Gene: RIMS1

Alternate names for this Gene: CORD7|RAB3IP2|RIM|RIM1

Gene Summary: The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6q13

Description of this Gene: regulating synaptic membrane exocytosis 1

Type of Gene: protein-coding

rs2463709 in RIMS1 gene and Bipolar Disorder PMID 31043756 2019 Genome-wide association study identifies 30 loci associated with bipolar disorder.

rs121918302 in RIMS1 gene and Cone-Rod Dystrophy 7 PMID 12659814 2003 Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7).