CCAR2

Chr 8

cell cycle and apoptosis regulator 2

Also known as: DBC-1, DBC1, KIAA1967, NET35, p30 DBC, p30DBC

NCBI Gene: 57805 ENSG00000158941 UniProt: Q8N163

CCAR2 encodes a core component of the DBIRD complex that regulates RNA polymerase II transcript elongation and alternative splicing, while also functioning as an inhibitor of multiple enzymes including SIRT1 deacetylase and playing roles in DNA damage response and circadian regulation. The gene is highly constrained against loss-of-function variants (pLI 0.94, LOEUF 0.32), but associated human diseases from mutations in CCAR2 have not yet been established in the medical literature.

ResearchSummary from RefSeq, UniProt

Enables RNA polymerase II complex binding activity and enzyme inhibitor activity. Involved in several processes, including mitochondrial fragmentation involved in apoptotic process; regulation of primary metabolic process; and regulation of signal transduction. Located in several cellular components, including mitochondrial matrix; nucleoplasm; and spindle. Part of DBIRD complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

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.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.32

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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