CDC20

Chr 1AR

cell division cycle 20

Also known as: CDC20A, OOMD14, OZEMA14, bA276H19.3, p55CDC

NCBI Gene: 991ENSG00000117399UniProt: Q12834

CDC20 appears to act as a regulatory protein interacting with several other proteins at multiple points in the cell cycle. It is required for two microtubule-dependent processes, nuclear movement prior to anaphase and chromosome separation. [provided by RefSeq, Jul 2008]

Primary Disease Associations & Inheritance

Oocyte/zygote/embryo maturation arrest 14MIM #620276
AR
84
ClinVar variants
22
Pathogenic / LP
0.00
pLI score
1
Active trials
Clinical Summary— CDC20
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
22 Pathogenic / Likely Pathogenic· 59 VUS of 84 total submissions
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

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.
0.84LOEUF
pLI 0.000
Z-score 2.22
OE 0.54 (0.36–0.84)
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.
1.83Z-score
OE missense 0.70 (0.63–0.79)
208 obs / 296.7 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.0.54 (0.36–0.84)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.70 (0.63–0.79)
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.0.86
0≤1.21.6
LoF obs/exp: 15 / 27.6Missense obs/exp: 208 / 296.7Syn Z: 1.14

ClinVar Variant Classifications

84 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic20
Likely Pathogenic2
VUS59
Likely Benign2
Benign1
20
Pathogenic
2
Likely Pathogenic
59
VUS
2
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
2
4
14
0
20
Likely Pathogenic
1
0
1
0
2
VUS
0
56
3
0
59
Likely Benign
0
2
0
0
2
Benign
0
0
0
1
1
Total36218184

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

View in ClinVar →

Protein Context — Lollipop Plot

CDC20 · 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

Oocyte/zygote/embryo maturation arrest 14

MIM #620276

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Genetic factors as potential molecular markers of human oocyte and embryo quality.
Sang Q et al.·J Assist Reprod Genet
2021Review
CDC20-Mediated Selective Autophagy Degradation of PBRM1 Affects Immunotherapy for Renal Cell Carcinoma.
Fan Y et al.·Adv Sci (Weinh)
2025
Predicting Infertility: How Genetic Variants in Oocyte Spindle Genes Affect Egg Quality.
Biswas L et al.·Adv Anat Embryol Cell Biol
2024Review
Targeting Cdc20 as a novel cancer therapeutic strategy.
Wang L et al.·Pharmacol Ther
2015Review
Gene mutations impede oocyte maturation, fertilization, and early embryonic development.
Fei CF et al.·Bioessays
2022Review
Mechanism underlying CDC20 affecting epithelial ovarian cancer biological behavior by regulating BAG6 ubiquitination.
Zhang X et al.·Cell Signal
2025Functional
Ubiquitin-conjugating enzyme E2C: a potential cancer biomarker.
Xie C et al.·Int J Biochem Cell Biol
2014Review
PD-L1 and the Clinical Outcomes of Ovarian Cancer: Meta-Analysis and Bioinformatical Analysis.
Shi X et al.·Asian Pac J Cancer Prev
2022Meta-analysis
Tracing the evolutionary pathway of SARS-CoV-2 through RNA sequencing analysis.
Rezapour M et al.·Sci Rep
2025
Genome-wide CRISPR screen identifies BUB1 kinase as a druggable vulnerability in malignant pleural mesothelioma.
Cakiroglu E et al.·Cell Death Dis
2025
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Breast NeoplasmTriple Negative Breast Cancer (TNBC)HRD

PHOENIX DDR/Anti-PD-L1 Trial: A Pre-surgical Window of Opportunity and Post-surgical Adjuvant Biomarker Study of DNA Damage Response Inhibition With or Without Anti-PD-L1 Immunotherapy in Patients With Neoadjuvant Treatment Resistant Residual Triple Negative Breast Cancer

RECRUITING
NCT03740893Phase PHASE2Institute of Cancer Research, United KingdomStarted 2019-10-15
AZD6738OlaparibDurvalumab

External Resources

Links to major genomics databases and tools