RIMS2 Chromosome 8
Regulating synaptic membrane exocytosis 2
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What This Gene Does
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]
Gene Info
Gene Group
"Regulating synaptic membrane exocytosis family|PDZ domain containing"
Locus Type
gene with protein product
Location
8q22.3
Ensembl
ENSG00000176406
Associated Conditions (3)
Cone-rod synaptic disorder
congenital nonprogressive
Cone-rod synaptic disorder syndrome
Key Variants
RS35925435
Conflicting classifications of pathogenicity
Health Risk
RS61997186
Conflicting classifications of pathogenicity
Health Risk
RS201192656
Likely pathogenic
Cone-rod synaptic disorder, congenital nonprogressive, Cone-rod synaptic disorder
Health Risk
RS1449861708
Pathogenic
Cone-rod synaptic disorder syndrome, congenital nonprogressive, Cone-rod synaptic disorder syndrome
Health Risk
RS2093332969
Pathogenic
Cone-rod synaptic disorder syndrome, congenital nonprogressive, Cone-rod synaptic disorder syndrome
Health Risk
RS2095850849
Pathogenic
Cone-rod synaptic disorder syndrome, congenital nonprogressive, Cone-rod synaptic disorder syndrome
Health Risk
RS2099199060
Pathogenic
Cone-rod synaptic disorder syndrome, congenital nonprogressive, Cone-rod synaptic disorder syndrome
Health Risk
RS2099348315
Pathogenic
Cone-rod synaptic disorder syndrome, congenital nonprogressive, Cone-rod synaptic disorder syndrome
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS35925435 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS61997186 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201192656 | Health Risk | Likely pathogenic | Cone-rod synaptic disorder, congenital nonprogressive, Cone-rod synaptic disorder |
| RS1449861708 | Health Risk | Pathogenic | Cone-rod synaptic disorder syndrome, congenital nonprogressive, Cone-rod synaptic disorder syndrome |
| RS2093332969 | Health Risk | Pathogenic | Cone-rod synaptic disorder syndrome, congenital nonprogressive, Cone-rod synaptic disorder syndrome |
| RS2095850849 | Health Risk | Pathogenic | Cone-rod synaptic disorder syndrome, congenital nonprogressive, Cone-rod synaptic disorder syndrome |
| RS2099199060 | Health Risk | Pathogenic | Cone-rod synaptic disorder syndrome, congenital nonprogressive, Cone-rod synaptic disorder syndrome |
| RS2099348315 | Health Risk | Pathogenic | Cone-rod synaptic disorder syndrome, congenital nonprogressive, Cone-rod synaptic disorder syndrome |