Aliases for GJB2 Gene
External Ids for GJB2 Gene
Previous HGNC Symbols for GJB2 Gene
Previous GeneCards Identifiers for GJB2 Gene
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, Oct 2008]
GeneCards Summary for GJB2 Gene
GJB2 (Gap Junction Protein Beta 2) is a Protein Coding gene. Diseases associated with GJB2 include Vohwinkel Syndrome and Keratoderma, Palmoplantar, With Deafness. Among its related pathways are Development Slit-Robo signaling and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJB6.
UniProtKB/Swiss-Prot for GJB2 Gene
One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
Gap channels (gap junctions) are specialized cell-cell contacts that provide direct intracellular communication. They allow passive diffusion of molecules up to 1 kDa, including nutrients, metabolites (glucose), ions (K+, Ca2+) and second messengers (IP3, cAMP).