CSNK2B
Chr 6ADcasein kinase 2 beta
Also known as: CK II beta, CK2B, CK2N, CSK2B, Ckb1, Ckb2, G5A, POBINDS
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.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CSNK2B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools