Aliases for GJD2 Gene
External Ids for GJD2 Gene
Previous HGNC Symbols for GJD2 Gene
Previous GeneCards Identifiers for GJD2 Gene
This gene encodes a member of the connexin protein family. Connexins are gap junction proteins which are arranged in groups of 6 around a central pore to form a connexon, a component of the gap junction intercellular channel. The channels formed by this protein allow cationic molecule exchange between human beta cells and may function in the regulation of insulin secretion. [provided by RefSeq, Oct 2012]
GeneCards Summary for GJD2 Gene
GJD2 (Gap Junction Protein, Delta 2, 36kDa) is a Protein Coding gene. Diseases associated with GJD2 include refractive error and epilepsy, generalized, with febrile seizures plus, type 5. Among its related pathways are Vesicle-mediated transport and Myometrial Relaxation and Contraction Pathways. GO annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJB3.
UniProtKB/Swiss-Prot for GJD2 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).