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ATP6V0A2 ATPase H+ transporting V0 subunit a2 [ Homo sapiens (human) ]

Gene ID: 23545, updated on 25-Nov-2021

Summary

Official Symbol
ATP6V0A2provided by HGNC
Official Full Name
ATPase H+ transporting V0 subunit a2provided by HGNC
Primary source
HGNC:HGNC:18481
See related
Ensembl:ENSG00000185344 MIM:611716
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
A2; RTF; TJ6; WSS; a2V; ARCL; J6B7; STV1; TJ6M; TJ6S; VPH1; ARCL2A; ATP6A2; ATP6N1D
Summary
The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009]
Expression
Ubiquitous expression in lymph node (RPKM 4.1), duodenum (RPKM 4.0) and 25 other tissues See more
Orthologs
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Genomic context

See ATP6V0A2 in Genome Data Viewer
Location:
12q24.31
Exon count:
21
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (123712353..123761755)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (124196900..124246302)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene general transcription factor IIH subunit 3 Neighboring gene tectonic family member 2 Neighboring gene uncharacterized LOC105370042 Neighboring gene ribosomal protein L27 pseudogene 12 Neighboring gene uncharacterized LOC105370044 Neighboring gene dynein axonemal heavy chain 10 Neighboring gene Sharpr-MPRA regulatory region 5794

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cutis laxa with osteodystrophy
MedGen: C0268355 OMIM: 219200 GeneReviews: ATP6V0A2-Related Cutis Laxa
Compare labs
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
GeneReviews: Not available
Wrinkly skin syndrome
MedGen: C0406587 OMIM: 278250 GeneReviews: ATP6V0A2-Related Cutis Laxa
Compare labs

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables proton transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in cellular iron ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular response to increased oxygen levels IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in immune response TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of macroautophagy NAS
Non-traceable Author Statement
more info
PubMed 
involved_in vacuolar acidification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in endosome membrane TAS
Traceable Author Statement
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in lysosomal membrane HDA PubMed 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in phagocytic vesicle membrane TAS
Traceable Author Statement
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of vacuolar proton-transporting V-type ATPase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of vacuolar proton-transporting V-type ATPase, V0 domain IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
V-type proton ATPase 116 kDa subunit a2
Names
A2V-ATPase
ATPase, H+ transporting, lysosomal V0 subunit a2
V-ATPase 116 kDa subunit a2
V-ATPase subunit a2
lysosomal H(+)-transporting ATPase V0 subunit a2
regeneration and tolerance factor
v-type proton ATPase 116 kDa subunit a
vacuolar proton translocating ATPase 116 kDa subunit a
NP_036595.2
XP_024304678.1
XP_024304679.1
XP_024304680.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012743.1 RefSeqGene

    Range
    5036..54438
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_012463.4NP_036595.2  V-type proton ATPase 116 kDa subunit a2

    See identical proteins and their annotated locations for NP_036595.2

    Status: REVIEWED

    Source sequence(s)
    AC117503, BC068531, BI562012, DA737084, R51339
    Consensus CDS
    CCDS9254.1
    UniProtKB/Swiss-Prot
    Q9Y487
    Related
    ENSP00000332247.2, ENST00000330342.8
    Conserved Domains (1) summary
    pfam01496
    Location:27842
    V_ATPase_I; V-type ATPase 116kDa subunit family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    123712353..123761755
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448910.1XP_024304678.1  V-type proton ATPase 116 kDa subunit a2 isoform X1

    Conserved Domains (1) summary
    pfam01496
    Location:27802
    V_ATPase_I; V-type ATPase 116kDa subunit family
  2. XM_024448911.1XP_024304679.1  V-type proton ATPase 116 kDa subunit a2 isoform X2

    Conserved Domains (1) summary
    pfam01496
    Location:2671
    V_ATPase_I; V-type ATPase 116kDa subunit family
  3. XM_024448912.1XP_024304680.1  V-type proton ATPase 116 kDa subunit a2 isoform X3

    Conserved Domains (1) summary
    pfam01496
    Location:1568
    V_ATPase_I; V-type ATPase 116kDa subunit family
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