PRKCB
Chr 16protein kinase C beta
Also known as: PKC-beta, PKCB, PKCI(2), PKCbeta, PRKCB1, PRKCB2
The protein kinase C beta (PRKCB) gene encodes a calcium-activated serine/threonine kinase that regulates B-cell receptor signaling, insulin signaling, glucose transport, and endothelial cell function. This gene is extremely intolerant to loss-of-function variants (pLI near 1.0, LOEUF 0.081), but no specific Mendelian disease has been definitively associated with PRKCB mutations in humans. The high constraint scores suggest that mutations would likely be pathogenic if identified, but the inheritance pattern and clinical phenotype remain to be established.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
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
PRKCB · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools