Aliases for GJB2 Gene
- Gap Junction Protein Beta 2 2 3 5
- Gap Junction Protein, Beta 2, 26kDa 2 3
- Gap Junction Beta-2 Protein 3 4
- Connexin 26 2 3
- Gap Junction Protein, Beta 2, 26kDa (Connexin 26) 2
- Gap Junction Protein, Beta 2, 26kD (Connexin 26) 2
- Mutant Gap Junction Beta 2 Protein 3
- Mutant Gap Junction Protein Beta 2 3
- Gap Junction Beta 2 Proteinc 3
- Connexin-26 4
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 Knuckle Pads, Leukonychia, And Sensorineural Deafness. Among its related pathways are Myometrial Relaxation and Contraction Pathways and Gap junction trafficking. Gene Ontology (GO) annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJB6.
UniProtKB/Swiss-Prot Summary for GJB2 Gene
Structural component of gap junctions (PubMed:17551008, PubMed:19340074, PubMed:21094651, PubMed:26753910, PubMed:16849369, PubMed:19384972). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane (PubMed:17551008, PubMed:19340074, PubMed:21094651, PubMed:26753910). Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (PubMed:21094651, PubMed:16849369, PubMed:19384972).
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).