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Aliases for ATP6V0A4 Gene

Aliases for ATP6V0A4 Gene

  • ATPase H+ Transporting V0 Subunit A4 2 3 5
  • ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) Non-Catalytic Accessory Protein 1B 2 3
  • Vacuolar Proton Translocating ATPase 116 KDa Subunit A Kidney Isoform 3 4
  • ATPase, H+ Transporting, Lysosomal V0 Subunit A4 2 3
  • ATP6N1B 3 4
  • ATP6N2 3 4
  • ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) Non-Catalytic Accessory Protein 2 (38kD) 3
  • H(+)-Transporting Two-Sector ATPase, Noncatalytic Accessory Protein 1B 3
  • Vacuolar Proton Translocating ATPase 116 KDa Subunit A Isoform 4 4
  • ATPase, H+ Transporting, Lysosomal V0 Subunit A Isoform 4 2
  • V-Type Proton ATPase 116 KDa Subunit A Isoform 4 3
  • Vacuolar Proton Pump 116 KDa Accessory Subunit 3
  • V-Type Proton ATPase 116 KDa Subunit A 3
  • Vacuolar Proton Pump, Subunit 2 3
  • V-ATPase 116 KDa Isoform A4 4
  • V-ATPase 116 KDa 3
  • RDRTA2 3
  • RTADR 3
  • RTA1C 3
  • Stv1 3
  • Vph1 3
  • VPP2 3
  • A4 3

External Ids for ATP6V0A4 Gene

Previous HGNC Symbols for ATP6V0A4 Gene

  • ATP6N1B
  • ATP6N2
  • RTA1C

Previous GeneCards Identifiers for ATP6V0A4 Gene

  • GC07M136731
  • GC07M137791
  • GC07M137805
  • GC07M137848
  • GC07M138041
  • GC07M138391
  • GC07M132702

Summaries for ATP6V0A4 Gene

Entrez Gene Summary for ATP6V0A4 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 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. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008]

GeneCards Summary for ATP6V0A4 Gene

ATP6V0A4 (ATPase H+ Transporting V0 Subunit A4) is a Protein Coding gene. Diseases associated with ATP6V0A4 include Renal Tubular Acidosis, Distal, Autosomal Recessive and Renal Tubular Acidosis. Among its related pathways are Ion channel transport and Immune System. GO annotations related to this gene include ATPase binding and proton-transporting ATPase activity, rotational mechanism. An important paralog of this gene is MIR5010.

UniProtKB/Swiss-Prot for ATP6V0A4 Gene

  • Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urine by the kidney.

Tocris Summary for ATP6V0A4 Gene

  • H+-ATPase (also known as vacuolar ATPase, V-ATPase) is a enzyme transporter that functions to acidify intracellular compartments in eukaryotic cells. It is ubiquitously expressed and is present in endomembrane organelles such as vacuoles, lysosomes and endosomes.

Gene Wiki entry for ATP6V0A4 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V0A4 Gene

Genomics for ATP6V0A4 Gene

Regulatory Elements for ATP6V0A4 Gene

Enhancers for ATP6V0A4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F138841 0.7 ENCODE 11.5 -42.6 -42600 0.6 JUN TEAD4 BACH1 ZNF316 NFE2 MAFK L3MBTL2 NR4A1 MAFG USF2 RNU6-1272P TMEM213 ATP6V0A4 ZC3HAV1L PIR43003 GC07M138877
GH07F138717 1 FANTOM5 Ensembl ENCODE 7.9 +81.3 81332 1.4 PKNOX1 ZBTB33 ATP6V0A4 ZC3HAV1 UQCRFS1P2 TMEM213
GH07F138844 0.6 ENCODE 11.5 -44.5 -44479 0.2 PKNOX1 L3MBTL2 IKZF1 MAFG NFE2 DPF2 EMSY RNU6-1272P ATP6V0A4 TMEM213 ZC3HAV1L PIR43003 GC07M138877
GH07F138837 0.4 ENCODE 11.3 -38.8 -38766 1.3 POLR2H ZBTB33 ATP6V0A4 TMEM213 RNU6-1272P PIR43003 GC07M138877
GH07F138797 0.5 ENCODE 0.8 +1.5 1542 0.3 ZNF121 CTCF KDM1A ATP6V0A4 TMEM213
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATP6V0A4 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP6V0A4 Gene

