RPS6KA2 Chromosome 6
Ribosomal protein S6 kinase A2
Upload your DNA to see your personal genotypes for variants in RPS6KA2.
What This Gene Does
This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains two non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternative splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
"MAPK activated protein kinases|MicroRNA protein coding host genes|Ribosomal protein S6 kinase family"
Locus Type
gene with protein product
Location
6q27
Ensembl
ENSG00000071242
Associated Conditions (1)
Autism spectrum disorder
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1254821821 | Health Risk | association | Autism spectrum disorder, Autism spectrum disorder |