Meiotic recombination and chromosome segregation require the formation of double-strand breaks (DSBs) in paired chromosome homologs. During meiosis in yeast, a meiotic recombination protein is covalently-linked to the 5' end of DSBs and is essential for the formation of DSBs. The protein encoded by this gene is similar in sequence and conserved features to the yeast meiotic rec... See more...

Aliases for SPO11 Gene

Aliases for SPO11 Gene

  • SPO11 Initiator Of Meiotic Double Stranded Breaks 2 3 5
  • Cancer/Testis Antigen 35 2 3 4
  • CT35 2 3 4
  • Meiotic Recombination Protein SPO11 3 4
  • Spermatogenesis Associated 43 2 3
  • SPATA43 2 3
  • TOPVIA 2 3
  • SPO11 Meiotic Protein Covalently Bound To DSB Homolog (S. Cerevisiae) 2
  • SPO11, Meiotic Protein Covalently Bound To DSB (S. Cerevisiae)-Like 2
  • SPO11 Meiotic Protein Covalently Bound To DSB-Like (S. Cerevisiae) 2
  • SPO11 Meiotic Protein Covalently Bound To DSB Homolog 3
  • SPO11 Meiotic Protein Covalently Bound To DSB 2
  • EC 5.6.2.2 4
  • SPO11 5

External Ids for SPO11 Gene

Previous GeneCards Identifiers for SPO11 Gene

  • GC20P055633
  • GC20P056543
  • GC20P056590
  • GC20P055338
  • GC20P055905
  • GC20P052686

Summaries for SPO11 Gene

Entrez Gene Summary for SPO11 Gene

  • Meiotic recombination and chromosome segregation require the formation of double-strand breaks (DSBs) in paired chromosome homologs. During meiosis in yeast, a meiotic recombination protein is covalently-linked to the 5' end of DSBs and is essential for the formation of DSBs. The protein encoded by this gene is similar in sequence and conserved features to the yeast meiotic recombination protein. The encoded protein belongs to the TOP6A protein family. Several transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for SPO11 Gene

SPO11 (SPO11 Initiator Of Meiotic Double Stranded Breaks) is a Protein Coding gene. Diseases associated with SPO11 include Male Infertility and Fanconi Anemia, Complementation Group A. Among its related pathways are Meiosis and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include hydrolase activity.

UniProtKB/Swiss-Prot Summary for SPO11 Gene

  • Component of a topoisomerase 6 complex specifically required for meiotic recombination. Together with TOP6BL, mediates DNA cleavage that forms the double-strand breaks (DSB) that initiate meiotic recombination. The complex promotes relaxation of negative and positive supercoiled DNA and DNA decatenation through cleavage and ligation cycles. Essential for the phosphorylation of SMC3, HORMAD1 and HORMAD2.

Additional gene information for SPO11 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPO11 Gene

Genomics for SPO11 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SPO11 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J057329 Promoter/Enhancer 1 EPDnew CraniofacialAtlas 600.7 0.0 -12 0.4 CTCF NRF1 MGA CBX3 EGR1 CTBP1 ZBTB2 MNT TFDP1 SKIL LOC105372687 RPL39P39 SPO11 lnc-BMP7-2 BMP7
GH20J057330 Enhancer 0.7 ENCODE 600.7 +0.3 263 0.2 CTCF ZBTB33 REST MGA CBX3 EGR1 CTBP1 MNT TFDP1 SKIL LOC105372687 RPL39P39 SPO11 BMP7 piR-39098-128 RAE1
GH20J057109 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 10.5 -220.6 -220593 2.3 PKNOX1 ZNF24 SOX6 ZNF341 CEBPA MGA POLR2A ZBTB2 HES1 RNF2 ENSG00000203266 RPL39P39 SPO11 ENSG00000231078 LOC112268270 TFAP2C
GH20J057305 Enhancer 0.9 FANTOM5 ENCODE 12.1 -23.9 -23913 0.2 TARDBP ZHX2 FOXA1 ATF7 HES1 SMARCA5 BMI1 CTBP1 ESRRA PKNOX1 RPL39P39 SPO11 BMP7 RF00017-3653 ENSG00000252064 LOC105372687 lnc-BMP7-2
GH20J057286 Enhancer 0.8 Ensembl CraniofacialAtlas 12.3 -41.1 -41084 3.9 KDM1A FOXA1 ZIC2 ZNF512B SMARCA5 ZNF444 GATAD2B MBD2 SIN3A BCOR BMP7 RPL39P39 SPO11 ENSG00000226308 PCK1 piR-55258 RF00017-3653 lnc-BMP7-2 LOC105372687
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPO11 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPO11