Chromosome:
7
Start:
138,706,294 bp from pter
End:
138,799,632 bp from pter
Size:
93,339 bases
Orientation:
Minus strand

Genomic View for ATP6V0A4 Gene

Genes around ATP6V0A4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6V0A4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP6V0A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6V0A4 Gene

Proteins for ATP6V0A4 Gene

  • Protein details for ATP6V0A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HBG4-VPP4_HUMAN
    Recommended name:
    V-type proton ATPase 116 kDa subunit a isoform 4
    Protein Accession:
    Q9HBG4
    Secondary Accessions:
    • A4D1R4
    • A8KA80
    • Q32M47

    Protein attributes for ATP6V0A4 Gene

    Size:
    840 amino acids
    Molecular mass:
    96386 Da
    Quaternary structure:
    • The V-ATPase is a heteromultimeric enzyme composed of at least thirteen different subunits. It has a membrane peripheral V1 sector for ATP hydrolysis and an integral V0 for proton translocation. The V1 sector comprises subunits A-H, whereas V0 includes subunits a, d, c, c, and c.

neXtProt entry for ATP6V0A4 Gene

Post-translational modifications for ATP6V0A4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP6V0A4 Gene

No data available for DME Specific Peptides for ATP6V0A4 Gene

Domains & Families for ATP6V0A4 Gene

Gene Families for ATP6V0A4 Gene

HGNC:
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

Q9HBG4

UniProtKB/Swiss-Prot:

VPP4_HUMAN :
  • Belongs to the V-ATPase 116 kDa subunit family.
Family:
  • Belongs to the V-ATPase 116 kDa subunit family.
genes like me logo Genes that share domains with ATP6V0A4: view

Function for ATP6V0A4 Gene

Molecular function for ATP6V0A4 Gene

UniProtKB/Swiss-Prot Function:
Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urine by the kidney.

Gene Ontology (GO) - Molecular Function for ATP6V0A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12649290
GO:0015078 hydrogen ion transmembrane transporter activity IEA --
GO:0046961 proton-transporting ATPase activity, rotational mechanism IBA --
GO:0051117 ATPase binding IPI 17360703
genes like me logo Genes that share ontologies with ATP6V0A4: view
genes like me logo Genes that share phenotypes with ATP6V0A4: view

Human Phenotype Ontology for ATP6V0A4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATP6V0A4 Gene

MGI Knock Outs for ATP6V0A4:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for ATP6V0A4 Gene

Localization for ATP6V0A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP6V0A4 Gene

Apical cell membrane; Multi-pass membrane protein. Note=Present at high density almost exclusively on the apical surface of alpha-intercalated cells in the cortical collecting ducts of the distal nephron.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP6V0A4 gene
Compartment Confidence
plasma membrane 5
extracellular 5
lysosome 5
endosome 5
cytosol 3
endoplasmic reticulum 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ATP6V0A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000220 vacuolar proton-transporting V-type ATPase, V0 domain IEA --
GO:0005765 lysosomal membrane IDA 17897319
GO:0005768 endosome ISS --
GO:0005886 plasma membrane IEA,IDA 17360703
GO:0005903 brush border IEA --
genes like me logo Genes that share ontologies with ATP6V0A4: view

Pathways & Interactions for ATP6V0A4 Gene

genes like me logo Genes that share pathways with ATP6V0A4: view

Gene Ontology (GO) - Biological Process for ATP6V0A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IMP 10973252
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006885 regulation of pH IMP 10973252
GO:0007035 vacuolar acidification IBA --
genes like me logo Genes that share ontologies with ATP6V0A4: view

No data available for SIGNOR curated interactions for ATP6V0A4 Gene

Drugs & Compounds for ATP6V0A4 Gene

(20) Drugs for ATP6V0A4 Gene - From: ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Digoxin Approved Pharma 135
Esomeprazole Approved, Investigational Pharma Proton pump inhibitor 324
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
Disulfiram Approved Pharma Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 35

(2) Additional Compounds for ATP6V0A4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2

(3) Tocris Compounds for ATP6V0A4 Gene

Compound Action Cas Number
Bafilomycin A1 H+-ATPase (vacuolar) inhibitor 88899-55-2
Concanamycin A H+-ATPase (vacuolar) inhibitor 80890-47-7
Disulfiram Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 97-77-8

