Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	50617
Gene name Gene Name - the full gene name approved by the HGNC.	ATPase H+ transporting V0 subunit a4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ATP6V0A4
Synonyms (NCBI Gene) Gene synonyms aliases	A4, ATP6N1B, ATP6N2, DRTA3, RDRTA2, RTA1C, RTADR, STV1, VPH1, VPP2
Disease Acronyms (UniProt) Disease acronyms from UniProt database	DRTA3
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q34
Summary Summary of gene provided in NCBI Entrez Gene.	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 sor

Show/Hide all(21)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28939081	C>T	Pathogenic	Missense variant, coding sequence variant
rs121908367	G>A	Pathogenic	Coding sequence variant, stop gained
rs121908369	A>T	Pathogenic	Coding sequence variant, stop gained
rs267606671	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs587776615	C>T	Pathogenic	Splice donor variant
rs587776616	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs587776617	C>T	Pathogenic	Splice acceptor variant
rs753232747	->A	Likely-pathogenic	Splice donor variant
rs754517968	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs763982675	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs769164245	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs779869631	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs934266733	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064796145	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064796270	C>-	Pathogenic	Splice donor variant, coding sequence variant
rs1252623454	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1443883930	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1445362077	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1450564765	C>T	Pathogenic	Splice donor variant
rs1584907924	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1584934951	AGTTC>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT2178022	hsa-miR-3667-3p	CLIP-seq
MIRT2178023	hsa-miR-4762-5p	CLIP-seq

Show/Hide all(27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000220	Component	Vacuolar proton-transporting V-type ATPase, V0 domain	IEA
GO:0001503	Process	Ossification	IMP	10973252
GO:0005515	Function	Protein binding	IPI	12649290, 18632794, 32814053
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005768	Component	Endosome	ISS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	17360703
GO:0006885	Process	Regulation of pH	IMP	10973252
GO:0007035	Process	Vacuolar acidification	IBA	21873635
GO:0007588	Process	Excretion	IMP	12414817
GO:0007605	Process	Sensory perception of sound	IMP	12414817
GO:0008286	Process	Insulin receptor signaling pathway	TAS
GO:0010008	Component	Endosome membrane	TAS
GO:0016021	Component	Integral component of membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	10973252, 12649290, 15800125
GO:0016471	Component	Vacuolar proton-transporting V-type ATPase complex	IDA	10973252
GO:0030670	Component	Phagocytic vesicle membrane	TAS
GO:0031526	Component	Brush border membrane	IDA	14638902
GO:0033572	Process	Transferrin transport	TAS
GO:0034220	Process	Ion transmembrane transport	TAS
GO:0045177	Component	Apical part of cell	IDA	14638902, 14675051
GO:0046961	Function	Proton-transporting ATPase activity, rotational mechanism	IBA	21873635
GO:0051117	Function	ATPase binding	IBA	21873635
GO:0051117	Function	ATPase binding	IPI	17360703
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708
GO:0090383	Process	Phagosome acidification	TAS
GO:1902600	Process	Proton transmembrane transport	IMP	10973252

MIM	HGNC	e!Ensembl
605239	866	ENSG00000105929

Protein

UniProt ID

Q9HBG4

Protein name

V-type proton ATPase 116 kDa subunit a 4 (V-ATPase 116 kDa isoform a 4) (Vacuolar proton translocating ATPase 116 kDa subunit a isoform 4) (Vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform)

Protein 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 (By similarity). V-ATPase is responsible

PDB

7UNF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01496	V_ATPase_I	27 → 830	V-type ATPase 116kDa subunit family	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in adult and fetal kidney. Found in the inner ear. {ECO:0000269|PubMed:12414817}.

