REC8 (REC8 meiotic recombination protein)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9985
Gene name REC8 meiotic recombination protein
Gene symbol REC8
Synonyms (NCBI Gene)
HR21spBREC8L1Rec8p
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 information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
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 miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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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) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608193 16879 ENSG00000100918
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Oocyte meiosis  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Azoospermia Pathogenic rs2138790657 RCV001797575
Premature ovarian insufficiency Likely pathogenic rs2139132972, rs2138794849 RCV001839426
RCV001839425
Show/Hide Unknown Diseases (10)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Conflicting classifications of pathogenicity rs34075659 RCV005906924
Malignant tumor of esophagus Conflicting classifications of pathogenicity rs34075659 RCV005906923
Melanoma Conflicting classifications of pathogenicity rs34075659 RCV005906929
Non-obstructive azoospermia Conflicting classifications of pathogenicity rs34075659 RCV000845247
Show/Hide Text Mining Associations (16)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aneuploidy Associate 36179046
Azoospermia Associate 31479588, 35172124, 36945018, 38403804
Azoospermia Nonobstructive Associate 38403804
Breast Neoplasms Inhibit 35616161
Colonic Neoplasms Associate 37370088
Infertility Associate 18706547
Infertility Male Associate 18706547
Lymphoma T Cell Cutaneous Associate 24850846
Neoplasm Metastasis Inhibit 29393474
Neoplasms Inhibit 26472282, 32958054, 35616161