RIMS2 gene

regulating synaptic membrane exocytosis 2

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

Rab effector involved in exocytosis. May act as scaffold protein. Plays a role in dendrite formation by melanocytes (PubMed:23999003).

From NCBI Gene:

  • CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE

Cytogenetic Location: 8q22.3, which is the long (q) arm of chromosome 8 at position 22.3

Molecular Location: base pairs 103,499,934 to 104,256,094 on chromosome 8 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 8q22.3, which is the long (q) arm of chromosome 8 at position 22.3
  • CRSDS
  • OBOE
  • RAB3IP3
  • RIM2