CDK16

Chr X

cyclin dependent kinase 16

Also known as: PCTAIRE, PCTAIRE1, PCTGAIRE, PCTK1

NCBI Gene: 5127 ENSG00000102225 UniProt: Q00536

This X-linked serine/threonine protein kinase regulates vesicle-mediated transport, exocytosis, neuron differentiation, and insulin secretion, with particular roles in growth hormone release and spermatogenesis. Mutations cause X-linked intellectual disability with variable features that may include metabolic dysfunction and developmental delays. The gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to cause significant clinical phenotypes.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene belongs to the cdc2/cdkx subfamily of the ser/thr family of protein kinases. It may play a role in signal transduction cascades in terminally differentiated cells; in exocytosis; and in transport of secretory cargo from the endoplasmic reticulum. This gene is thought to escape X inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2009]

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)

X-linked complex neurodevelopmental disorder · XLLimitednot for standalone diagnostic reporting

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.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

0.26

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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