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REC8 (REC8 meiotic recombination protein)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9985
Gene nameGene Name - the full gene name approved by the HGNC.
REC8 meiotic recombination protein
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
REC8
SynonymsGene synonyms aliases
HR21spB, REC8L1, Rec8p
ChromosomeChromosome number
14
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q12
SummarySummary 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
SNPsSNP information provided by dbSNP.
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
miRNAmiRNA information provided by mirtarbase database.
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.
GO ID Ontology Definition Evidence Reference
GO:0000778 Component Condensed nuclear chromosome kinetochore IEA
GO:0000795 Component Synaptonemal complex IBA 21873635
GO:0000800 Component Lateral element IEA
GO:0001556 Process Oocyte maturation IEA
GO:0001673 Component Male germ cell nucleus IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
MFYYPNVLQRHTGCFATIWLAATRGSRLVKREYLRVNVVKTCEEILNYVLVRVQPPQPGL
PRPRFSLYLSAQLQIGVIRVYSQQCQYLVEDIQHILERLHRAQLQIRIDMETELPS
LLLP
NHLAMMETLEDAPDPFFGMMSVDPRLPSPFDIPQIRHLLEAAIPERVEEIPPEVPTEPRE
PERIPVTVLPPEAITILEAEPIRMLEIEGERELPEVSRRELDLLIAEEEEAILLEIPRLP
PPAPAEVEGIGEALGPEELRLTGWEPGALLMEVTPPEELRLPAPPSPERRPPVPPPPRRR
RRRRLLFWDKETQISPEKFQEQLQTRAHCWECPMVQPPERTIRGPAELFRTPTLSGWLPP
ELLGLWTHCAQPPPKALRRELPEEAAAEEERRKIEVPSEIEVPREALEPSVPLMVSLEIS
LEAAEEEKSRISLIPPEERWAWPEVEAPEAPALPVVPELPEVPMEMPLVLPPELELLSLE
AVHRAVALELQANREPDFSSLVSPLSPRRMAARVFYLLLVLSAQQILHVKQEKPYGRLLI
QPGPRF
H
Sequence length 547
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
  Oocyte meiosis  
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Melanoma melanoma rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050 16778180
Prostate cancer Malignant neoplasm of prostate rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 17013881
Unknown
Disease name Disease term dbSNP ID References
Prostatic neoplasms Prostatic Neoplasms 17013881

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