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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SPO11
SPO11 initiator of meiotic double strand breaks
Chromosome 20 Β· 20q13.31
NCBI Gene: 23626Ensembl: ENSG00000054796.13HGNC: HGNC:11250UniProt: Q9Y5K1
22PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingchromosomenuclear chromosomereciprocal meiotic recombinationazoospermiaplacenta praeviaAbruptio Placentaeandrogenetic alopecia
✦AI Summary

SPO11 is a meiosis-specific topoisomerase VI-like protein essential for initiating meiotic recombination by creating DNA double-strand breaks (DSBs) 1. Located on chromosome 20.2-q13.3 2, SPO11 evolved from archaeal topoisomerase VI and functions as a component of a topoisomerase 6 complex that mediates DNA cleavage through a catalytic tyrosine residue, forming covalent protein-DNA intermediates at DSB ends 3. Unlike its topoisomerase ancestor, SPO11 characteristically fails to re-ligate DNA breaks, allowing them to persist as recombination-initiating lesions 1. These SPO11-generated DSBs are subsequently processed by nucleases like Mre11, generating oligonucleotide products that are recognized by recombination machinery including RAD51 and DMC1 4. Histone lactylation marks at recombination hotspots show strong colocalization with SPO11 and other recombination proteins, linking SPO11 function to epigenetic regulation during spermatogenesis 5. Clinically, the SPO11 C631T polymorphism associates with increased male infertility risk, particularly in Chinese populations 6, with structural analysis suggesting this variant causes deleterious changes to SPO11 mRNA and protein 7. SPO11's function is essential for proper chromosome 20 and genetic diversity during gamete formation.

Sources cited
1
SPO11 evolved from archaeal topoisomerase VI subunit A and initiates meiotic recombination by creating DSBs without re-ligating them
PMID: 40181639
2
SPO11 chromosomal localization to human 20q13.2-q13.3 and testis-specific expression pattern
PMID: 10534401
3
SPO11 forms covalent protein-DNA intermediates via catalytic tyrosine residue as a topoisomerase-type enzyme
PMID: 39180935
4
SPO11-generated DSBs are processed and recognized by RAD51 and DMC1 recombination machinery
PMID: 39147779
5
SPO11 localizes to recombination hotspots marked by histone H4K8 lactylation during spermatogenesis
PMID: 39928879
6
SPO11 C631T polymorphism significantly increases male infertility risk in Chinese populations
PMID: 28050928
7
C631T transition causes deleterious structural changes to SPO11 mRNA and protein based on bioinformatics analysis
PMID: 27047561
Disease Associationsβ“˜20
azoospermiaOpen Targets
0.29Weak
placenta praeviaOpen Targets
0.28Weak
Abruptio PlacentaeOpen Targets
0.27Weak
androgenetic alopeciaOpen Targets
0.10Weak
partial chromosome Y deletionOpen Targets
0.09Suggestive
spermatogenic failure 57Open Targets
0.08Suggestive
spermatogenic failure 50Open Targets
0.08Suggestive
spermatogenic failure 25Open Targets
0.08Suggestive
isochromosomy YpOpen Targets
0.08Suggestive
multinodular goiterOpen Targets
0.08Suggestive
spermatogenic failure 59Open Targets
0.08Suggestive
spermatogenic failure 60Open Targets
0.08Suggestive
spermatogenic failure 73Open Targets
0.08Suggestive
spermatogenic failure 74Open Targets
0.08Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.08Suggestive
spermatogenic failure 71Open Targets
0.08Suggestive
spermatogenic failure 61Open Targets
0.08Suggestive
spermatogenic failure 62Open Targets
0.08Suggestive
spermatogenic failure 88Open Targets
0.08Suggestive
ring chromosome YOpen Targets
0.08Suggestive
Pathogenic Variants1
NM_012444.3(SPO11):c.744G>A (p.Thr248=)Likely pathogenic
Non-obstructive azoospermia
β˜…β˜†β˜†β˜†2021β†’ Residue 248
View on ClinVar β†—
Related Genes
SYCE1Protein interaction100%BRCA2Protein interaction98%ATRProtein interaction98%H3C13Protein interaction95%SYCP3Protein interaction95%MSH4Protein interaction93%
Tissue Expression6 tissues
Brain
0%
Bone Marrow
0%
Ovary
0%
Heart
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
SPO11SYCE1BRCA2ATRH3C13SYCP3MSH4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9Y5K1
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.26LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.81 [0.53–1.26]
RankingsWhere SPO11 stands among ~20K protein-coding genes
  • #13,751of 20,598
    Most Researched22
  • #5,352of 5,498
    Most Pathogenic Variants1
  • #13,300of 17,882
    Most Constrained (LOEUF)1.26
Genes detectedSPO11
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The SPO11-C631T gene polymorphism and male infertility risk: a meta-analysis.
PMID: 28050928
Ren Fail Β· 2017
1.00
2
Spo11: from topoisomerase VI to meiotic recombination initiator.
PMID: 40181639
Biochem Soc Trans Β· 2025
0.90
3
SPO11-C631T Gene Polymorphism: Association With Male Infertility and an in Silico-Analysis.
PMID: 27047561
J Family Reprod Health Β· 2015
0.80
4
Exploring the removal of Spo11 and topoisomerases from DNA breaks in S. cerevisiae by human Tyrosyl DNA Phosphodiesterase 2.
PMID: 39236418
DNA Repair (Amst) Β· 2024
0.70
5
Dynamic changes in histone lysine lactylation during meiosis prophase I in mouse spermatogenesis.
PMID: 39928879
Proc Natl Acad Sci U S A Β· 2025
0.60