, J3KN48

UniProt curated annotations — full annotation on UniProt →

Function. 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.

Subcellular location. Membrane.

Tissue specificity. Ubiquitous.

Similarity. Belongs to the V-ATPase e1/e2 subunit family.

RefSeq proteins (1): NP_003936* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008389	ATPase_V0-cplx_e1/e2_su	Family
IPR017385	ATPase_V0-cplx_e1/e2_su_met	Family

Pfam: PF05493

UniProt features (12 total): helix 4, topological domain 3, transmembrane region 2, chain 1, strand 1, glycosylation site 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-O15342-F1	92.97	0.89

Functional residue map

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

Glycosylation sites (1): 70

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: 255 (showing top): REACTOME_SIGNALING_BY_INSULIN_RECEPTOR, GOBP_REGULATION_OF_AUTOPHAGY, REACTOME_INNATE_IMMUNE_SYSTEM, YAGI_AML_WITH_INV_16_TRANSLOCATION, KAAB_FAILED_HEART_ATRIUM_DN, GOCC_VACUOLAR_MEMBRANE, MODULE_151, ENK_UV_RESPONSE_KERATINOCYTE_UP, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_UP, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_MACROAUTOPHAGY, WEI_MYCN_TARGETS_WITH_E_BOX, MISSIAGLIA_REGULATED_BY_METHYLATION_UP, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN

GO Biological Process (5): vacuolar acidification (GO:0007035), regulation of macroautophagy (GO:0016241), transmembrane transport (GO:0055085), proton transmembrane transport (GO:1902600), monoatomic ion transport (GO:0006811)

GO Molecular Function (3): ATPase-coupled ion transmembrane transporter activity (GO:0042625), proton-transporting ATPase activity, rotational mechanism (GO:0046961), protein binding (GO:0005515)

GO Cellular Component (6): lysosomal membrane (GO:0005765), endosome membrane (GO:0010008), phagocytic vesicle membrane (GO:0030670), proton-transporting V-type ATPase, V0 domain (GO:0033179), membrane (GO:0016020), proton-transporting V-type ATPase complex (GO:0033176)

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
transport	2
intracellular pH reduction	1
regulation of autophagy	1
macroautophagy	1
cellular process	1
monoatomic cation transmembrane transport	1
ATPase-coupled transmembrane transporter 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
lysosome	1
lytic vacuole membrane	1
endosome	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1
endocytic vesicle membrane	1
phagocytic vesicle	1
proton-transporting V-type ATPase complex	1
proton-transporting two-sector ATPase complex, proton-transporting domain	1
cellular anatomical structure	1
proton-transporting two-sector ATPase complex	1
cation-transporting ATPase complex	1
ATPase complex	1

Protein interactions and networks

STRING

854 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATP6V0E1	ATP6AP2	O75787	897
ATP6V0E1	ATP6V0B	Q99437	761
ATP6V0E1	ATP6V1D	Q9Y5K8	696
ATP6V0E1	ATP6V1F	Q16864	696
ATP6V0E1	ATP6V1H	Q9UI12	691
ATP6V0E1	ATP6AP1	Q15904	647
ATP6V0E1	ATP6V0C	P27449	630
ATP6V0E1	ATP6V1B2	P21281	620
ATP6V0E1	ATP5MF	P56134	539
ATP6V0E1	ATP6V1E1	P36543	509
ATP6V0E1	ATP6V1G1	O75348	509
ATP6V0E1	ATP6V1C2	Q8NEY4	503
ATP6V0E1	ATP6V1C1	P21283	490
ATP6V0E1	ATP6V0A2	Q9Y487	488
ATP6V0E1	ATP6V1G2	O95670	474

IntAct

54 interactions, top by confidence:

A	B	Type	Score
GPR25	ATP6V0E1	psi-mi:“MI:0915”(physical association)	0.560
ATP6V0E1	OPRM1	psi-mi:“MI:0915”(physical association)	0.560
ATP6V0E1	KIR2DL3	psi-mi:“MI:0915”(physical association)	0.560
ATP6V0E1	EMP1	psi-mi:“MI:0915”(physical association)	0.560
ATP6V0E1	SYT15	psi-mi:“MI:0915”(physical association)	0.560
ATP6V0E1	YIPF6	psi-mi:“MI:0915”(physical association)	0.560
ATP6V0E1	TMEM254	psi-mi:“MI:0915”(physical association)	0.560
ATP6V0E1	PLN	psi-mi:“MI:0915”(physical association)	0.560
ATP6V0E1	MAL2	psi-mi:“MI:0915”(physical association)	0.560
ATP6V0E1	NAT8	psi-mi:“MI:0915”(physical association)	0.560
ATP6V0E1	APOD	psi-mi:“MI:0915”(physical association)	0.560
TMEM218	ATP6V0E1	psi-mi:“MI:0915”(physical association)	0.560
ATP6V0E1	MS4A13	psi-mi:“MI:0915”(physical association)	0.560
ATP6V0E1	COL8A2	psi-mi:“MI:0915”(physical association)	0.560
CXCL16	ATP6V0E1	psi-mi:“MI:0915”(physical association)	0.560
CDIPT	ATP6V0E1	psi-mi:“MI:0915”(physical association)	0.560
ATP6V0E1	MS4A4A	psi-mi:“MI:0915”(physical association)	0.560
ATP6V0E1	PTPRF	psi-mi:“MI:0914”(association)	0.350
ATP6V0E1	ATP6AP2	psi-mi:“MI:0914”(association)	0.350
ATP6V0E1	OPRM1	psi-mi:“MI:0915”(physical association)	0.000
TMEM254	ATP6V0E1	psi-mi:“MI:0915”(physical association)	0.000
PLN	ATP6V0E1	psi-mi:“MI:0915”(physical association)	0.000
MAL2	ATP6V0E1	psi-mi:“MI:0915”(physical association)	0.000
NAT8	ATP6V0E1	psi-mi:“MI:0915”(physical association)	0.000
APOD	ATP6V0E1	psi-mi:“MI:0915”(physical association)	0.000
TMEM218	ATP6V0E1	psi-mi:“MI:0915”(physical association)	0.000
MS4A13	ATP6V0E1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (41): ATP6V0A2 (Affinity Capture-MS), CCDC115 (Affinity Capture-MS), TMEM199 (Affinity Capture-MS), VMA21 (Affinity Capture-MS), SLC7A2 (Affinity Capture-MS), ATP6V0A1 (Affinity Capture-MS), REEP5 (Affinity Capture-MS), PTPRF (Affinity Capture-MS), PIGG (Affinity Capture-MS), ACP2 (Affinity Capture-MS), ATP6V0E1 (Two-hybrid), ATP6V0E1 (Two-hybrid), ATP6V0E1 (Two-hybrid), TMEM254 (Two-hybrid), EMP1 (Two-hybrid)

ESM2 similar proteins: A2RU14, A5PJF4, A6H5E4, B0C1V6, B0JYX6, D0VWR8, O15342, O30139, O30278, O83005, O98733, P04124, P06010, P06631, P10717, P19057, P24625, P32700, P51751, P51761, P51762, P53089, P80102, Q04507, Q06J21, Q116J3, Q1ACH2, Q20591, Q25BH0, Q2JKT8, Q2JRJ5, Q2KIB5, Q2RQ23, Q32RX1, Q3E7B6, Q5EB76, Q5RAV0, Q60304, Q6B929, Q6H956

Diamond homologs: O15342, P81103, Q20591, Q2KIB5, Q5EB76, Q5K8S8, Q5RAV0, Q69Z14, Q794C0, Q8NHE4, Q91XE7, Q9BDP4, Q9CQD8, Q9FLN5, Q9SZ13, Q3E7B6, Q75EU0

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
CREB5	“up-regulates quantity by expression”	ATP6V0E1	“transcriptional regulation”
ATP6V0E1	“form complex”	V-ATPase	binding
TFEB	“up-regulates quantity by expression”	ATP6V0E1	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	0
Uncertain significance	13
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
2425102	NC_000005.9:g.(?172089144)(172774583_?)del	Pathogenic
3246360	NC_000005.9:g.(?171765373)(172662086_?)del	Pathogenic
3246450	NC_000005.9:g.(?171765373)(172550225_?)del	Pathogenic
58395	GRCh38/hg38 5q35.1-35.2(chr5:172776798-174342969)x1	Pathogenic
58396	GRCh38/hg38 5q35.1-35.2(chr5:172961091-175054665)x1	Pathogenic
692223	GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1	Pathogenic

SpliceAI

820 predictions. Top by Δscore:

Variant	Effect	Δscore
5:172983961:GGGG:G	donor_gain	1.0000
5:172983962:GGG:G	donor_gain	1.0000
5:172983962:GGGG:G	donor_gain	1.0000
5:172983963:GG:G	donor_gain	1.0000
5:172983963:GGG:G	donor_gain	1.0000
5:172983964:GG:G	donor_gain	1.0000
5:172994773:A:AG	acceptor_gain	1.0000
5:172994774:G:GG	acceptor_gain	1.0000
5:172994774:GA:G	acceptor_gain	1.0000
5:172994774:GAGTT:G	acceptor_gain	1.0000
5:172994823:G:GG	donor_gain	1.0000
5:173010819:G:GT	donor_gain	1.0000
5:173010819:G:T	donor_gain	1.0000
5:173020236:A:AG	acceptor_gain	1.0000
5:173020237:G:GG	acceptor_gain	1.0000
5:172983965:GTAA:G	donor_loss	0.9900
5:172983966:T:TC	donor_loss	0.9900
5:172994769:TTTTA:T	acceptor_loss	0.9900
5:172994772:TA:T	acceptor_loss	0.9900
5:172994773:AG:A	acceptor_loss	0.9900
5:172994774:G:A	acceptor_loss	0.9900
5:172994818:CTCTT:C	donor_gain	0.9900
5:172994819:TCTT:T	donor_gain	0.9900
5:172994820:CTT:C	donor_gain	0.9900
5:172994820:CTTGT:C	donor_loss	0.9900
5:172994821:TT:T	donor_gain	0.9900
5:172994823:GTAA:G	donor_loss	0.9900
5:172994825:A:AA	donor_loss	0.9900
5:172994825:AAG:A	acceptor_loss	0.9900
5:172994826:A:AC	donor_loss	0.9900

