SPO11 (SPO11 initiator of meiotic double stranded breaks)

2017-04-01  

Identity

HGNC
LOCATION
20q13.31
LOCUSID
ALIAS
CT35,SPATA43,TOPOVIA,TOPVIA
FUSION GENES

Other Information

Locus ID:

NCBI: 23626
MIM: 605114
HGNC: 11250
Ensembl: ENSG00000054796

Variants:

dbSNP: 23626
ClinVar: 23626
TCGA: ENSG00000054796
COSMIC: SPO11

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000054796ENST00000345868Q9Y5K1
ENSG00000054796ENST00000371260Q5TCH7
ENSG00000054796ENST00000371263Q9Y5K1
ENSG00000054796ENST00000418127Q5TCH6
ENSG00000054796ENST00000494972H0YCK9

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Cell CycleREACTOMER-HSA-1640170
MeiosisREACTOMER-HSA-1500620
Meiotic recombinationREACTOMER-HSA-912446

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
203786152010Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent.40
181668242008Genetic investigation of four meiotic genes in women with premature ovarian failure.24
181668242008Genetic investigation of four meiotic genes in women with premature ovarian failure.24
161694192005Screening the SPO11 and EIF5A2 genes in a population of infertile men.8
161694192005Screening the SPO11 and EIF5A2 genes in a population of infertile men.8
250051692014Study of single nucleotide polymorphism (rs28368082) in SPO11 gene and its association with male infertility.7
215568912011An association study of SPO11 gene single nucleotide polymorphisms with idiopathic male infertility in Chinese Han population.6
266630672015[Association of SPO11 and GST gene polymorphisms with idiopathic male infertility in ethnic Han Chinese].2
280509282017The SPO11-C631T gene polymorphism and male infertility risk: a meta-analysis.1

Citation

Dessen P

SPO11 (SPO11 initiator of meiotic double stranded breaks)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56743/spo11