CDK19

Chr 6AD

cyclin dependent kinase 19

Also known as: CDC2L6, CDK11, DEE87, EIEE87, bA346C16.3

NCBI Gene: 23097 ENSG00000155111 UniProt: Q9BWU1 OMIM: 614720

CDK19 encodes a component of the Mediator co-activator complex that is required for transcriptional activation of genes by RNA polymerase II. Mutations cause developmental and epileptic encephalopathy 87 through an autosomal dominant inheritance pattern via loss-of-function mechanisms.

OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a protein that is one of the components of the Mediator co-activator complex. The Mediator complex is a multi-protein complex required for transcriptional activation by DNA binding transcription factors of genes transcribed by RNA polymerase II. The protein encoded by this gene is similar to cyclin-dependent kinase 8 which can also be a component of the Mediator complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 87MIM #618916

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

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.16

LOEUF· LoF intol.

Multiple*

Mechanism· predicted