SPO11 (SPO11 initiator of meiotic double strand breaks)

Gene

• Entrez ID: 23626
• Gene name: SPO11 initiator of meiotic double strand breaks
• Gene symbol: SPO11
• Synonyms (NCBI Gene): CT35, SPATA43, TOPOVIA, TOPVIA
• Chromosome: 20
• Chromosome location: 20q13.31
• Summary: 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 t

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018949	hsa-miR-335-5p	Microarray	18185580
MIRT2115224	hsa-miR-3653	CLIP-seq
MIRT2115225	hsa-miR-3658	CLIP-seq
MIRT2337974	hsa-miR-4776-3p	CLIP-seq
MIRT2631380	hsa-miR-1323	CLIP-seq
MIRT2631381	hsa-miR-3129-3p	CLIP-seq
MIRT2631382	hsa-miR-548o	CLIP-seq
MIRT2631380	hsa-miR-1323	CLIP-seq
MIRT2631381	hsa-miR-3129-3p	CLIP-seq
MIRT2631382	hsa-miR-548o	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000228	Component	Nuclear chromosome	IBA
GO:0000706	Process	Meiotic DNA double-strand break processing	IBA
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0001541	Process	Ovarian follicle development	IEA
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	10534401
GO:0003824	Function	Catalytic activity	IEA
GO:0003916	Function	DNA topoisomerase activity	IEA
GO:0003918	Function	DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity	IEA
GO:0005515	Function	Protein binding	IPI	26917763, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005694	Component	Chromosome	IEA
GO:0006259	Process	DNA metabolic process	IEA
GO:0007129	Process	Homologous chromosome pairing at meiosis	IEA
GO:0007130	Process	Synaptonemal complex assembly	IEA
GO:0007131	Process	Reciprocal meiotic recombination	IBA
GO:0007131	Process	Reciprocal meiotic recombination	IEA
GO:0007131	Process	Reciprocal meiotic recombination	IEA
GO:0007131	Process	Reciprocal meiotic recombination	TAS	10534401
GO:0007141	Process	Male meiosis I	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	TAS	10534401
GO:0007286	Process	Spermatid development	IEA
GO:0007292	Process	Female gamete generation	IEA
GO:0007292	Process	Female gamete generation	TAS	10534401
GO:0016853	Function	Isomerase activity	IEA
GO:0034502	Process	Protein localization to chromosome	IEA
GO:0042138	Process	Meiotic DNA double-strand break formation	IBA
GO:0042138	Process	Meiotic DNA double-strand break formation	IEA
GO:0045141	Process	Meiotic telomere clustering	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048477	Process	Oogenesis	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:1990918	Process	Double-strand break repair involved in meiotic recombination	IEA

Other IDs

• MIM: 605114
• HGNC: 11250
• e!Ensembl: ENSG00000054796

Protein

• UniProt ID: Q9Y5K1
• Protein name: Meiotic recombination protein SPO11 (EC 5.6.2.2) (Cancer/testis antigen 35) (CT35)
• Protein 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
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03533	SPO11_like	2 → 44	SPO11 homologue	Family
  PF04406	TP6A_N	109 → 170	Type IIB DNA topoisomerase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in testis.
• Sequence:

  MAFAPMGPEASFFDVLDRHRESLLAALRRGGREPPTGGSRLASSSEVLASIENIIQDIIT
  SLARNEAPAFTIDNRSSWENIKFEDSVGLQMVSHCTTRKIKSDSPKSAQKFSLILKILSM
  IYKLVQSNTYATKRDIYYTDSQLFGNQTVVDNIINDISCMLKVSRRSLHILSTSKGLIAG
  NLRYIEEDGTKVNCTCGATAVAVPSNIQGIRNLVTDAKFVLIVEKDATFQRLLDDNFCNK
  LSPCIMITGKGVPDLNTRLLVKKLWDTFHVPVFTLVDADPHGIEIMCIYKYGSMSMSFEA
  HHLTVPAIRWLGLLPSDLKRLNVPKDSLIPLTKRDQMKLDSILRRPYVTCQPFWRKEMEI
  MADSKMKAEIQALTFLSSDYLSRVYLPNKLKFGGWI

• Sequence length: 396

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Non-obstructive azoospermia	Likely pathogenic	rs760192298	RCV001648498	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
TESTICULAR AZOOSPERMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Azoospermia	Azoospermia	BEFREE	25005169		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	25005169	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	21556891, 25005169	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	21898529		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	25005169, 31074776		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	18166824		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	18166824		★☆☆☆☆ Found in Text Mining only