CDK13

Chr 7AD

cyclin dependent kinase 13

Also known as: CDC2L, CDC2L5, CHDFIDD, CHED, hCDK13

NCBI Gene: 8621 ENSG00000065883 UniProt: Q14004 OMIM: 603309

The protein is a cyclin-dependent serine/threonine kinase that localizes to nuclear speckles and likely functions in mRNA processing. Loss-of-function mutations cause an autosomal dominant syndrome characterized by congenital heart defects, dysmorphic facial features, and intellectual developmental disorder. The gene is highly intolerant to loss-of-function variants, supporting haploinsufficiency as the disease mechanism.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

The protein encoded by this gene is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. The exact function of this protein has not yet been determined, but it may play a role in mRNA processing and may be involved in regulation of hematopoiesis. Alternatively spliced transcript variants have been described.[provided by RefSeq, Dec 2009]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Congenital heart defects, dysmorphic facial features, and intellectual developmental disorderMIM #617360

Clinical highlights

Gene-disease validity (ClinGen)

syndromic intellectual disability · ADDefinitivesufficient evidence for diagnostic panels

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.32

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

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GeneReview available — CDK13