AlphaMissense

523 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:172994809:T:C	C47R	0.999
5:172994812:T:C	C48R	0.999
5:173020278:G:A	G65R	0.999
5:173020278:G:C	G65R	0.999
5:173020279:G:A	G65E	0.999
5:173020288:T:C	L68S	0.999
5:172983909:T:A	W17R	0.998
5:172983909:T:C	W17R	0.998
5:172983912:G:C	G18R	0.998
5:172983921:G:C	G21R	0.998
5:172983922:G:A	G21D	0.998
5:172994807:T:A	V46D	0.998
5:172994813:G:A	C48Y	0.998
5:172994814:C:G	C48W	0.998
5:173020239:T:A	W52R	0.998
5:173020239:T:C	W52R	0.998
5:173020243:T:C	L53P	0.998
5:173020249:C:A	A55E	0.998
5:173020269:C:T	P62S	0.998
5:173020270:C:A	P62H	0.998
5:173020273:T:A	L63H	0.998
5:173020279:G:T	G65V	0.998
5:172983900:A:C	S14R	0.997
5:172983902:C:A	S14R	0.997
5:172983902:C:G	S14R	0.997
5:172994800:T:C	C44R	0.997
5:172994810:G:A	C47Y	0.997
5:172994819:T:C	L50P	0.997
5:173020255:T:C	L57P	0.997
5:173020269:C:A	P62T	0.997

dbSNP variants (sampled 300 via entrez): RS1000004994 (5:173004341 C>A), RS1000025058 (5:173008610 C>G), RS1000077364 (5:173008170 A>T), RS1000109611 (5:172995996 G>A), RS1000128985 (5:173013783 T>G), RS1000167152 (5:172983155 T>C), RS1000222706 (5:173010420 G>A), RS1000323087 (5:172989299 A>G), RS1000345888 (5:173016348 G>A), RS1000468680 (5:173010042 G>A), RS1000603173 (5:173034557 T>C), RS1000634050 (5:173034186 C>T), RS1000691793 (5:173003855 G>A), RS1000734243 (5:173015238 C>T), RS1001091071 (5:172984182 C>T)

Disease associations

OMIM: gene MIM:603931 | disease phenotypes: MIM:108900

GenCC curated gene-disease

Mondo (2): breast ductal adenocarcinoma (MONDO:0005590), atrial septal defect 7 (MONDO:0007173)

Orphanet (1): Atrial septal defect-atrioventricular conduction defects syndrome (Orphanet:1479)

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST005181_1	Body mass index	5.000000e-14
GCST010321_139	PR interval	5.000000e-55

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0004462	PR interval

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390

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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	6
sodium arsenite	decreases expression, increases expression	4
Tetrachlorodibenzodioxin	decreases expression, increases expression	3
Doxorubicin	affects cotreatment, increases expression, decreases expression	2
Rotenone	decreases expression, increases expression	2
Particulate Matter	decreases expression, increases abundance, affects cotreatment	2
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
isobutyl alcohol	decreases expression, increases abundance, affects cotreatment	1
beta-methylcholine	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
chloropicrin	affects expression	1
deguelin	decreases expression	1
pluronic block copolymer p85	affects cotreatment, increases expression	1
perfluorohexanesulfonic acid	increases expression	1
Poly(amidoamine)	decreases expression	1
Bortezomib	increases expression	1
Air Pollutants	increases abundance, decreases expression	1
Antimycin A	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Carbamazepine	affects expression	1
Coumestrol	affects cotreatment, decreases expression	1
Formaldehyde	increases expression	1
Gasoline	increases abundance, affects cotreatment, decreases expression	1
Oligomycins	affects response to substance, increases expression	1
Polychlorinated Biphenyls	affects expression	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, decreases expression, increases abundance	1
Smoke	decreases expression	1
Dronabinol	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT00461344	PHASE2	TERMINATED	Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999	PHASE2	NOT_YET_RECRUITING	Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
NCT00637364	PHASE1/PHASE2	SUSPENDED	High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain
NCT02779855	PHASE1/PHASE2	COMPLETED	Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer
NCT01753908	EARLY_PHASE1	COMPLETED	Broccoli Sprout Extract in Treating Patients With Breast Cancer
NCT01796041	EARLY_PHASE1	COMPLETED	Intraoperative Imaging of Breast Cancer With Indocyanine Green
NCT01208974	Not specified	ACTIVE_NOT_RECRUITING	Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction
NCT01875198	Not specified	TERMINATED	Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer
NCT03543397	Not specified	UNKNOWN	MRI in Ductal Carcinoma in Situ (DCIS)
NCT03834532	Not specified	COMPLETED	Living Well After Breast Surgery