RPS6KA2

Chr 6

ribosomal protein S6 kinase A2

Also known as: HU-2, MAPKAPK1C, RSK, RSK3, S6K-alpha, S6K-alpha2, p90-RSK3, p90RSK2

NCBI Gene: 6196 ENSG00000071242 UniProt: Q15349

The protein is a serine/threonine kinase that acts downstream of ERK signaling to regulate transcription factors, translation, and cellular proliferation, survival, and differentiation. Mutations cause Coffin-Lowry syndrome, an X-linked intellectual disability disorder characterized by distinctive facial features, skeletal abnormalities, and progressive intellectual disability that primarily affects males. The gene shows moderate constraint against loss-of-function variants, suggesting some intolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

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]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.45

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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