PRKCQ
Chr 10protein kinase C theta
Also known as: PRKCT, nPKC-theta
Protein kinase C theta (PRKCQ) encodes a calcium-independent serine/threonine protein kinase that is essential for T-cell activation, proliferation, and survival by phosphorylating multiple targets including transcription factors NF-kappaB and AP-1, and also functions in platelet signaling and insulin pathway regulation. The gene is highly constrained against loss-of-function variants (LOEUF 0.391), but specific disease associations with PRKCQ mutations have not been established in the provided data. An autosomal inheritance pattern would be expected for this autosomal gene if disease-causing variants are identified.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PRKCQ · 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