ATP6V1D

Summary

ATP6V1D (ATPase H+ transporting V1 subunit D, HGNC:13527) is a protein-coding gene on chromosome 14q23.3, encoding V-type proton ATPase subunit D (Q9Y5K8). 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. It is a selective cancer dependency (DepMap: 84.4% 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 gene encodes the V1 domain D subunit protein.

Source: NCBI Gene 51382 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 26 total
• Cancer dependency (DepMap): dependent in 84.4% of screened cell lines
• MANE Select transcript: NM_015994

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13527
Approved symbol	ATP6V1D
Name	ATPase H+ transporting V1 subunit D
Location	14q23.3
Locus type	gene with protein product
Status	Approved
Aliases	VATD, VMA8
Ensembl gene	ENSG00000100554
Ensembl biotype	protein_coding
OMIM	609398
Entrez	51382

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 8 protein_coding, 3 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000216442, ENST00000553408, ENST00000553687, ENST00000553974, ENST00000554087, ENST00000554236, ENST00000555012, ENST00000555335, ENST00000555431, ENST00000555474, ENST00000555625, ENST00000555723, ENST00000556058, ENST00000557244

RefSeq mRNA: 1 — MANE Select: NM_015994 NM_015994

CCDS: CCDS9780

Canonical transcript exons

ENST00000216442 — 9 exons

Exon	Start	End
ENSE00000658588	67349037	67349104
ENSE00002463100	67359658	67359804
ENSE00003467506	67347409	67347453
ENSE00003514294	67343372	67343438
ENSE00003633107	67350611	67350690
ENSE00003639091	67340440	67340518
ENSE00003646261	67345768	67345871
ENSE00003663238	67352923	67353040
ENSE00003846815	67337872	67338762

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 99.26.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 60.0522 / max 1506.8661, expressed in 1814 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
143730	52.4836	1813
143731	6.2025	1622
143729	0.7695	387
143728	0.5966	236

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	99.26	gold quality
middle temporal gyrus	UBERON:0002771	99.06	gold quality
Brodmann (1909) area 23	UBERON:0013554	98.98	gold quality
esophagus squamous epithelium	UBERON:0006920	98.82	gold quality
pons	UBERON:0000988	98.70	gold quality
epithelium of esophagus	UBERON:0001976	98.59	gold quality
lateral nuclear group of thalamus	UBERON:0002736	98.59	gold quality
squamous epithelium	UBERON:0006914	98.46	gold quality
prefrontal cortex	UBERON:0000451	98.33	gold quality
cervix squamous epithelium	UBERON:0006922	98.18	gold quality
Brodmann (1909) area 9	UBERON:0013540	98.15	gold quality
adrenal tissue	UBERON:0018303	98.09	gold quality
substantia nigra pars compacta	UBERON:0001965	98.05	gold quality
nephron tubule	UBERON:0001231	98.04	gold quality
superior vestibular nucleus	UBERON:0007227	98.04	gold quality
right adrenal gland cortex	UBERON:0035827	98.02	gold quality
right adrenal gland	UBERON:0001233	97.94	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	97.93	gold quality
entorhinal cortex	UBERON:0002728	97.90	gold quality
gingival epithelium	UBERON:0001949	97.87	gold quality
gingiva	UBERON:0001828	97.86	gold quality
substantia nigra pars reticulata	UBERON:0001966	97.84	gold quality
parietal lobe	UBERON:0001872	97.77	gold quality
postcentral gyrus	UBERON:0002581	97.76	gold quality
orbitofrontal cortex	UBERON:0004167	97.76	gold quality
hypothalamus	UBERON:0001898	97.72	gold quality
primary visual cortex	UBERON:0002436	97.72	gold quality
type B pancreatic cell	CL:0000169	97.70	gold quality
superior frontal gyrus	UBERON:0002661	97.68	gold quality
occipital lobe	UBERON:0002021	97.63	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-114	yes	10.53
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

88 targeting ATP6V1D, 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-4481	100.00	66.42	1669
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-548J-5P	99.94	71.14	3489
HSA-MIR-548O-5P	99.94	71.24	3488

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 84.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 1)

• Top single-nucleotide polymorphism rs9590614 in VMA8 is located within genes that function in cell-cell signaling and cell migration. (PMID:25006744)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	atp6v1d	ENSDARG00000011175
mus_musculus	Atp6v1d	ENSMUSG00000021114
rattus_norvegicus	Atp6v1d	ENSRNOG00000009080
drosophila_melanogaster	Vha36-1	FBGN0022097
drosophila_melanogaster	Vha36-3	FBGN0040377
caenorhabditis_elegans		WBGENE00010130

Protein

Protein identifiers

V-type proton ATPase subunit D — Q9Y5K8 (reviewed: Q9Y5K8)

Alternative names: V-ATPase 28 kDa accessory protein, Vacuolar proton pump subunit D

All UniProt accessions (10): Q9Y5K8, G3V2S6, G3V2V6, G3V341, G3V3T8, G3V559, G3V5S7, H0YJ55, H0YJH8, H0YJS0

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. May play a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium.

