CDKL2

Chr 4

cyclin dependent kinase like 2

Also known as: KKIAMRE, P56

NCBI Gene: 8999 ENSG00000138769 UniProt: Q92772

CDKL2 encodes a serine/threonine protein kinase that localizes primarily to the cytoplasm with some nuclear presence. Mutations cause neurodevelopmental disorders with intellectual disability, seizures, and developmental delays, inherited in an autosomal dominant pattern. The gene shows relatively low constraint to loss-of-function variants, suggesting the associated phenotypes may involve diverse mutational mechanisms.

ResearchSummary from RefSeq

This gene product is a member of a large family of CDC2-related serine/threonine protein kinases. It accumulates primarily in the cytoplasm, with lower levels in the nucleus. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.43

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)