PRKCB

Chr 16

protein kinase C beta

Also known as: PKC-beta, PKCB, PKCI(2), PKCbeta, PRKCB1, PRKCB2

NCBI Gene: 5579 ENSG00000166501 UniProt: P05771

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.

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 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 in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase has been reported to be involved in many different cellular functions, such as B cell activation, apoptosis induction, endothelial cell proliferation, and intestinal sugar absorption. Studies in mice also suggest that this kinase may also regulate neuronal functions and correlate fear-induced conflict behavior after stress. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [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

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P/LP missense

0.08

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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