Sequence

MVSVFRSEEMCLSQLFLQVEAAYCCVAELGELGLVQFKDLNMNVNSFQRKFVNEVRRCES
LERILRFLEDEMQNEIVVQLLEKSPLTPLPREMITLETVLEKLEGELQEANQNQQALKQS
FLELTELKYLLKKTQDFFETETNLADDFFTEDTSGLLELKAVPAYMTGKLGFIAGVINRE
RMASFERLLWRICRGNVYLKFSEMDAPLEDPVTKEEIQKNIFIIFYQGEQLRQKIKKICD
GFRATVYPCPEPAVERREMLESVNVRLEDLITVITQTESHRQRLLQEAAANWHSWLIKVQ
KMKAVYHILNMCNIDVTQQCVIAEIWFPVADATRIKRALEQGMELSGSSMAPIMTTVQSK
TAPPTFNRTNKFTAGFQNIVDAYGVGSYREINPAPYTIITFPFLFAVMFGDCGHGTVMLL
AALWMILNERRLLSQKTDNEIWNTFFHGRYLILLMGIFSIYTGLIYNDCFSKSLNIFGSS
WSVQPMFRNGTWNTHVMEESLYLQLDPAIPGVYFGNPYPFGIDPIWNLASNKLTFLNSYK
MKMSVILGIVQMVFGVILSLFNHIYFRRTLNIILQFIPEMIFILCLFGYLVFMIIFKWCC
FDVHVSQHAPSILIHFINMFLFNYSDSSNAPLYKHQQEVQSFFVVMALISVPWMLLIKPF
ILRASHRKSQLQASRIQEDATENIEGDSSSPSSRSGQRTSADTHGALDDHGEEFNFGDVF
VHQAIHTIEYCLGCISNTASYLRLWALSLAHAQLSEVLWTMVMNSGLQTRGWGGIVGVFI
IFAVFAVLTVAILLIMEGLSAFLHALRLHWVEFQNKFYVGDGYKFSPFSFKHILDGTAEE

Sequence length

840

Interactions

View interactions

	KEGG		Reactome
	Oxidative phosphorylation Metabolic pathways Lysosome Phagosome Synaptic vesicle cycle Collecting duct acid secretion Vibrio cholerae infection Epithelial cell signaling in Helicobacter pylori infection Tuberculosis Human papillomavirus infection Rheumatoid arthritis		ROS and RNS production in phagocytes Insulin receptor recycling Transferrin endocytosis and recycling Ion channel transport

Show/Hide Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
Distal renal tubular acidosis	Distal Renal Tubular Acidosis	rs121964880, rs769664228, rs121912744, rs121912745, rs121912746, rs121912748, rs121912751, rs878853002, rs781838938, rs782152033, rs1443883930
Renal tubular acidosis	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, Autosomal recessive distal renal tubular acidosis	rs121908367, rs28939081, rs769664228, rs121912745, rs121912748, rs121912751, rs121912752, rs28931584, rs121912754, rs878853002, rs763982675, rs769164245, rs768446132, rs1443883930, rs754517968 View all (5 more)	12414817, 16611712, 23729491, 10973252, 29311258, 27247958, 23754897, 26208211
Renal tubular acidosis with sensorineural hearing loss	Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss	rs121908367, rs587776615, rs587776616, rs587776617, rs2117291505, rs121908369, rs28939081, rs763982675, rs769164245, rs773840097, rs1252623454, rs1443883930, rs754517968, rs1584907924, rs753232747

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Distal Renal Tubular Acidosis	renal tubular acidosis, distal, 3, with or without sensorineural hearing loss			GenCC

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text Mining
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency	Associate	24975934
Acidosis Renal Tubular	Associate	12414817, 24252324, 24564331, 24975934, 26208211, 26571219, 28188436, 28233610, 29202719, 29627839, 30230413, 30558562, 31348261, 31959358, 32123165, 38445406, 40775604 View all (2 more)
Breast Neoplasms	Associate	30961553
Cysts	Associate	28188436
Deafness	Associate	12414817
Diabetes Mellitus	Associate	40775604
Diabetic Nephropathies	Associate	40775604
Disease	Associate	28233610
Fanconi Syndrome	Associate	28188436, 40775604
Growth Disorders	Associate	38445406
Hearing Loss	Associate	10577919, 12414817
Hearing Loss Sensorineural	Associate	24564331, 24975934
Intestinal Pseudo Obstruction	Associate	30961553
Kidney Calculi	Associate	32123165
Kidney Diseases	Associate	26208211, 36408280, 40775604
Neoplasm Metastasis	Stimulate	30961553
Neoplasms	Associate	30961553
Neoplasms Cystic Mucinous and Serous	Associate	37848412
Nephrocalcinosis	Associate	29202719
Renal Insufficiency Chronic	Associate	28233610, 40775604
Renal tubular acidosis distal autosomal recessive	Associate	10577919, 12414817, 29202719
Venous Thromboembolism	Associate	39729750

ATP6V0A4 (ATPase H+ transporting V0 subunit a4)