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) 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 Myometrial Relaxation and Contraction Pathways and Transmission across Chemical Synapses. GO annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJC2.
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).