(14) ApexBio Compounds for ATP6V0A4 Gene

Compound Action Cas Number
(-)-Blebbistatin Non muscle myosin II ATPase inhibitor 856925-71-8
BHQ 88-58-4
Brefeldin A 20350-15-6
BTB06584 F1F0 ATP synthases 219793-45-0
Ciclopirox ethanolamine 41621-49-2
Digoxin 20830-75-5
Esomeprazole Magnesium Proton pump inhibitor 161973-10-0
Esomeprazole Sodium Proton pump inhibitor 161796-78-7
Golgicide A 1139889-93-2
Oligomycin A Mitochondrial ATP synthase Inhibitor 579-13-5
PF-03716556 Acid pump antagonist,potent and selective 928774-43-0
Sodium Orthovanadate PTP inhibitor 13721-39-6
TAK-438 Blocker of potassium-competitive acid 1260141-27-2
Zinc Pyrithione 13463-41-7
genes like me logo Genes that share compounds with ATP6V0A4: view

Transcripts for ATP6V0A4 Gene

Unigene Clusters for ATP6V0A4 Gene

ATPase, H+ transporting, lysosomal V0 subunit a4:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V0A4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^
SP1: - - -
SP2: - - - - - - -
SP3: -
SP4:
SP5: - - -

ExUns: 21 ^ 22a · 22b
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for ATP6V0A4 Gene

GeneLoc Exon Structure for
ATP6V0A4
ECgene alternative splicing isoforms for
ATP6V0A4

Expression for ATP6V0A4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATP6V0A4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP6V0A4 Gene

This gene is overexpressed in Kidney - Cortex (x27.5), Skin - Sun Exposed (Lower leg) (x7.3), and Skin - Not Sun Exposed (Suprapubic) (x6.8).

Protein differential expression in normal tissues from HIPED for ATP6V0A4 Gene

This gene is overexpressed in Plasma (34.2), Urine (19.4), and Salivary gland (12.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATP6V0A4 Gene



Protein tissue co-expression partners for ATP6V0A4 Gene

NURSA nuclear receptor signaling pathways regulating expression of ATP6V0A4 Gene:

ATP6V0A4

SOURCE GeneReport for Unigene cluster for ATP6V0A4 Gene:

Hs.98967

mRNA Expression by UniProt/SwissProt for ATP6V0A4 Gene:

Q9HBG4-VPP4_HUMAN
Tissue specificity: Expressed in adult and fetal kidney. Found in the inner ear.
genes like me logo Genes that share expression patterns with ATP6V0A4: view

Primer Products

Orthologs for ATP6V0A4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP6V0A4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP6V0A4 34 35
  • 99.44 (n)
dog
(Canis familiaris)
Mammalia ATP6V0A4 34 35
  • 88.8 (n)
cow
(Bos Taurus)
Mammalia ATP6V0A4 34 35
  • 86.49 (n)
rat
(Rattus norvegicus)
Mammalia Atp6v0a4 34
  • 84.19 (n)
mouse
(Mus musculus)
Mammalia Atp6v0a4 34 16 35
  • 83.75 (n)
oppossum
(Monodelphis domestica)
Mammalia ATP6V0A4 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP6V0A4 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP6V0A4 34
  • 74.02 (n)
lizard
(Anolis carolinensis)
Reptilia ATP6V0A4 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v0a4 34
  • 70.75 (n)
Str.10232 34
fruit fly
(Drosophila melanogaster)
Insecta Vha100-2 36 34 35
  • 58.04 (n)
Vha100-1 36 35
  • 52 (a)
Vha100-5 35
  • 49 (a)
ManyToMany
CG12602 36
  • 47 (a)
CG7678 36
  • 46 (a)
Vha100-4 35
  • 46 (a)
ManyToMany
Vha100-3 35
  • 33 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001587 34
  • 57.62 (n)
worm
(Caenorhabditis elegans)
Secernentea ZK637.8e 36
  • 51 (a)
ZK637.8f 36
  • 51 (a)
unc-32 36 35
  • 50 (a)
ZK637.8c 36
  • 50 (a)
ZK637.8d 36
  • 50 (a)
vha-5 36 35
  • 45 (a)
vha-6 35
  • 45 (a)
ManyToMany
vha-7 36 35
  • 40 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPH1 35
  • 37 (a)
ManyToMany
STV1 35
  • 33 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons VHA-A2 34
  • 52.71 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7987 34
rice
(Oryza sativa)
Liliopsida Os03g0251500 34
  • 50.63 (n)
Os.10779 34
barley
(Hordeum vulgare)
Liliopsida Hv.6065 34
wheat
(Triticum aestivum)
Liliopsida Ta.7589 34
corn
(Zea mays)
Liliopsida Zm.12750 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 65 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4414 34
Species where no ortholog for ATP6V0A4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • zebrafish (Danio rerio)

