PAK2

Chr 3

p21 (RAC1) activated kinase 2

Also known as: KNO2, PAK65, PAKgamma

NCBI Gene: 5062 ENSG00000180370 UniProt: Q13177

PAK2 encodes a serine/threonine protein kinase that regulates cytoskeleton organization, cell motility, cell cycle progression, and apoptosis by acting as a downstream effector of the small GTPases CDC42 and RAC1. Mutations cause Knobloch syndrome 2, which follows autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants, indicating that proper PAK2 function is essential for normal development.

ResearchSummary from RefSeq, OMIM, UniProt

The p21 activated kinases (PAK) are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. The PAK proteins are a family of serine/threonine kinases that serve as targets for the small GTP binding proteins, CDC42 and RAC1, and have been implicated in a wide range of biological activities. The protein encoded by this gene is activated by proteolytic cleavage during caspase-mediated apoptosis, and may play a role in regulating the apoptotic events in the dying cell. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtKnobloch syndrome 2

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)

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P/LP submissions

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P/LP missense

0.32

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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