RBMS3
Homo sapiens
Gene Name: RNA binding motif, single stranded interacting protein 3
Aliases: FLJ36544
Chromosome No: 3
Chromosome Band: 3p24.1
Genetic Category: Rare Single Gene variant
Aliases: FLJ36544
Chromosome No: 3
Chromosome Band: 3p24.1
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 5
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare mutations in the RBMS3 gene have been identified with autism (O'Roak et al., 2011).
Molecular Function
Binds poly-A and poly-U oligoribonucleotides
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
ASD
Support
Both rare and common genetic variants contribute to autism in the Faroe Islands.
ASD
Highly Cited
RNA-binding protein RBMS3 is expressed in activated hepatic stellate cells and liver fibrosis and increases expression of transcription factor Prx1.