CDCA8: Cell Division Cycle Associated 8
A key regulator of mitosis and chromosomal passenger complex function
Gene Information Card
| Symbol | CDCA8 |
|---|---|
| Full Name | Cell Division Cycle Associated 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p34.3 |
| NCBI Gene ID | 55143 ncbi.nlm.nih.gov/gene/55143 |
| Ensembl ID | ENSG00000134690 |
| UniProt ID | Q53HL2 |
| OMIM ID | 609977 |
| HGNC ID | 14629 |
| Aliases | BOREALIN, DasraB, FLJ12806 |
Description
CDCA8 (cell division cycle associated 8) encodes borealin, a component of the chromosomal passenger complex (CPC) essential for mitotic progression. The CPC regulates chromosome segregation, spindle checkpoint, and cytokinesis. CDCA8 is overexpressed in various cancers and associated with poor prognosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of CDCA8 promotes cell proliferation and aneuploidy via CPC dysregulation | PMID: 25605248 |
| Lung adenocarcinoma | High CDCA8 expression correlates with advanced stage and poor survival | PMID: 31570789 |
| Colorectal cancer | CDCA8 amplification drives chromosomal instability and tumorigenesis | PMID: 27626311 |
| Hepatocellular carcinoma | CDCA8 upregulation enhances mitotic errors and metastasis | PMID: 30356099 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | High |
| Bone marrow | 10.8 | High |
| Lymph node | 8.5 | Medium |
| Lung | 4.3 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical cancer cell line; high expression |
| A549 | 12.3 | Lung cancer cell line; moderate expression |
| MCF7 | 9.7 | Breast cancer cell line; moderate expression |
| HEK293 | 2.1 | Embryonic kidney; low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | p.Met1Val; potential loss of start codon |
| c.374C>T | Missense | <0.01% | p.Thr125Met; unknown significance |
| c.523G>A | Synonymous | <0.01% | p.Gly175Gly; no protein change |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in CDCA8.
Gain of Function (GOF)
Amplification and overexpression in multiple cancers suggest gain-of-function role.
Dominant Negative (DN)
Not described for CDCA8.
View complete mutation data:
Gene Ontology (GO)
| • chromosome (GO:0000775) | • kinetochore (GO:0000776) |
| • condensed chromosome kinetochore (GO:0000777) | • spindle (GO:0005819) |
| • chromosome segregation (GO:0007059) | • mitotic nuclear division (GO:0007067) |
| • chromosome passenger complex (GO:0032133) | • cell division (GO:0051301) |
Pathways
• Chromosomal Passenger Complex (CPC) pathway
• Cell cycle - KEGG hsa04110
• Mitotic prometaphase - Reactome R-HSA-68877
Protein Summary
Borealin (CDCA8) is a 280-amino acid protein that forms the chromosomal passenger complex with Aurora B, INCENP, and survivin. It localizes to centromeres during mitosis and is required for proper chromosome alignment, spindle checkpoint activation, and cytokinesis. The protein contains a conserved N-terminal domain essential for CPC assembly and a C-terminal region that mediates chromatin binding.
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