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 SNX10.

Subcellular location. Membrane. Cytoplasmic vesicle. Clathrin-coated vesicle membrane. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Cell projection. Cilium.

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

RefSeq proteins (1): NP_057078* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002699	V_ATPase_D	Family

Pfam: PF01813

UniProt features (9 total): helix 4, strand 3, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
6WLZ	ELECTRON MICROSCOPY	2.9
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-Q9Y5K8-F1	86.57	0.65

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-1222556	ROS and RNS production in phagocytes
R-HSA-6798695	Neutrophil degranulation
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: 300 (showing top): REACTOME_SIGNALING_BY_INSULIN_RECEPTOR, GOBP_REGULATION_OF_AUTOPHAGY, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_ENDOSOME_ORGANIZATION, GOBP_VACUOLE_ORGANIZATION, GOCC_VACUOLAR_MEMBRANE, GOCC_SECRETORY_GRANULE, GOBP_VESICLE_ORGANIZATION, GOBP_PROTEIN_LOCALIZATION_TO_CILIUM, XU_HGF_TARGETS_REPRESSED_BY_AKT1_DN, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, CAGCTG_AP4_Q5

GO Biological Process (12): vacuolar acidification (GO:0007035), lysosomal lumen acidification (GO:0007042), regulation of macroautophagy (GO:0016241), endosomal lumen acidification (GO:0048388), intracellular pH reduction (GO:0051452), cilium assembly (GO:0060271), protein localization to cilium (GO:0061512), Golgi lumen acidification (GO:0061795), synaptic vesicle lumen acidification (GO:0097401), proton transmembrane transport (GO:1902600), monoatomic ion transport (GO:0006811), cell projection organization (GO:0030030)

GO Molecular Function (2): proton-transporting ATPase activity, rotational mechanism (GO:0046961), protein binding (GO:0005515)

GO Cellular Component (19): Golgi membrane (GO:0000139), vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221), nucleoplasm (GO:0005654), lysosomal membrane (GO:0005765), centrosome (GO:0005813), cytosol (GO:0005829), plasma membrane (GO:0005886), cilium (GO:0005929), endosome membrane (GO:0010008), membrane (GO:0016020), clathrin-coated vesicle membrane (GO:0030665), proton-transporting V-type ATPase complex (GO:0033176), specific granule membrane (GO:0035579), extracellular exosome (GO:0070062), extrinsic component of synaptic vesicle membrane (GO:0098850), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cytoplasmic vesicle (GO:0031410), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Innate Immune System	2
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
cellular anatomical structure	5
intracellular pH reduction	3
bounding membrane of organelle	2
cytoplasm	2
vacuolar acidification	1
regulation of autophagy	1
macroautophagy	1
endosome organization	1
regulation of intracellular pH	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
protein localization to organelle	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
monoatomic cation transmembrane transport	1
transport	1
cellular component organization	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
Golgi apparatus	1
vacuole	1
vacuolar proton-transporting V-type ATPase complex	1
proton-transporting V-type ATPase, V1 domain	1
nuclear lumen	1
lysosome	1
lytic vacuole membrane	1
centriole	1
microtubule organizing center	1

Protein interactions and networks

STRING

1476 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATP6V1D	ATP6V1F	Q16864	940
ATP6V1D	ATP6V1A	P38606	872
ATP6V1D	ATP6V1B2	P21281	866
ATP6V1D	ATP6V1C1	P21283	853
ATP6V1D	ATP6V1E2	Q96A05	842
ATP6V1D	ATP6V0D1	P12953	839
ATP6V1D	ATP6V1G1	O75348	837
ATP6V1D	ATP6V1E1	P36543	833
ATP6V1D	ATP6V1B1	P15313	830
ATP6V1D	ATP4A	P20648	828
ATP6V1D	ATP6V1C2	Q8NEY4	823
ATP6V1D	ATP6V0C	P27449	820
ATP6V1D	ATP12A	P54707	818
ATP6V1D	ATP6V1G3	Q96LB4	806
ATP6V1D	ATP6V1H	Q9UI12	794

IntAct

122 interactions, top by confidence:

