REC8 (REC8 meiotic recombination protein)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9985
Gene name Gene Name - the full gene name approved by the HGNC.
REC8 meiotic recombination protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
REC8
Synonyms (NCBI Gene) Gene synonyms aliases
HR21spB, REC8L1, Rec8p
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(34)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608193 16879 ENSG00000100918
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
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  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Non-obstructive azoospermia non-obstructive azoospermia N/A N/A ClinVar
Show/Hide Text Mining Associations (16)
Associations from Text Mining Disease 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