• Gene id: 23626

Gene Summary

• Gene Symbol: SPO11   Gene   UCSC   Ensembl
• Aliases: CT35, SPATA43, TOPVIA
• Gene name: SPO11, initiator of meiotic double stranded breaks
• Alternate names: meiotic recombination protein SPO11, SPO11 meiotic protein covalently bound to DSB homolog, cancer/testis antigen 35, spermatogenesis associated 43,
• Gene location: 20q13.31 (57329756: 57343992)     Exons: 15     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 605114

SNPs

rs28368082

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.57335452C>T
NC_000020.10   g.55910508C>T
XM_005260382.4   c.631C>T
XM_005260382.1   c.631C>T
XM_005260379.3   c.631C>T
XM_005260379.1   c.631C>T
XM_005260380.3   c.631C>T
XM_005260380.1   c.631C>T
XM_005260381.3   c.631C>T
XM_005260381.1   c.631C>T
NM_0  

rs28368064

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.57330052G>A
NC_000020.11   g.57330052G>T
NC_000020.10   g.55905108G>A
NC_000020.10   g.55905108G>T|SEQ=[G/A/T]|GENE=SPO11
LOC105372687   105372687

rs28368062

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.57329973A>C
NC_000020.11   g.57329973A>G
NC_000020.11   g.57329973A>T
NC_000020.10   g.55905029A>C
NC_000020.10   g.55905029A>G
NC_000020.10   g.55905029A>T
XM_005260382.4   c.106A>C
XM_005260382.4   c.106A>G
XM_005260382.4   c.106A>T
XM_005260382.1   c

rs3736832

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.57333213A>G
NC_000020.10   g.55908269A>G
XM_005260382.4   c.271A>G
XM_005260382.1   c.271A>G
XM_005260379.3   c.271A>G
XM_005260379.1   c.271A>G
XM_005260380.3   c.271A>G
XM_005260380.1   c.271A>G
XM_005260381.3   c.271A>G
XM_005260381.1   c.271A>G
NM_0  

Protein Summary

• Protein general information: Q9Y5K1  
  • Name: Meiotic recombination protein SPO11 (EC 5.99.1.3) (Cancer/testis antigen 35) (CT35)
  • Length: 396  
  • Mass: 44,537
• Sequence:

  MAFAPMGPEASFFDVLDRHRESLLAALRRGGREPPTGGSRLASSSEVLASIENIIQDIITSLARNEAPAFTIDNR
  SSWENIKFEDSVGLQMVSHCTTRKIKSDSPKSAQKFSLILKILSMIYKLVQSNTYATKRDIYYTDSQLFGNQTVV
  DNIINDISCMLKVSRRSLHILSTSKGLIAGNLRYIEEDGTKVNCTCGATAVAVPSNIQGIRNLVTDAKFVLIVEK
  DATFQRLLDDNFCNKLSPCIMITGKGVPDLNTRLLVKKLWDTFHVPVFTLVDADPHGIEIMCIYKYGSMSMSFEA
  HHLTVPAIRWLGLLPSDLKRLNVPKDSLIPLTKRDQMKLDSILRRPYVTCQPFWRKEMEIMADSKMKAEIQALTF
  LSSDYLSRVYLPNKLKFGGWI

• Structural information:
  • Interpro: IPR004084  IPR013048  IPR002815  IPR013049  IPR036078   IPR034136  IPR036388  
  • CDD: cd00223
  • STRING: ENSP00000360310
• Other Databases: GeneCards:  SPO11  Malacards:  SPO11

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000737	DNA catabolic process, endonucleolytic	IEA	biological process
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0001541	ovarian follicle development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003918	DNA topoisomerase type II (ATP-hydrolyzing) activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007130	synaptonemal complex assembly	IEA	biological process
GO:0007131	reciprocal meiotic recombination	IEA	biological process
GO:0007141	male meiosis I	IEA	biological process
GO:0007283	spermatogenesis	TAS	biological process
GO:0007286	spermatid development	IEA	biological process
GO:0007292	female gamete generation	TAS	biological process
GO:0034502	protein localization to chromosome	IEA	biological process
GO:0045141	meiotic telomere clustering	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048477	oogenesis	IEA	biological process
GO:0000737	DNA catabolic process, endonucleolytic	IEA	biological process
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0001541	ovarian follicle development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0003918	DNA topoisomerase type II (ATP-hydrolyzing) activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0006259	DNA metabolic process	IEA	biological process
GO:0007129	synapsis	IEA	biological process
GO:0007130	synaptonemal complex assembly	IEA	biological process
GO:0007131	reciprocal meiotic recombination	IEA	biological process
GO:0007131	reciprocal meiotic recombination	IEA	biological process
GO:0007131	reciprocal meiotic recombination	TAS	biological process
GO:0007141	male meiosis I	IEA	biological process
GO:0007283	spermatogenesis	TAS	biological process
GO:0007286	spermatid development	IEA	biological process
GO:0007292	female gamete generation	TAS	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016853	isomerase activity	IEA	molecular function
GO:0034502	protein localization to chromosome	IEA	biological process
GO:0045141	meiotic telomere clustering	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048477	oogenesis	IEA	biological process
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0003677	DNA binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007131	reciprocal meiotic recombination	TAS	biological process
GO:0007283	spermatogenesis	TAS	biological process
GO:0007292	female gamete generation	TAS	biological process

Diseases

Associated diseases	References
Premature ovarian failure (POF)	GAD: 18166824
Male factor infertility	MIK: 16169419
Male factor infertility	MIK: 21556891
Sertoli cell only syndrome (SCOS)	MIK: 18706547
Oligozoospermia	MIK: 25005169
Azoospermia	MIK: 25005169
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Male infertility	MIK: 28050928
Azoospermia	MIK: 25005169
Oligozoospermia	MIK: 25005169
Spermatogenic defects	MIK: 16816334
Nonobstructive azoospermia	MIK: 29790874
Sertoli cell-only syndrome (SCOS)	MIK: 18706547
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
27047561	Male infertility	SPO11-C631T		200 (100 infertile, 100 healthy control men)	Male infertility
25005169	Male infertility, Azoospermia, Oligozoospermia	rs28368082	Iran	163 (113 infertile men, 50 fertile controls)	Male infertility
21556891	Idiopathic male infertility	SPO11 (rs28368082, C5679T)	Chinese		Male infertility	SPO11
18706547	Sertoli cell-only syndrome (SCOS), male infertility			24 (20 healthy males of proven fertility underwent a vasectomy, 4 infertile patiets)	Male infertility	SPO11
16169419	Male factor infertility	SPO11 (E9K, D277E, ?1 insC, 38 T>C (F13S), 271 A>G (M91V))	Japanes e	96 patients with male factor infertility (53 Japanese men with nonobstructive azoospermia or oligospermia)	Male infertility	SPO11
16816334	May be involved in meiosis and spermatogenesis				Male infertility
28050928	Male infertility	C631T			Male infertility
26663067	Idiopathic male infertility	SPO11 c.517C>T(rs28368082), A>G transition at nucleotide 313 in the exon 5 of the GSTP1 gene, and the combined genotypes of GSTM1 (-/-), GSTT1 (+/+), GSTP1 (AA) and SPO11 (CT)	Chinese Han	414 (216 idiopathic male infertility cases, 198 normal samples)	Male infertility
29790874	Nonobstructive azoospermia	c.G556A (p.Glu186Lys)		37 familial cases, 75 individuals with idiopathic NOA, 74 fertile men	Male infertility	NGS
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Associated with spermatogenesis and epigenetic regulation			18	Male infertility	GSE26881
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881