HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CCNB3
cyclin B3
Chromosome X · Xp11.22
NCBI Gene: 85417Ensembl: ENSG00000147082.18HGNC: HGNC:18709UniProt: Q8WWL7
40PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmprotein bindingG1/S transition of mitotic cell cyclenucleusneurodegenerative diseasehabitual abortionspinal muscular atrophymotor neuron disease
✦AI Summary

CCNB3 (cyclin B3) is a cell cycle regulatory protein that functions as a positive regulatory subunit of cyclin-dependent kinase 1 (CDK1), controlling critical transitions during meiosis and mitosis 1. In oocyte maturation, CCNB3 regulates CDK1 activity, which modulates the anaphase-promoting complex/cyclosome (APC/C) through effects on CDH1 and CDC20 accumulation, ultimately controlling progression through meiosis I 1. Genetically, CCNB3 mutations cause female infertility through oocyte maturation arrest at the germinal vesicle or metaphase I stages due to aberrant CDK1 activity 1. In males, CCNB3 mutations contribute to globozoospermia, a form of teratozoospermia characterized by sperm morphological defects 2. Clinically, CCNB3 is notable as a fusion partner with BCOR in BCOR::CCNB3 sarcoma, a rare undifferentiated malignancy predominantly affecting males under age 20, primarily in bone and soft tissues 34. CCNB3 protein expression serves as a highly sensitive (93.3%) and specific (100%) diagnostic marker for BCOR::CCNB3 sarcoma by immunohistochemistry, showing diffuse nuclear staining 5. BCOR::CCNB3 sarcomas demonstrate approximately 75% five-year overall survival with Ewing sarcoma-type chemotherapy and wide resection, though local recurrence rates reach ~20% 4.

Sources cited
1
CCNB3 regulates CDK1 activity and APC/C function in oocyte maturation; mutations cause oocyte arrest at GV or MI stages leading to female infertility
PMID: 37635245
2
CCNB3 mutations cause globozoospermia, a sperm morphological abnormality
PMID: 39417902
3
BCOR-CCNB3 sarcoma is a distinct genetic entity affecting predominantly males under 20 years, occurring in bone and soft tissues with 72% five-year overall survival
PMID: 29300189
4
BCOR::CCNB3 sarcoma predominantly affects males under 20 with ~75% five-year overall survival; treated with wide resection and chemotherapy
PMID: 40652565
5
CCNB3 immunohistochemical staining has 93.3% sensitivity and 100% specificity as diagnostic marker for BCOR-CCNB3 sarcoma
PMID: 36480832
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.38Weak
habitual abortionOpen Targets
0.34Weak
spinal muscular atrophyOpen Targets
0.16Weak
motor neuron diseaseOpen Targets
0.09Suggestive
sarcomaOpen Targets
0.09Suggestive
azoospermiaOpen Targets
0.08Suggestive
Atrophy/Degeneration affecting the central nervous systemOpen Targets
0.07Suggestive
Female infertility due to fertilization defectOpen Targets
0.06Suggestive
spermatogenic failure 12Open Targets
0.06Suggestive
spermatogenic failure 20Open Targets
0.05Suggestive
spermatogenic failure 61Open Targets
0.05Suggestive
spermatogenic failure 62Open Targets
0.05Suggestive
spermatogenic failure 88Open Targets
0.05Suggestive
spermatogenic failure 59Open Targets
0.05Suggestive
spermatogenic failure 60Open Targets
0.05Suggestive
spermatogenic failure 73Open Targets
0.05Suggestive
spermatogenic failure 74Open Targets
0.05Suggestive
Male infertility due to large-headed multiflagellar polyploid spermatozoaOpen Targets
0.05Suggestive
spermatogenic failure 5Open Targets
0.05Suggestive
spermatogenic failure 48Open Targets
0.05Suggestive
Pathogenic Variants1
NM_033031.3(CCNB3):c.3752T>A (p.Val1251Asp)Pathogenic
Pregnancy loss, recurrent, susceptibility to, 1
☆☆☆☆→ Residue 1251
View on ClinVar ↗
Related Genes
CCNG2Shared pathway100%CCNJShared pathway100%CCNJLShared pathway100%CCNPShared pathway100%CCNI2Shared pathway100%ANAPC4Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Liver
81%
Lung
64%
Bone Marrow
30%
Heart
23%
Ovary
21%
Gene Interaction Network
Click a node to explore
CCNB3CCNG2CCNJCCNJLCCNPCCNI2ANAPC4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8WWL7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.29Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.18 [0.11–0.29]
RankingsWhere CCNB3 stands among ~20K protein-coding genes
  • #10,142of 20,598
    Most Researched40
  • #5,168of 5,498
    Most Pathogenic Variants1
  • #1,026of 17,882
    Most Constrained (LOEUF)0.29 · top 10%
Genes detectedCCNB3
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
Genetic etiological spectrum of sperm morphological abnormalities.
PMID: 39417902
J Assist Reprod Genet · 2024
1.00
2
BCOR-CCNB3 Fusion Positive Sarcomas: A Clinicopathologic and Molecular Analysis of 36 Cases With Comparison to Morphologic Spectrum and Clinical Behavior of Other Round Cell Sarcomas.
PMID: 29300189
Am J Surg Pathol · 2018
0.90
3
BCOR involvement in cancer.
PMID: 31150281
Epigenomics · 2019
0.80
4
Primary Renal BCOR-CCNB3 Fusion Sarcoma: A Case Report and Review of the Literature.
PMID: 34515251
Urol Int · 2022
0.70
5
[The diagnostic value of CCNB3 and BCOR expression in BCOR-CCNB3 sarcoma].
PMID: 36480832
Zhonghua Bing Li Xue Za Zhi · 2022
0.60