RIMS3
Homo sapiens
Gene Name: regulating synaptic membrane exocytosis 3
Aliases: NIM3; RIM3; KIAA0237; RIMS3
Chromosome No: 1
Chromosome Band: 1p34.2
Genetic Category: Rare single gene variant
Aliases: NIM3; RIM3; KIAA0237; RIMS3
Chromosome No: 1
Chromosome Band: 1p34.2
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 2
Annotated variants: 7
Associated CNVs: 5
Evidence score: 3
ASD Reports: 4
Recent Reports: 2
Annotated variants: 7
Associated CNVs: 5
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Rare variants in the RIMS3 gene have been identified with autism (Kumar et al., 2010).
Molecular Function
Synaptic protein essential for vesicle fusion and normal neurotransmitter release
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism.
ASD
Highly Cited
The RIM/NIM family of neuronal C2 domain proteins. Interactions with Rab3 and a new class of Src homology 3 domain proteins.
Recent Recommendation
Rab3 interacting molecule 3 mutations associated with autism alter regulation of voltage-dependent Ca(2) channels.
Recent Recommendation
Investigation of the expression of genes affecting cytomatrix active zone function in the amygdala in schizophrenia: effects of antipsychotic drugs.
