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CSNK2B

Chr 6p21.33

casein kinase 2 beta

Aliases:
Ckb1, Ckb2
MANE:
ENST00000375882.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Early onset or syndromic epilepsy

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • Poirier-Bienvenu neurodevelopmental syndrome

    0.78
  • neurodegenerative disease

    0.55
  • hereditary disease

    0.54
  • autosomal dominant non-syndromic intellectual disability

    0.44
  • neurodevelopmental disorder

    0.43
  • Intellectual disability

    0.37
  • autoimmune disorder of central nervous system

    0.37
  • Alzheimer disease

    0.34
  • Parkinson disease

    0.34
  • multiple sclerosis

    0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Casein kinase II subunit beta

Regulatory subunit of casein kinase II/CK2. As part of the kinase complex regulates the basal catalytic activity of the alpha subunit a constitutively active serine/threonine-protein kinase that phosphorylates a large number of substrates containing acidic residues C-terminal to the phosphorylated serine or threonine (PubMed:11239457, PubMed:16818610). Participates in Wnt signaling (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.