RPS6KA2
Homo sapiens
Gene Name: ribosomal protein S6 kinase, 90kDa, polypeptide 2
Aliases: SK; HU-2; RSK3; p90-RSK3; pp90RSK3; MAPKAPK1C; S6K-alpha; S6K-alpha2
Chromosome No: 6
Chromosome Band: 6q27
Genetic Category: Rare Single Gene variant
Aliases: SK; HU-2; RSK3; p90-RSK3; pp90RSK3; MAPKAPK1C; S6K-alpha; S6K-alpha2
Chromosome No: 6
Chromosome Band: 6q27
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 1
Annotated variants: 4
Associated CNVs: 6
Evidence score: 2
ASD Reports: 5
Recent Reports: 1
Annotated variants: 4
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare mutations in the RPS6KA2 gene have been identified with autism (Marshall et al., 2008).
Molecular Function
This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/thr eonine kinases.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Structural variation of chromosomes in autism spectrum disorder.
ASD
Support
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
ASD
Highly Cited
RSK3 encodes a novel pp90rsk isoform with a unique N-terminal sequence: growth factor-stimulated kinase function and nuclear translocation.
Recent Recommendation
RPS6KA2, a putative tumour suppressor gene at 6q27 in sporadic epithelial ovarian cancer.