Top Transcription factor binding sites by QIAGEN in the SPO11 gene promoter:
  • CUTL1
  • E47
  • E4BP4
  • Hlf
  • HNF-1
  • IRF-1
  • MRF-2
  • NF-kappaB1
  • POU6F1 (c2)
  • Roaz

Genomic Locations for SPO11 Gene

Genomic Locations for SPO11 Gene
chr20:57,329,757-57,343,994
(GRCh38/hg38)
Size:
14,238 bases
Orientation:
Plus strand
chr20:55,904,815-55,919,050
(GRCh37/hg19)
Size:
14,236 bases
Orientation:
Plus strand

Genomic View for SPO11 Gene

Genes around SPO11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPO11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPO11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPO11 Gene

Proteins for SPO11 Gene

  • Protein details for SPO11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5K1-SPO11_HUMAN
    Recommended name:
    Meiotic recombination protein SPO11
    Protein Accession:
    Q9Y5K1
    Secondary Accessions:
    • Q5TCI1
    • Q8N4V0
    • Q9NQM7
    • Q9NQM8

    Protein attributes for SPO11 Gene

    Size:
    396 amino acids
    Molecular mass:
    44537 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Heterotetramer of SPO11 and 2 TOP6BL chains. Interacts with TOP6BL.

    Alternative splice isoforms for SPO11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPO11 Gene

Post-translational modifications for SPO11 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SPO11 Gene

Domains & Families for SPO11 Gene

Gene Families for SPO11 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SPO11 Gene

InterPro:
Blocks:
  • SPO11 homologue signature
  • DNA topoisomerase, type IIB
ProtoNet:

Suggested Antigen Peptide Sequences for SPO11 Gene

GenScript: Design optimal peptide antigens:
  • SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae) (Q5TCH6_HUMAN)
  • Cancer/testis antigen 35 (SPO11_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y5K1

UniProtKB/Swiss-Prot:

SPO11_HUMAN :
  • Belongs to the TOP6A family.
Family:
  • Belongs to the TOP6A family.
genes like me logo Genes that share domains with SPO11: view

Function for SPO11 Gene

Molecular function for SPO11 Gene

UniProtKB/Swiss-Prot Function:
Component of a topoisomerase 6 complex specifically required for meiotic recombination. Together with TOP6BL, mediates DNA cleavage that forms the double-strand breaks (DSB) that initiate meiotic recombination. The complex promotes relaxation of negative and positive supercoiled DNA and DNA decatenation through cleavage and ligation cycles. Essential for the phosphorylation of SMC3, HORMAD1 and HORMAD2.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP-dependent breakage, passage and rejoining of double-stranded DNA.; EC=5.6.2.2; Evidence={ECO:0000305};.
GENATLAS Biochemistry:
Yeast meiosis specific gene homolog,required for double strand break formation required for initiation of recombination in S cerevisiae,expressed in prostate,testis,? and other tissues with an alternatively spliced isoform.

Enzyme Numbers (IUBMB) for SPO11 Gene

Phenotypes From GWAS Catalog for SPO11 Gene

Gene Ontology (GO) - Molecular Function for SPO11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA,IBA 21873635
GO:0003824 catalytic activity IEA --
GO:0003918 DNA topoisomerase type II (ATP-hydrolyzing) activity IEA --
GO:0005515 protein binding IPI 26917763
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with SPO11: view
genes like me logo Genes that share phenotypes with SPO11: view

Animal Models for SPO11 Gene

MGI Knock Outs for SPO11:

Animal Model Products

CRISPR Products

miRNA for SPO11 Gene

miRTarBase miRNAs that target SPO11

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPO11

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SPO11 Gene

Localization for SPO11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPO11 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPO11 gene
Compartment Confidence
nucleus 4
cytoskeleton 2
mitochondrion 2
cytosol 2
plasma membrane 1
extracellular 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SPO11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000228 nuclear chromosome IBA 21873635
GO:0000781 chromosome, telomeric region IEA --
GO:0005623 cell IEA --
GO:0005634 nucleus IEA --
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with SPO11: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPO11 Gene

Pathways & Interactions for SPO11 Gene

PathCards logo

SuperPathways for SPO11 Gene

SuperPathway Contained pathways
1 Meiosis
.73
2 Cell Cycle, Mitotic
genes like me logo Genes that share pathways with SPO11: view