Evolution for ATP6V0A4 Gene

ENSEMBL:
Gene Tree for ATP6V0A4 (if available)
TreeFam:
Gene Tree for ATP6V0A4 (if available)

Paralogs for ATP6V0A4 Gene

Paralogs for ATP6V0A4 Gene

(5) SIMAP similar genes for ATP6V0A4 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for ATP6V0A4 Gene

genes like me logo Genes that share paralogs with ATP6V0A4: view

Variants for ATP6V0A4 Gene

Sequence variations from dbSNP and Humsavar for ATP6V0A4 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs121908368 Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722], Pathogenic 138,739,541(-) TGATC(C/T)GGTAA reference, missense
rs267606671 Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722], Pathogenic 138,706,689(-) ATGTC(A/G)GGGAT reference, missense
rs28939081 Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722], Pathogenic 138,709,633(-) CCTGC(A/G)ACTGC reference, missense
rs3807153 Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722], Pathogenic 138,733,046(-) TGAGA(C/T)GATTT reference, missense
VAR_020993 Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722]

Structural Variations from Database of Genomic Variants (DGV) for ATP6V0A4 Gene

Variant ID Type Subtype PubMed ID
nsv831154 CNV gain 17160897
nsv366558 CNV insertion 16902084
nsv1149198 CNV deletion 26484159
nsv1135987 CNV deletion 24896259
nsv1030956 CNV gain 25217958
esv8235 CNV gain 19470904
esv3615200 CNV gain 21293372
esv3615199 CNV gain 21293372
esv3615198 CNV loss 21293372
esv2735226 CNV deletion 23290073
esv2735225 CNV deletion 23290073
esv2735224 CNV deletion 23290073
esv2735223 CNV deletion 23290073
esv2735212 CNV deletion 23290073
esv1494986 CNV insertion 17803354
esv1418023 CNV deletion 17803354
esv1086375 CNV deletion 17803354
esv1054907 CNV insertion 17803354

Variation tolerance for ATP6V0A4 Gene

Residual Variation Intolerance Score: 37.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.05; 80.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP6V0A4 Gene

Human Gene Mutation Database (HGMD)
ATP6V0A4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP6V0A4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6V0A4 Gene

Disorders for ATP6V0A4 Gene

MalaCards: The human disease database

(20) MalaCards diseases for ATP6V0A4 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
renal tubular acidosis, distal, autosomal recessive
  • autosomal recessive distal renal tubular acidosis
renal tubular acidosis
  • acidosis renal tubular
renal tubular acidosis, distal
  • distal renal tubular acidosis
hyperglobulinemic purpura
  • purpura, hyperglobulinemic
medullary sponge kidney
  • cacchi ricci disease
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

VPP4_HUMAN
  • Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722]: An autosomal recessive disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. {ECO:0000269 PubMed:10973252, ECO:0000269 PubMed:12414817}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ATP6V0A4

Genetic Association Database (GAD)
ATP6V0A4
Human Genome Epidemiology (HuGE) Navigator
ATP6V0A4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP6V0A4
genes like me logo Genes that share disorders with ATP6V0A4: view

No data available for Genatlas for ATP6V0A4 Gene

Publications for ATP6V0A4 Gene

  1. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116- kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. (PMID: 10973252) Smith A.N. … Karet F.E. (Nat. Genet. 2000) 2 3 4 22 64
  2. Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients. (PMID: 21326311) Bhatnagar P. … Keefer J.R. (J. Hum. Genet. 2011) 3 46 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity. (PMID: 19639346) Andreucci E. … Pela I. (Pediatr. Nephrol. 2009) 3 22 64
  5. Function of a subunit isoforms of the V-ATPase in pH homeostasis and in vitro invasion of MDA-MB231 human breast cancer cells. (PMID: 19366680) Hinton A. … Forgac M. (J. Biol. Chem. 2009) 3 22 64

Products for ATP6V0A4 Gene

Sources for ATP6V0A4 Gene

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