HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
3 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CNTD1
cyclin N-terminal domain containing 1
Chromosome 17 · 17q21.2-q21.31
NCBI Gene: 124817Ensembl: ENSG00000176563.10HGNC: HGNC:26847UniProt: B4DXR6
9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
chromosomeregulation of meiotic cell cyclesite of double-strand breakreciprocal meiotic recombinationazoospermiapartial chromosome Y deletionspermatogenic failure 50spermatogenic failure 57
✦AI Summary

CNTD1 (cyclin N-terminal domain containing 1) is a critical regulator of meiotic crossover formation and maturation. During meiosis, CNTD1 localizes to maturing crossover sites, where it colocalizes with other CO-specific factors including RNF212, HEI10, and MLH1 1. CNTD1 facilitates crossover differentiation through interaction with PRR19 and stimulates CO formation via interactions with RFC3 and RFC4, while simultaneously regulating cell-cycle progression through CDC34-mediated ubiquitination of WEE1. Additionally, CNTD1 participates in deselection of excess pre-CO intermediates [UniProt annotation]. The protein functions in the unloading of RNF212B at pachynema completion, demonstrating functional interplay with other E3 ligases essential for CO homeostasis 1. Loss of CNTD1 function severely impairs meiotic crossover formation, as demonstrated in zebrafish models where cntd1 knockout resulted in defective meiotic crossover formation, cell-cycle arrest at metaphase I, and production of unreduced gametes 2. In females, this leads to ploidy alterations and generation of polyploid offspring, providing direct evidence that CNTD1-dependent crossover defects are fundamental to polyploidization processes in vertebrates. These findings underscore CNTD1's essential role in ensuring accurate meiotic recombination and proper chromosome 17.

Sources cited
1
CNTD1 colocalizes with RNF212, HEI10, and MLH1 at maturing crossovers; CNTD1 is required for RNF212B unloading at pachynema completion
PMID: 38865271
2
cntd1 knockout impairs meiotic crossover formation, causes metaphase I arrest, and results in production of unreduced gametes and polyploid offspring in zebrafish
PMID: 38421617
⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
azoospermiaOpen Targets
0.10Suggestive
partial chromosome Y deletionOpen Targets
0.09Suggestive
spermatogenic failure 50Open Targets
0.08Suggestive
spermatogenic failure 57Open Targets
0.08Suggestive
spermatogenic failure 25Open Targets
0.08Suggestive
spermatogenic failure 71Open Targets
0.08Suggestive
isochromosomy YpOpen Targets
0.08Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.07Suggestive
spermatogenic failure 63Open Targets
0.07Suggestive
spermatogenic failure 61Open Targets
0.07Suggestive
spermatogenic failure 62Open Targets
0.07Suggestive
spermatogenic failure 88Open Targets
0.07Suggestive
spermatogenic failure 59Open Targets
0.07Suggestive
spermatogenic failure 60Open Targets
0.07Suggestive
spermatogenic failure 73Open Targets
0.07Suggestive
spermatogenic failure 74Open Targets
0.07Suggestive
spermatogenic failure 48Open Targets
0.07Suggestive
spinocerebellar ataxia type 32Open Targets
0.07Suggestive
isochromosomy YqOpen Targets
0.07Suggestive
congenital bilateral absence of vas deferensOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RNF212Protein interaction82%UNC119Protein interaction74%SPO11Protein interaction72%MSH4Protein interaction58%MSH5Protein interaction53%ASPMShared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
46%
Lung
43%
Ovary
38%
Brain
26%
Heart
14%
Gene Interaction Network
Click a node to explore
CNTD1RNF212UNC119SPO11MSH4MSH5ASPM
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8N815
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.62LoF Tolerant
pLIⓘ
0.52Intermediate
Observed/Expected LoF0.39 [0.25–0.62]
RankingsWhere CNTD1 stands among ~20K protein-coding genes
  • #17,303of 20,598
    Most Researched9
  • #4,317of 17,882
    Most Constrained (LOEUF)0.62 · top quartile
Genes detectedCNTD1
Sources retrieved3 papers
Response time—
📄 Sources
3
1
RNF212B E3 ligase is essential for crossover designation and maturation during male and female meiosis in the mouse.
PMID: 38865271
Proc Natl Acad Sci U S A · 2024
1.00
2
Formation of Different Polyploids Through Disrupting Meiotic Crossover Frequencies Based on cntd1 Knockout in Zebrafish.
PMID: 38421617
Mol Biol Evol · 2024
0.67
3
MRNA and miRNA expression patterns associated to pathways linked to metal mixture health effects.
PMID: 24080485
Gene · 2014
0.33