REC8 (REC8 meiotic recombination protein)

Gene

• Entrez ID: 9985
• Gene name: REC8 meiotic recombination protein
• Gene symbol: REC8
• Synonyms (NCBI Gene): HR21spB, REC8L1, Rec8p
• Chromosome: 14
• Chromosome location: 14q12
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34075659	C>G,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2089063	hsa-miR-1343	CLIP-seq
MIRT2089064	hsa-miR-3074-5p	CLIP-seq
MIRT2089065	hsa-miR-4743	CLIP-seq
MIRT2089066	hsa-miR-885-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000724	Process	Double-strand break repair via homologous recombination	IEA
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IEA
GO:0000779	Component	Condensed chromosome, centromeric region	IEA
GO:0000793	Component	Condensed chromosome	IEA
GO:0000794	Component	Condensed nuclear chromosome	IEA
GO:0000795	Component	Synaptonemal complex	IEA
GO:0000800	Component	Lateral element	IEA
GO:0001556	Process	Oocyte maturation	IEA
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0003682	Function	Chromatin binding	IBA
GO:0005515	Function	Protein binding	IPI	24981860, 25036637
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	10207075
GO:0005694	Component	Chromosome	IEA
GO:0006302	Process	Double-strand break repair	IBA
GO:0007059	Process	Chromosome segregation	IEA
GO:0007062	Process	Sister chromatid cohesion	IEA
GO:0007062	Process	Sister chromatid cohesion	TAS	10207075
GO:0007129	Process	Homologous chromosome pairing at meiosis	IEA
GO:0007130	Process	Synaptonemal complex assembly	IEA
GO:0007131	Process	Reciprocal meiotic recombination	TAS	10207075
GO:0007141	Process	Male meiosis I	IEA
GO:0007283	Process	Spermatogenesis	TAS	10207075
GO:0007286	Process	Spermatid development	IEA
GO:0008278	Component	Cohesin complex	IEA
GO:0009566	Process	Fertilization	IEA
GO:0030893	Component	Meiotic cohesin complex	IBA
GO:0030893	Component	Meiotic cohesin complex	IEA
GO:0051177	Process	Meiotic sister chromatid cohesion	IBA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0051321	Process	Meiotic cell cycle	TAS	10207075
GO:0072520	Process	Seminiferous tubule development	IEA

Other IDs

• MIM: 608193
• HGNC: 16879
• e!Ensembl: ENSG00000100918

Protein

• UniProt ID: O95072
• Protein name: Meiotic recombination protein REC8 homolog (Cohesin Rec8p)
• Protein function: Required during meiosis for separation of sister chromatids and homologous chromosomes. Proteolytic cleavage of REC8 on chromosome arms by separin during anaphase I allows for homologous chromosome separation in meiosis I and cleavage of REC8 on
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04825	Rad21_Rec8_N	1 → 116	N terminus of Rad21 / Rec8 like protein	Family
  PF04824	Rad21_Rec8	492 → 546	Conserved region of Rad21 / Rec8 like protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in testis and thymus. Expressed in the B-cell lines WI-L2-NS and Namalwa (at protein level). {ECO:0000269|PubMed:10207075}.
• Sequence:

  MFYYPNVLQRHTGCFATIWLAATRGSRLVKREYLRVNVVKTCEEILNYVLVRVQPPQPGL
  PRPRFSLYLSAQLQIGVIRVYSQQCQYLVEDIQHILERLHRAQLQIRIDMETELPSLLLP
  NHLAMMETLEDAPDPFFGMMSVDPRLPSPFDIPQIRHLLEAAIPERVEEIPPEVPTEPRE
  PERIPVTVLPPEAITILEAEPIRMLEIEGERELPEVSRRELDLLIAEEEEAILLEIPRLP
  PPAPAEVEGIGEALGPEELRLTGWEPGALLMEVTPPEELRLPAPPSPERRPPVPPPPRRR
  RRRRLLFWDKETQISPEKFQEQLQTRAHCWECPMVQPPERTIRGPAELFRTPTLSGWLPP
  ELLGLWTHCAQPPPKALRRELPEEAAAEEERRKIEVPSEIEVPREALEPSVPLMVSLEIS
  LEAAEEEKSRISLIPPEERWAWPEVEAPEAPALPVVPELPEVPMEMPLVLPPELELLSLE
  AVHRAVALELQANREPDFSSLVSPLSPRRMAARVFYLLLVLSAQQILHVKQEKPYGRLLI
  QPGPRFH

• Sequence length: 547

Pathways

KEGG:

Oocyte meiosis

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
Azoospermia	Pathogenic	rs2138790657	RCV001797575	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature ovarian insufficiency	Likely pathogenic	rs2139132972, rs2138794849	RCV001839426 RCV001839425	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL SEGMENTAL GLOMERULOSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Non-obstructive azoospermia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian failure	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR AZOOSPERMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aneuploidy	Aneuploidy	Pubtator	36179046	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	18570052, 31479588		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Azoospermia	Azoospermia	Pubtator	31479588, 35172124, 36945018, 38403804	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	38403804	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35616161	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiac defects	Cardiac Defects	BEFREE	23894102		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	37370088	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	1746613		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	1746613		★☆☆☆☆ Found in Text Mining only
Conotruncal defect	Conotruncal defect	BEFREE	1746613		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	3981583		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	BEFREE	21708825		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	18706547	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	18706547	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23894102		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27212034, 29393474		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	26472282		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27212034		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	16778180		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neoplasms	Neoplasms	BEFREE	19463812, 26472282, 27212034		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	18570052		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	28591191	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37143720	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27212034, 29393474		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	27212034		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29393474, 32958054	Associate	★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	1746613		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	26472282		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	26472282		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	26472282	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	1746613		★☆☆☆☆ Found in Text Mining only