PRKCQ

Chr 10

protein kinase C theta

Also known as: PRKCT, nPKC-theta

NCBI Gene: 5588 ENSG00000065675 UniProt: Q04759

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.

ResearchSummary from RefSeq, UniProt

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipid-dependent protein kinase. This kinase is important for T-cell activation. It is required for the activation of the transcription factors NF-kappaB and AP-1, and may link the T cell receptor (TCR) signaling complex to the activation of the transcription factors. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.39

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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