• Gene id: 9985

Gene Summary

• Gene Symbol: REC8   Gene   UCSC   Ensembl
• Aliases: HR21spB, REC8L1, Rec8p
• Gene name: REC8 meiotic recombination protein
• Alternate names: meiotic recombination protein REC8 homolog, REC8 homolog, REC8-like 1, cohesin Rec8p, cohesion rec8p, human homolog of rad21, S. pombe, kleisin-alpha, meiotic recombination and sister chromatid cohesion phosphoprotein of the rad21p family, meiotic recombi,
• Gene location: 14q12 (24171930: 24180407)     Exons: 20     NC_000014.9
• Gene summary(Entrez): This gene encodes a member of the kleisin family of SMC (structural maintenance of chromosome) protein partners. The protein localizes to the axial elements of chromosomes during meiosis in both oocytes and spermatocytes. In the mouse, the homologous prot
• OMIM: 608193

Protein Summary

• Protein general information: O95072  
  • Name: Meiotic recombination protein REC8 homolog (Cohesin Rec8p)
  • Length: 547  
  • Mass: 62,614
• Sequence:

  MFYYPNVLQRHTGCFATIWLAATRGSRLVKREYLRVNVVKTCEEILNYVLVRVQPPQPGLPRPRFSLYLSAQLQI
  GVIRVYSQQCQYLVEDIQHILERLHRAQLQIRIDMETELPSLLLPNHLAMMETLEDAPDPFFGMMSVDPRLPSPF
  DIPQIRHLLEAAIPERVEEIPPEVPTEPREPERIPVTVLPPEAITILEAEPIRMLEIEGERELPEVSRRELDLLI
  AEEEEAILLEIPRLPPPAPAEVEGIGEALGPEELRLTGWEPGALLMEVTPPEELRLPAPPSPERRPPVPPPPRRR
  RRRRLLFWDKETQISPEKFQEQLQTRAHCWECPMVQPPERTIRGPAELFRTPTLSGWLPPELLGLWTHCAQPPPK
  ALRRELPEEAAAEEERRKIEVPSEIEVPREALEPSVPLMVSLEISLEAAEEEKSRISLIPPEERWAWPEVEAPEA
  PALPVVPELPEVPMEMPLVLPPELELLSLEAVHRAVALELQANREPDFSSLVSPLSPRRMAARVFYLLLVLSAQQ
  ILHVKQEKPYGRLLIQPGPRFH

• Structural information:
  • Interpro: IPR006909  IPR006910  IPR036390  
  • STRING: ENSP00000308699
• Other Databases: GeneCards:  REC8  Malacards:  REC8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000724	double-strand break repair via homologous recombination	IEA	biological process
GO:0000778	condensed nuclear chromosome kinetochore	IEA	cellular component
GO:0000800	lateral element	IEA	cellular component
GO:0001556	oocyte maturation	IEA	biological process
GO:0001673	male germ cell nucleus	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0007062	sister chromatid cohesion	TAS	biological process
GO:0007126	meiotic nuclear division	TAS	biological process
GO:0007130	synaptonemal complex assembly	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:0009566	fertilization	IEA	biological process
GO:0034991	nuclear meiotic cohesin complex	IEA	cellular component
GO:0072520	seminiferous tubule development	IEA	biological process
GO:0000228	nuclear chromosome	IEA	cellular component
GO:0000724	double-strand break repair via homologous recombination	IEA	biological process
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0000778	condensed nuclear chromosome kinetochore	IEA	cellular component
GO:0000780	condensed nuclear chromosome, centromeric region	IEA	cellular component
GO:0000794	condensed nuclear chromosome	IEA	cellular component
GO:0000795	synaptonemal complex	IEA	cellular component
GO:0000800	lateral element	IEA	cellular component
GO:0001556	oocyte maturation	IEA	biological process
GO:0001673	male germ cell nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0007059	chromosome segregation	IEA	biological process
GO:0007062	sister chromatid cohesion	TAS	biological process
GO:0007126	meiotic nuclear division	IEA	biological process
GO:0007126	meiotic nuclear division	TAS	biological process
GO:0007129	synapsis	IEA	biological process
GO:0007130	synaptonemal complex assembly	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:0009566	fertilization	IEA	biological process
GO:0030893	meiotic cohesin complex	IEA	cellular component
GO:0034991	nuclear meiotic cohesin complex	IEA	cellular component
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0072520	seminiferous tubule development	IEA	biological process
GO:0005634	nucleus	TAS	cellular component
GO:0007062	sister chromatid cohesion	TAS	biological process
GO:0007126	meiotic nuclear division	TAS	biological process
GO:0007131	reciprocal meiotic recombination	TAS	biological process
GO:0007283	spermatogenesis	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04114	Oocyte meiosis

Diseases

Associated diseases	References
Male factor infertility	MIK: 18570052
Azoospermia	MIK: 18570052
Oligozoospermia	MIK: 18570052
Male infertility	MIK: 18570052
Oligozoospermia	MIK: 18570052
Non obstructive azoospermia	MIK: 31479588
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
18570052	Male factor infertility, azoospermia, severe oligozoospermia		Europea n		Male infertility
31479588	Non obstructive azoospermia	c.91C>T p.(Arg31Cys)	Brazil, South America n	17 non-obstructive azoospermia	Male infertility	NGS
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray