Aliases for RIMS2 Gene
External Ids for RIMS2 Gene
Previous HGNC Symbols for RIMS2 Gene
Previous GeneCards Identifiers for RIMS2 Gene
The protein encoded by this gene is a presynaptic protein that interacts with RAB3, a protein important for normal neurotransmitter release. The encoded protein can also bind several other synaptic proteins, including UNC-13 homolog B, ELKS/Rab6-interacting/CAST family member 1, and synaptotagmin 1. This protein is involved in synaptic membrane exocytosis. Polymorphisms in this gene have been associated with degenerative lumbar scoliosis. [provided by RefSeq, Feb 2017]
GeneCards Summary for RIMS2 Gene
RIMS2 (Regulating Synaptic Membrane Exocytosis 2) is a Protein Coding gene. Diseases associated with RIMS2 include Focal Hand Dystonia and Dravet Syndrome. Among its related pathways are Insulin secretion. GO annotations related to this gene include protein heterodimerization activity and ion channel binding. An important paralog of this gene is RIMS1.
UniProtKB/Swiss-Prot for RIMS2 Gene
Rab effector involved in exocytosis. May act as scaffold protein. Plays a role in dendrite formation by melanocytes (PubMed:23999003).