CDK11A

Chr 1

cyclin dependent kinase 11A

Also known as: CDC2L2, CDC2L3, CDK11-p110, CDK11-p46, CDK11-p58, PITSLRE, p58GTA

NCBI Gene: 728642 ENSG00000008128 UniProt: Q9UQ88 OMIM: 116951

This gene encodes a cyclin-dependent protein kinase that regulates transcription and pre-mRNA splicing by phosphorylating key components of the spliceosome and RNA polymerase II. CDK11A mutations cause autosomal dominant neurodevelopmental disorder with developmental delay, intellectual disability, and seizures, with onset in infancy or early childhood. The gene shows minimal tolerance to loss-of-function variants in the general population, indicating it is highly constrained and essential for normal function.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the serine/threonine protein kinase family. Members of this kinase family are known to be essential for eukaryotic cell cycle control. Due to a segmental duplication, this gene shares very high sequence identity with a neighboring gene. These two genes are frequently deleted or altered in neuroblastoma. The protein kinase encoded by this gene can be cleaved by caspases and may play a role in cell apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.29

LOEUF

Mechanism· predicted