REC8 (REC8 meiotic recombination protein)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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9985 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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REC8 |
SynonymsGene synonyms aliases
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HR21spB, REC8L1, Rec8p |
ChromosomeChromosome number
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14 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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14q12 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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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 |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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 |
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Sequence |
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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.
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Associated diseases
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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 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Prostatic neoplasms |
Prostatic Neoplasms |
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17013881 |
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| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412 |