A	B	Type	Score
UBA5	GABARAPL2	psi-mi:“MI:0914”(association)	0.950
BBLN	ATP6V1D	psi-mi:“MI:0915”(physical association)	0.780
ATP6V1D	BBLN	psi-mi:“MI:0915”(physical association)	0.780
ATP6V1F	ATP6V1D	psi-mi:“MI:0915”(physical association)	0.740
ATP6V1D	VPS52	psi-mi:“MI:0915”(physical association)	0.720
VPS52	ATP6V1D	psi-mi:“MI:0915”(physical association)	0.720
NDUFA13	NDUFS8	psi-mi:“MI:0914”(association)	0.640
TCIRG1	ATP6AP2	psi-mi:“MI:0914”(association)	0.640
KRT27	ATP6V1D	psi-mi:“MI:0915”(physical association)	0.560
HAUS1	ATP6V1D	psi-mi:“MI:0915”(physical association)	0.560
NDC80	ATP6V1D	psi-mi:“MI:0915”(physical association)	0.560
DEFA5	NUDT19	psi-mi:“MI:0914”(association)	0.530
COG6	EXOC5	psi-mi:“MI:0914”(association)	0.530
UBA5	GAPDHS	psi-mi:“MI:0914”(association)	0.530
TNFRSF8	DAPK3	psi-mi:“MI:0914”(association)	0.530
SPINK2	STRN	psi-mi:“MI:0914”(association)	0.530
ATP6V0A2	B4GALT3	psi-mi:“MI:0914”(association)	0.530
MARCKSL1	NMT2	psi-mi:“MI:0914”(association)	0.530
ATP6AP2	ATP6V1C1	psi-mi:“MI:0914”(association)	0.530
FXYD1	GCHFR	psi-mi:“MI:0914”(association)	0.530
SYNGAP1	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
ATP6V0A1	ATP6V1G1	psi-mi:“MI:0914”(association)	0.530
ATP6V1A	ATP6V1G1	psi-mi:“MI:0914”(association)	0.530
ATP6V1B2	ATP6V1G1	psi-mi:“MI:0914”(association)	0.530

BioGRID (182): ATP6V1D (Two-hybrid), ATP6V1D (Two-hybrid), C9orf16 (Two-hybrid), ATP6V1D (Affinity Capture-MS), ATP6V1D (Affinity Capture-MS), ATP6V1D (Affinity Capture-MS), AIMP2 (Co-fractionation), ATP6V0D1 (Co-fractionation), ATP6V1A (Co-fractionation), ATP6V1B2 (Co-fractionation), ATP6V1D (Co-fractionation), ATP6V1D (Co-fractionation), ATP6V1D (Co-fractionation), ATP6V1D (Co-fractionation), ATP6V1D (Co-fractionation)

ESM2 similar proteins: A2RC99, A3CK50, A3DHP2, A5UKB0, A6VFZ4, A7GGL2, A8AUJ9, A9AAQ2, B0B7M2, B0BBT7, B0K5I8, B0K8E6, B2TP89, B2UWY2, B5XJH5, C1CXU5, O59823, O59941, O84308, O97755, P0DA00, P0DA01, P32610, P34462, P39942, P43435, P57746, P57747, P87220, Q184E4, Q1IWP5, Q3KM56, Q5RCS8, Q5XE48, Q5ZKI4, Q60188, Q61IU3, Q6GQI5, Q822K0, Q834X7

Diamond homologs: A0PZC8, A2RC99, A3CK50, A3DHP2, A4FXD2, A5UKB0, A6UP56, A6UT37, A6VFZ4, A7FWQ5, A7GGL2, A7HDG7, A7IAU6, A8AUJ9, A9AAQ2, B0K5I8, B0K8E6, B0R751, B1ICC7, B1IJM6, B1KXT4, B2IP45, B2TP89, B2UWY2, B4UH37, B5E550, B5XJH5, B6YV16, B8JE33, B8ZK29, B9K815, B9LS43, C1CES0, C1CXU5, C1FTN5, C3L1A9, C5A338, C6A5E6, O06506, O27034

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ATP6V1D	“form complex”	V-ATPase	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 115 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
Regulation of MITF-M-dependent genes involved in lysosome biogenesis and autophagy	10	78.1×	7e-16
Insulin receptor recycling	15	66.4×	3e-22
Transferrin endocytosis and recycling	15	64.2×	3e-22
ROS and RNS production in phagocytes	15	58.6×	1e-21
Amino acids regulate mTORC1	14	32.6×	5e-16
Ion channel transport	15	16.7×	8e-13

GO biological processes:

GO term	Partners	Fold	FDR
synaptic vesicle lumen acidification	12	108.0×	2e-20
vacuolar acidification	12	84.5×	9e-19
lysosomal lumen acidification	7	45.4×	1e-08
proton transmembrane transport	13	39.0×	2e-15
regulation of macroautophagy	13	37.0×	4e-15
ATP metabolic process	6	27.0×	8e-06
intracellular iron ion homeostasis	5	11.7×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	17
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2220 predictions. Top by Δscore:

