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Description for Protein GJB2

gap junction protein, beta 2, 26kDa
3 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [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:
    K07621
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Gap junction protein, 26 KD; Gap junction protein, beta 2; CX26
    Approved Symbol:
    GJB2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 4
    Human (de-) phosphorylation sites: 4; 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 3(Pd);
  • Deafness, neurosensory, autosomal recessive 1(Pd);
  • Keratitis-ichthyosis-deafness syndrome(Pd);
  • Keratitis-ichthyosis-deafness syndrome, autosomal dominant(Pd);
  • Keratoderma, palmoplantar, with deafness(Pd);
  • Knuckle pads, leukonychia, and sensorineural deafness(Pd);
  • Vohwinkel syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 4
    • Additional Identifiers:

    HPRD: 00413 Entrez Gene ID: 2706 OMIM ID: 121011 Swissprot Accession: P29033;