ZFIN ID: ZDB-GENE-091113-4
Gene Name: ATPase H+ transporting V0 subunit a2a
Gene Symbol: atp6v0a2a    Nomenclature History

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Previous Name: si:ch211-199i18.4

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 10 Mapping Details/Browsers
Description: Predicted to have ATPase binding activity and proton-transporting ATPase activity, rotational mechanism. Predicted to be involved in vacuolar acidification. Predicted to localize to plasma membrane and vacuolar proton-transporting V-type ATPase complex. Is expressed in female organism. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IIA. Orthologous to human ATP6V0A2 (ATPase H+ transporting V0 subunit a2).
Genome Resources: Alliance (1),  Gene:561469 (1),  Ensembl(GRCz11):ENSDARG00000035538 (2)
GENE EXPRESSION
All Expression Data: Table S1 from Newman et al., 2019
Wild-type Stages, Structures: Adult (90d-730d, breeding adult) to Adult (90d-730d, breeding adult)
 
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa9960 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa18975 Point Mutation Unknown Premature Stop ENU
    sa34840 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa45390 Point Mutation Unknown Splice Site ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • PHENOTYPE No data available
    DISEASE ASSOCIATED WITH atp6v0a2a HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    autosomal recessive cutis laxa type IIA Alliance Cutis laxa, autosomal recessive, type IIA 219200
    Wrinkly skin syndrome 278250
    DISEASE ASSOCIATED WITH atp6v0a2a VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process ion transport (more)
    Cellular Component integral component of membrane (more)
    Molecular Function proton transmembrane transporter activity (more)
    GO Terms (all 12)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA atp6v0a2a-201 (1)    Ensembl 3632
    Browsers: NCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM atp6v0a2a No data available
    MARKER RELATIONSHIPS
    atp6v0a2a Contained in: [BAC] CH211-199I18 (1), CH211-251F6 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:XM_703033 (1) 3517 nt
    Genomic GenBank:BX294661 (1) 197237 nt
    Select Tool
    Polypeptide UniProtKB:E7F7W2 (1) 842 aa
    Sequence Information (all 18)
    ORTHOLOGY for atp6v0a2a ( Chr: 10 )
    CITATIONS (16)