Pathways by source for SPO11 Gene

3 Reactome pathways for SPO11 Gene

Gene Ontology (GO) - Biological Process for SPO11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000706 meiotic DNA double-strand break processing IBA 21873635
GO:0000737 DNA catabolic process, endonucleolytic IEA --
GO:0001541 ovarian follicle development IEA --
GO:0006259 DNA metabolic process IEA --
GO:0007129 synapsis IEA --
genes like me logo Genes that share ontologies with SPO11: view

No data available for SIGNOR curated interactions for SPO11 Gene

Drugs & Compounds for SPO11 Gene

No Compound Related Data Available

Transcripts for SPO11 Gene

mRNA/cDNA for SPO11 Gene

2 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPO11

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPO11 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c
SP1: - -
SP2: - - -
SP3: - -
SP4: - -

Relevant External Links for SPO11 Gene

GeneLoc Exon Structure for
SPO11

Expression for SPO11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPO11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPO11 Gene

This gene is overexpressed in Testis (x53.0).

Protein differential expression in normal tissues from HIPED for SPO11 Gene

This gene is overexpressed in Plasma (48.5) and Cerebrospinal fluid (20.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SPO11 Gene



Protein tissue co-expression partners for SPO11 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPO11

SOURCE GeneReport for Unigene cluster for SPO11 Gene:

Hs.159737

mRNA Expression by UniProt/SwissProt for SPO11 Gene:

Q9Y5K1-SPO11_HUMAN
Tissue specificity: Highly expressed in testis.

Evidence on tissue expression from TISSUES for SPO11 Gene

  • Nervous system(4.3)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with SPO11: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SPO11 Gene

Orthologs for SPO11 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SPO11 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SPO11 30 31
  • 99.41 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SPO11 30 31
  • 90.57 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SPO11 30 31
  • 89.45 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SPO11 31
  • 85 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Spo11 30 17 31
  • 81.9 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Spo11 30
  • 81.22 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SPO11 31
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SPO11 30
  • 75.45 (n)
Zebrafish
(Danio rerio)
Actinopterygii spo11 30 31
  • 59.98 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta mei-W68 30 31 32
  • 46.08 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010898 30
  • 46.03 (n)
Worm
(Caenorhabditis elegans)
Secernentea spo-11 31 32
  • 25 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPO11 33
Thale Cress
(Arabidopsis thaliana)
eudicotyledons RHL2 30
  • 48.38 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0284800 30
  • 44.32 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 42 (a)
OneToOne
Species where no ortholog for SPO11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for SPO11 Gene

ENSEMBL:
Gene Tree for SPO11 (if available)
TreeFam:
Gene Tree for SPO11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SPO11: view image

Paralogs for SPO11 Gene

No data available for Paralogs for SPO11 Gene

Variants for SPO11 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPO11 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
785662 Benign: not provided 57,329,973(+) A/G MISSENSE_VARIANT
rs17406460 - p.Ala202Val
rs28368062 - p.Thr36Ala
rs28368082 - p.Arg211Trp
rs3736832 - p.Met91Val

Additional dbSNP identifiers (rs#s) for SPO11 Gene

Structural Variations from Database of Genomic Variants (DGV) for SPO11 Gene

Variant ID Type Subtype PubMed ID
nsv1055983 CNV gain 25217958
nsv459027 CNV loss 19166990
nsv586311 CNV loss 21841781
nsv955139 CNV duplication 24416366

Variation tolerance for SPO11 Gene

Residual Variation Intolerance Score: 62.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.50; 29.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPO11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPO11

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPO11 Gene

Disorders for SPO11 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SPO11 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search SPO11 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SPO11

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SPO11: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPO11 Gene

Publications for SPO11 Gene

  1. Differential gene expression of mammalian SPO11/TOP6A homologs during meiosis. (PMID: 10622720) Shannon M … Thelen MP (FEBS letters 1999) 3 4 23
  2. Cloning, characterization, and localization of mouse and human SPO11. (PMID: 10534401) Romanienko PJ … Camerini-Otero RD (Genomics 1999) 2 3 4
  3. A new light on the meiotic DSB catalytic complex. (PMID: 26995551) Robert T … Grelon M (Seminars in cell & developmental biology 2016) 2 3
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent. (PMID: 20378615) Aston KI … Carrell DT (Human reproduction (Oxford, England) 2010) 3 41

Products for SPO11 Gene

  • Signalway ELISA kits for SPO11

Sources for SPO11 Gene