CSNK2B

Chr 6AD

casein kinase 2 beta

Also known as: CK II beta, CK2B, CK2N, CSK2B, Ckb1, Ckb2, G5A, POBINDS

NCBI Gene: 1460 ENSG00000204435 UniProt: P67870 OMIM: 115441

The beta subunit of casein kinase II serves regulatory functions within this tetrameric protein kinase that controls metabolic pathways, signal transduction, transcription, translation, and replication. Mutations cause Poirier-Bienvenu neurodevelopmental syndrome through an autosomal dominant inheritance pattern. The pathogenic mechanism involves loss of function, consistent with the protein's essential regulatory role in multiple cellular processes.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes the beta subunit of casein kinase II, a ubiquitous protein kinase which regulates metabolic pathways, signal transduction, transcription, translation, and replication. The enzyme is composed of three subunits, alpha, alpha prime and beta, which form a tetrameric holoenzyme. The alpha and alpha prime subunits are catalytic, while the beta subunit serves regulatory functions. The enzyme localizes to the endoplasmic reticulum and the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Poirier-Bienvenu neurodevelopmental syndromeMIM #618732

Clinical highlights

Gene-disease validity (ClinGen)

Poirier-Bienvenu neurodevelopmental syndrome · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.38

LOEUF

LOF

Mechanism· G2P

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GeneReview available — CSNK2B