CDCA8

Chr 1

cell division cycle associated 8

Also known as: BOR, BOREALIN, DasraB, MESRGP

NCBI Gene: 55143ENSG00000134690UniProt: Q53HL2

This gene encodes a component of the chromosomal passenger complex. This complex is an essential regulator of mitosis and cell division. This protein is cell-cycle regulated and is required for chromatin-induced microtubule stabilization and spindle formation. Alternate splicing results in multiple transcript variants. Pseudgenes of this gene are found on chromosomes 7, 8 and 16. [provided by RefSeq, Apr 2013]

41
ClinVar variants
5
Pathogenic / LP
0.01
pLI score
0
Active trials
Clinical Summary— CDCA8
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
5 Pathogenic / Likely Pathogenic· 29 VUS of 41 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.68LOEUF
pLI 0.007
Z-score 2.59
OE 0.36 (0.21–0.68)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.02Z-score
OE missense 0.77 (0.67–0.90)
126 obs / 162.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.36 (0.21–0.68)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.77 (0.67–0.90)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.77
0≤1.21.6
LoF obs/exp: 7 / 19.2Missense obs/exp: 126 / 162.8Syn Z: 1.38

ClinVar Variant Classifications

41 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic4
Likely Pathogenic1
VUS29
Likely Benign6
Conflicting1
4
Pathogenic
1
Likely Pathogenic
29
VUS
6
Likely Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
4
0
4
Likely Pathogenic
0
0
1
0
1
VUS
0
25
4
0
29
Likely Benign
0
4
1
1
6
Benign
0
0
0
0
0
Conflicting
—1
Total02910141

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CDCA8 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
BUB1, BUB1B, CCNA2, and CDCA8, along with miR-524-5p, as clinically relevant biomarkers for the diagnosis and treatment of endometrial carcinoma.
Hao Q et al.·BMC Cancer
2023
CDCA8 expression and its clinical relevance in patients with bladder cancer.
Bi Y et al.·Medicine (Baltimore)
2018Cohort
Methylation-dependent and -independent roles of EZH2 synergize in CDCA8 activation in prostate cancer.
Yi Y et al.·Oncogene
2022
CDCA8 Facilitates Tumor Proliferation and Predicts a Poor Prognosis in Hepatocellular Carcinoma.
Cui Y et al.·Appl Biochem Biotechnol
2024
CDCA8 promotes bladder cancer survival by stabilizing HIF1α expression under hypoxia.
Zhou Q et al.·Cell Death Dis
2023
A hypoxia-glycolysis-lactate-related gene signature for prognosis prediction in hepatocellular carcinoma.
Qin X et al.·BMC Med Genomics
2024
Let-7c-5p down-regulates immune-related CDCA8 to inhibit hepatocellular carcinoma.
Chen W et al.·Funct Integr Genomics
2023
CRISPR-Cas9 screening identified novel subtypes of cutaneous melanoma based on essential cancer genes.
Wang YX et al.·Arch Dermatol Res
2024
miR-133b inhibits cell proliferation, migration, and invasion of lung adenocarcinoma by targeting CDCA8.
Hu C et al.·Pathol Res Pract
2021
Identification of key genes and signaling pathways of liver cancer and model construction for prognosis and diagnosis based on bioinformatics analysis.
Wei B et al.·PLoS One
2025Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
TMEM106C, BSG, COPE, CDCA8, KPNA2, LIG1, UQCRH, and CCT5: Predictive of Survival and Immunotherapy Resistance in Hepatocellular Carcinoma.
Yu K et al.·Hum Mutat
2026🔓 Open Access
INCENP and CDCA8 predict neoadjuvant chemotherapy response and outcomes in esophageal squamous cell carcinoma.
Wang X et al.·Nat Commun
2026🔓 Open Access
HAUS1 Promotes Colorectal Cancer Progression by Activating CDCA8 Transcription Through the HAUS1-EZH2-E2F1 Axis.
Tan J et al.·FASEB J
2026
A core stemness-associated module reveals PLK1, NUF2, KIF23, CDCA8, TOP2A, CENPF, AURKA, and ASPM as key genes in rectal cancer.
Yao B et al.·Eur J Med Res
2025🔓 Open Access
Suppressing CDCA8/CDK1 improves oral squamous cell carcinoma by modulating proliferation, apoptosis, cell cycle and migration.
Zhu J et al.·Discov Oncol
2025🔓 Open Access
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools