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Description for Protein GJB3

gap junction protein, beta 3, 31kDa
1 total interacting proteins; 1 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 can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K07622
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Gap junction beta-3 protein; Gap junction protein, beta 3; Gap junction protein, 31kDa; Cx31; FLJ22486; MGC102938; DFNA2; EKV
    Approved Symbol:
    GJB3
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 1
    Human (de-) phosphorylation sites: 1; 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:

  • Deafness, autosomal dominant nonsyndromic sensorineural 2(Pd);
  • Deafness, autosomal dominant, with peripheral neuropathy(Pd);
  • Deafness, autosomal recessive(Pd);
  • Erythrokeratodermia variabilis(Pd);
  • Erythrokeratodermia variabilis, autosomal recessive(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 4
  • Isoform 1 : 4
    • Additional Identifiers:

    HPRD: 04505 Entrez Gene ID: 2707 OMIM ID: 603324 Swissprot Accession: O75712;