CSNK2A1

Chr 20AD

casein kinase 2 alpha 1

Also known as: CK2A1, CKII, Cka1, Cka2, OCNDS

NCBI Gene: 1457 ENSG00000101266 UniProt: P68400 OMIM: 115440

The protein is the catalytic alpha subunit of casein kinase II, a serine/threonine protein kinase that phosphorylates acidic proteins and regulates cell cycle control, apoptosis, and circadian rhythm. Loss-of-function mutations cause Okur-Chung neurodevelopmental syndrome through an autosomal dominant inheritance pattern. The gene is highly intolerant to loss-of-function variants, consistent with haploinsufficiency as the disease mechanism.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

Casein kinase II 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 rhythm. The kinase exists as a tetramer and is composed of an alpha, an alpha-prime, and two beta subunits. The alpha subunits contain the catalytic activity while the beta subunits undergo autophosphorylation. The protein encoded by this gene represents the alpha subunit. Multiple transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Apr 2018]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Okur-Chung neurodevelopmental syndromeMIM #617062

Clinical highlights

Gene-disease validity (ClinGen)

syndromic intellectual disability · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Gain of function is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.30

LOEUF· LoF intol.

GOF*

Mechanism· G2P

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GeneReview available — CSNK2A1