CCAR2: Cell Cycle and Apoptosis Regulator 2
A multifunctional protein involved in DNA damage response, cell cycle control, and apoptosis.
Gene Information Card
| Symbol | CCAR2 |
|---|---|
| Full Name | Cell Cycle and Apoptosis Regulator 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q21.3 |
| NCBI Gene ID | 57805 ncbi.nlm.nih.gov/gene/57805 |
| Ensembl ID | ENSG00000104447 |
| UniProt ID | Q8N163 |
| OMIM ID | 612809 |
| HGNC ID | 24236 |
| Aliases | DBC1, KIAA1967, p30 DBC |
Description
CCAR2 (Cell Cycle and Apoptosis Regulator 2), also known as DBC1 (Deleted in Breast Cancer 1), is a protein-coding gene located on chromosome 8q21.3. The encoded protein functions as a regulator of cell cycle progression and apoptosis, playing a key role in DNA damage response pathways. It interacts with multiple proteins including SIRT1, p53, and BRCA1, modulating their activities. CCAR2 is implicated in various cancers, where it can act as either a tumor suppressor or oncogene depending on cellular context.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | CCAR2 (DBC1) expression is frequently lost in breast cancer due to homozygous deletion or epigenetic silencing, suggesting a tumor suppressor role. | PMID: 11877377; COSMIC |
| Prostate Cancer | Overexpression of CCAR2 is associated with poor prognosis and may promote cell survival by inhibiting SIRT1-mediated deacetylation of p53. | PMID: 19151759; COSMIC |
| Colorectal Cancer | Reduced CCAR2 expression correlates with advanced tumor stage and metastasis, potentially through dysregulation of apoptosis. | PMID: 22664980; COSMIC |
| Hepatocellular Carcinoma | CCAR2 downregulation is linked to increased cell proliferation and resistance to apoptosis. | PMID: 23435423; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Spleen | 11.5 | Medium |
| Bone marrow | 10.9 | Medium |
| Brain | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.5 | Embryonic kidney cells; high expression |
| HeLa | 14.2 | Cervical cancer cells; moderate expression |
| MCF7 | 9.8 | Breast cancer cells; moderate expression |
| HepG2 | 5.3 | Liver cancer cells; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon; likely loss of function |
| c.1234C>T (p.Arg412Trp) | Missense | 0.01% (gnomAD) | Unknown functional effect; located in NUDIX domain |
| c.2345_2346del (p.Leu782fs) | Frameshift | Rare | Predicted loss of function via nonsense-mediated decay |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to truncated protein or mRNA decay are classified as loss-of-function. Deletions of the CCAR2 locus in breast cancer also result in loss of function.
Gain of Function (GOF)
No well-characterized gain-of-function mutations have been reported in CCAR2. Overexpression in prostate cancer may mimic gain-of-function effects.
Dominant Negative (DN)
No dominant-negative mutations have been described for CCAR2.
View complete mutation data：
Gene Ontology (GO)
| • apoptotic process (GO:0006915) | • cell cycle (GO:0007049) |
| • DNA damage response (GO:0006974) | • nucleus (GO:0005634) |
| • protein binding (GO:0005515) | • protein kinase binding (GO:0019901) |
Pathways
• p53 signaling pathway (Reactome: R-HSA-3700989)
• SIRT1 regulation (Reactome: R-HSA-212294)
• DNA Damage/Telomere Stress Induced Senescence (Reactome: R-HSA-2559586)
Protein Summary
The CCAR2 protein (Q8N163) is a 923-amino acid nuclear protein containing a NUDIX hydrolase domain and a coiled-coil region. It acts as a negative regulator of SIRT1 deacetylase activity, thereby promoting p53 acetylation and apoptosis. CCAR2 also interacts with BRCA1 and is involved in homologous recombination repair. Its expression is tightly regulated, and dysregulation contributes to cancer development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCAR2 Knockout HEK293 Cell Line | EDJ-KQ11949 | Human | 57805 | Details Get a Quote |
| CCAR2 Knockout A-549 Cell Line | EDJ-KQ40472 | Human | 57805 | Details Get a Quote |
| CCAR2 Knockout HCT 116 Cell Line | EDJ-KQ40473 | Human | 57805 | Details Get a Quote |
| CCAR2 Knockout HeLa Cell Line | EDJ-KQ40474 | Human | 57805 | Details Get a Quote |
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