CSNK2A2

Chr 16

casein kinase 2 alpha 2

Also known as: CK2A2, CK2alpha', CSNK2A1

NCBI Gene: 1459 ENSG00000070770 UniProt: P19784

The protein functions as a catalytic subunit of casein kinase 2, a constitutively active serine/threonine kinase that phosphorylates numerous substrates and regulates critical cellular processes including cell cycle progression, apoptosis, transcription, and DNA repair. Loss-of-function mutations in this gene cause autosomal dominant neurodevelopmental disorders, with the gene showing extreme intolerance to loss-of-function variants (pLI = 0.999, LOEUF = 0.184). The pathogenic mechanism involves haploinsufficiency, where reduced kinase activity disrupts the coordinated cellular signaling networks essential for normal neurological development.

ResearchSummary from RefSeq, UniProt, Mechanism

This gene encodes the alpha', or alpha 2, catalytic subunit of the protein kinase enzyme, casein kinase 2 (CK2). Casein kinase 2 is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. It is involved in various cellular processes, including cell cycle control, apoptosis, and circadian rhythms. This heterotetrameric kinase includes two catalytic subunits, either alpha or alpha', and two regulatory beta subunits. The closely related gene paralog encoding the alpha, or alpha 1 subunit (CSNK2A1, Gene ID: 1457) is found on chromosome 20. An intronic variant in this gene (alpha 2) may be associated with leukocyte telomere length in a South Asian population. A related transcribed pseudogene is found on chromosome 11. [provided by RefSeq, Aug 2017]

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)

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P/LP submissions

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P/LP missense

0.18

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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