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

    Gene ID: 23545, updated on 17-Jun-2024

    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; AllianceGenome:HGNC:18481
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See ATP6V0A2 in Genome Data Viewer
    Location:
    12q24.31
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (123712353..123761755)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (123711219..123760679)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (124196900..124246302)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7273 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:124129599-124129794 Neighboring gene general transcription factor IIH subunit 3 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:124143885-124145084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7274 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:124184156-124184331 Neighboring gene tectonic family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5049 Neighboring gene uncharacterized LOC105370042 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:124206184-124206364 Neighboring gene ribosomal protein L27 pseudogene 12 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:124232793-124233992 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5050 Neighboring gene uncharacterized LOC105370044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7275 Neighboring gene dynein axonemal heavy chain 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:124383373-124383873 Neighboring gene Sharpr-MPRA regulatory region 5794 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:124401655-124402156 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:124402328-124403527 Neighboring gene uncharacterized LOC124903043

    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

    EBI GWAS Catalog

    Description
    Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables proton-transporting ATPase activity, rotational mechanism IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in Golgi lumen acidification NAS
    Non-traceable Author Statement
    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 intracellular iron ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in proton transmembrane transport NAS
    Non-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
     
    Component Evidence Code Pubs
    located_in Golgi membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in acrosomal vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in focal adhesion IDA
    Inferred from Direct Assay
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    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
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    part_of proton-transporting V-type ATPase complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of transmembrane transporter complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of vacuolar proton-transporting V-type ATPase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 a 2
    Names
    A2V-ATPase
    ATPase, H+ transporting, lysosomal V0 subunit a2
    V-ATPase 116 kDa subunit a 2
    V-ATPase 116 kDa subunit a2
    V-ATPase subunit a2
    V-type proton ATPase 116 kDa subunit a2
    lysosomal H(+)-transporting ATPase V0 subunit a 2
    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
    XP_054227591.1
    XP_054227592.1
    XP_054227593.1
    XP_054227594.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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 a 2

      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
      A8K026, Q6NUM0, 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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_024448910.2XP_024304678.1  V-type proton ATPase 116 kDa subunit a 2 isoform X1

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

      Conserved Domains (1) summary
      pfam01496
      Location:2671
      V_ATPase_I; V-type ATPase 116kDa subunit family
    3. XM_024448912.2XP_024304680.1  V-type proton ATPase 116 kDa subunit a 2 isoform X3

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      123711219..123760679
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371616.1XP_054227591.1  V-type proton ATPase 116 kDa subunit a 2 isoform X1

    2. XM_054371617.1XP_054227592.1  V-type proton ATPase 116 kDa subunit a 2 isoform X4

    3. XM_054371618.1XP_054227593.1  V-type proton ATPase 116 kDa subunit a 2 isoform X5

    4. XM_054371619.1XP_054227594.1  V-type proton ATPase 116 kDa subunit a 2 isoform X3