CCNA2

Chr 4

cyclin A2

Also known as: CCN1, CCNA

NCBI Gene: 890 ENSG00000145386 UniProt: P20248 OMIM: 123835

Cyclin A2 is a cell cycle regulatory protein that binds and activates cyclin-dependent kinases CDK1 and CDK2 to control the G1/S and G2/M cell cycle transitions. Mutations cause microcephaly, short stature, and intellectual disability with autosomal recessive inheritance. This gene is highly constrained against loss-of-function variants in the population.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene belongs to the highly conserved cyclin family, whose members function as regulators of the cell cycle. This protein binds and activates cyclin-dependent kinase 2 and thus promotes transition through G1/S and G2/M. [provided by RefSeq, Aug 2016]

OMIM ResearchGenerating clinical summary…

Clinical highlights

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

207

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.13

LOEUF· LoF intol.

LOF

Mechanism· G2P