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Description for Protein GJB6

gap junction protein, beta 6, 30kDa
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [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:
    K07625
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Gap junction protein, beta 6; Gap junction beta 6 protein; CX30
    Approved Symbol:
    GJB6
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; 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, autosomal recessive nonsyndromic sensorineural 1(Pd);
  • Ectodermal dysplasia, hidrotic(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 4
  • Isoform 3 : 4
  • Isoform 2 : 4
  • Isoform 1 : 4
    • Additional Identifiers:

    HPRD: 05107 Entrez Gene ID: 10804 OMIM ID: 604418 Swissprot Accession: O95452;