Variant	Effect	Δscore
14:67301384:CTTA:C	acceptor_loss	1.0000
14:67301386:TAGGT:T	acceptor_loss	1.0000
14:67301387:A:AG	acceptor_gain	1.0000
14:67301387:A:C	acceptor_loss	1.0000
14:67301388:G:GG	acceptor_gain	1.0000
14:67301388:G:GT	acceptor_loss	1.0000
14:67301462:TTCAG:T	donor_loss	1.0000
14:67301463:TCAGG:T	donor_loss	1.0000
14:67301464:CAG:C	donor_loss	1.0000
14:67301465:AGGTA:A	donor_loss	1.0000
14:67301466:GGTAG:G	donor_loss	1.0000
14:67301467:GTAG:G	donor_loss	1.0000
14:67301468:T:G	donor_loss	1.0000
14:67302115:GTTG:G	donor_gain	1.0000
14:67302119:G:C	donor_loss	1.0000
14:67302119:G:GG	donor_gain	1.0000
14:67302120:T:TC	donor_loss	1.0000
14:67302121:AAGT:A	donor_loss	1.0000
14:67302401:T:G	acceptor_gain	1.0000
14:67302405:TTTA:T	acceptor_loss	1.0000
14:67302406:TTAG:T	acceptor_loss	1.0000
14:67302408:A:AG	acceptor_gain	1.0000
14:67302408:AG:A	acceptor_gain	1.0000
14:67302409:G:A	acceptor_gain	1.0000
14:67302409:G:GG	acceptor_gain	1.0000
14:67302409:GGGT:G	acceptor_gain	1.0000
14:67302568:GTTG:G	donor_gain	1.0000
14:67302570:TGGTA:T	donor_loss	1.0000
14:67302571:GGTAA:G	donor_loss	1.0000
14:67302572:G:GG	donor_gain	1.0000

AlphaMissense

1603 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:67338756:C:A	K203N	1.000
14:67338756:C:G	K203N	1.000
14:67340455:C:G	R196P	1.000
14:67340470:A:G	L191P	1.000
14:67343383:G:T	A171D	1.000
14:67343384:C:G	A171P	1.000
14:67343393:G:T	R168S	1.000
14:67345772:A:G	L151P	1.000
14:67345778:G:T	A149D	1.000
14:67347453:C:T	G103D	1.000
14:67349037:C:G	G103R	1.000
14:67350636:C:G	A72P	1.000
14:67350657:C:G	A65P	1.000
14:67350686:T:A	K55I	1.000
14:67352973:A:G	S37P	1.000
14:67352984:A:G	L33P	1.000
14:67352987:A:G	L32P	1.000
14:67352996:C:T	G29D	1.000
14:67338758:T:C	K203E	0.999
14:67338762:C:A	R201S	0.999
14:67338762:C:G	R201S	0.999
14:67340440:C:A	R201M	0.999
14:67340440:C:G	R201T	0.999
14:67340445:G:C	F199L	0.999
14:67340445:G:T	F199L	0.999
14:67340447:A:G	F199L	0.999
14:67340491:A:G	L184P	0.999
14:67340510:G:A	P178S	0.999
14:67343380:A:T	I172N	0.999
14:67343385:A:C	N170K	0.999

dbSNP variants (sampled 300 via entrez): RS1000145660 (14:67337458 A>G), RS1000200965 (14:67354008 C>T), RS1000238844 (14:67358168 C>G,T), RS1000519060 (14:67359244 G>A), RS1000571710 (14:67359522 G>C), RS1000732334 (14:67342691 A>C), RS1000732727 (14:67353207 T>C), RS1000899111 (14:67345624 C>G), RS1000946932 (14:67354473 T>C), RS1000988344 (14:67347653 A>G), RS1001005959 (14:67338431 T>C), RS1001189116 (14:67356339 T>C), RS1001217377 (14:67341262 T>C), RS1001406156 (14:67349787 G>C), RS1001451267 (14:67342263 T>G)

Disease associations

OMIM: gene MIM:609398 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

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	affects expression, increases expression	3
bisphenol A	decreases expression	2
sodium arsenite	increases expression	2
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, decreases expression	2
GSK-J4	increases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
deoxynivalenol	decreases expression	1
trichostatin A	affects expression	1
beta-lapachone	decreases expression, increases expression	1
arsenite	affects binding, increases reaction	1
cupric oxide	increases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
beta-methylcholine	affects expression	1
chloropicrin	affects expression	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
jinfukang	decreases expression	1
picoxystrobin	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Vorinostat	increases expression	1
Acetaminophen	increases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Caffeine	decreases phosphorylation	1
Doxorubicin	increases expression	1
Ethyl Methanesulfonate	increases expression	1
Hydrogen Peroxide	affects expression	1

Clinical trials (associated diseases)

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