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.

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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