Aliases for UNC13B Gene
External Ids for UNC13B Gene
Previous HGNC Symbols for UNC13B Gene
Previous GeneCards Identifiers for UNC13B Gene
This gene is expressed in the kidney cortical epithelial cells and is upregulated by hyperglycemia. The encoded protein shares a high level of similarity to the rat homolog, and contains 3 C2 domains and a diacylglycerol-binding C1 domain. Hyperglycemia increases the levels of diacylglycerol, which has been shown to induce apoptosis in cells transfected with this gene and thus contribute to the renal cell complications of hyperglycemia. Studies in other species also indicate a role for this protein in the priming step of synaptic vesicle exocytosis. [provided by RefSeq, Jul 2008]
GeneCards Summary for UNC13B Gene
UNC13B (Unc-13 Homolog B (C. Elegans)) is a Protein Coding gene. Diseases associated with UNC13B include masa syndrome and hemophagocytic lymphohistiocytosis. Among its related pathways are Transmission across Chemical Synapses and Neurotransmitter Release Cycle. GO annotations related to this gene include signal transducer activity and diacylglycerol binding. An important paralog of this gene is RASGRP3.
UniProtKB/Swiss-Prot for UNC13B Gene
Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. Is involved in neurotransmitter release by acting in synaptic vesicle priming prior to vesicle fusion and participates in the activity-depending refilling of readily releasable vesicle pool (RRP). Essential for synaptic vesicle maturation in a subset of excitatory/glutamatergic but not inhibitory/GABA-mediated synapses (By similarity).