CDK11B

Chr 1

cyclin dependent kinase 11B

Also known as: CDC2L1, CDK11, CDK11-p110, CDK11-p46, CDK11-p58, CLK-1, PITSLREA, PK58

NCBI Gene: 984 ENSG00000248333 UniProt: P21127 OMIM: 176873

This gene encodes a cyclin-dependent protein kinase that regulates transcription and pre-mRNA splicing by phosphorylating key components including SF3B1 in the spliceosome and RNA polymerase II. CDK11B is highly constrained against loss-of-function variants (pLI near 1.0, LOEUF 0.678), suggesting that mutations would likely cause severe developmental consequences. However, no specific Mendelian disease has been definitively associated with CDK11B mutations in current clinical databases.

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, Apr 2014]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.68

LOEUF

Multiple*

Mechanism· predicted