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Description for Protein GJA5

gap junction protein, alpha 5, 40kDa
3 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
  • CNX: Connexin homologues
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K07614
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Gap junction alpha 5 protein; Gap junction protein 40 Kd; CX40; MGC11185
    Approved Symbol:
    GJA5
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Atrial fibrillation, idiopathic(Pd);
  • Atrial fibrillation, idiopathic, somatic(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 4
  • Isoform 1 : 4
    • Additional Identifiers:

    HPRD: 08699 Entrez Gene ID: 2702 OMIM ID: 121013 Swissprot Accession: P36382;