CCAR2
Chr 8cell cycle and apoptosis regulator 2
Also known as: DBC-1, DBC1, KIAA1967, NET35, p30 DBC, p30DBC
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
282 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 79 | 0 | 79 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 0 | 146 | 7 | 0 | 153 |
Likely Benign | 1 | 7 | 5 | 15 | 28 |
Benign | 0 | 2 | 3 | 9 | 14 |
Conflicting | — | 1 | |||
| Total | 1 | 155 | 98 | 24 | 279 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CCAR2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools