{ "uniprot_canonical_ac": "O95072-1", "uniprot_ac": "O95072", "uniprot_id": "REC8_HUMAN", "mass": { "chemical_mass": 62614.0, "monoisotopic_mass": 62614.0 }, "refseq": { "ac": "NP_001041670", "name": "meiotic recombination protein REC8 homolog", "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 protein is a key component of the meiotic cohesion complex, which regulates sister chromatid cohesion and recombination between homologous chromosomes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041670" }, "gene_names": [ { "name": "REC8", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95072", "id": "O95072" }, { "name": "HR21spB; REC8L1; Rec8p", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041670", "id": "NP_001041670" }, { "name": "REC8L1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95072", "id": "O95072" }, { "name": "REC8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041670", "id": "NP_001041670" } ], "protein_names": [ { "name": "Meiotic recombination protein REC8 homolog", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95072" }, { "name": "Cohesin Rec8p", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95072" }, { "name": "meiotic recombination protein REC8 homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041670", "id": "NP_001041670" }, { "name": "recombination and sister chromatid cohesion protein homolog; human homolog of rad21, S. pombe; meiotic recombination protein REC8-like 1; cohesion rec8p; meiotic recombination and sister chromatid cohesion phosphoprotein of the rad21p family; cohesin Rec8p; REC8 homolog; kleisin-alpha", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041670", "id": "NP_001041670" } ], "function": [ { "annotation": "Centromeres are dismantled by foundational meiotic proteins Spo11 and Rec8.", "evidence": [ { "database": "RefSeq", "id": "NP_001041670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041670" }, { "database": "PubMed", "id": "33658710", "url": "https://glygen.org/publication/PubMed/33658710" } ] }, { "annotation": "Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes.", "evidence": [ { "database": "RefSeq", "id": "NP_001041670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041670" }, { "database": "PubMed", "id": "34707299", "url": "https://glygen.org/publication/PubMed/34707299" } ] }, { "annotation": "REC8 inhibits proliferation, migration and invasion of breast cancer cells by targeting CDC20.", "evidence": [ { "database": "RefSeq", "id": "NP_001041670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041670" }, { "database": "PubMed", "id": "35616161", "url": "https://glygen.org/publication/PubMed/35616161" } ] }, { "annotation": "REC8 promotes tumor migration, invasion and angiogenesis by targeting the PKA pathway in hepatocellular carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001041670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041670" }, { "database": "PubMed", "id": "33677646", "url": "https://glygen.org/publication/PubMed/33677646" } ] }, { "annotation": "REC8 regulates neuroblastoma cell proliferation, migration, invasion, and angiogenesis via STAT3/VEGF signaling. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001041670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041670" }, { "database": "PubMed", "id": "38105365", "url": "https://glygen.org/publication/PubMed/38105365" } ] }, { "annotation": "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 centromeres during anaphase II allows for sister chromatid separation in meiosis II (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O95072", "url": "https://www.uniprot.org/uniprot/O95072#function" } ] }, { "annotation": "The mouse ortholog of REC8L1 is required for proper synapsis of homologous chromosomes during meiosis", "evidence": [ { "database": "RefSeq", "id": "NP_001041670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041670" }, { "database": "PubMed", "id": "15935783", "url": "https://glygen.org/publication/PubMed/15935783" } ] }, { "annotation": "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 protein is a key component of the meiotic cohesion complex, which regulates sister chromatid cohesion and recombination between homologous chromosomes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001041670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041670" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "81.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100918", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100918" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "62.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100918", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100918" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "86.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100918", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100918" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "65.02", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100918", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100918" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "80.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100918", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100918" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "81.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100918", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100918" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "76.75", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100918", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100918" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "76.68", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100918", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100918" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100918", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100918" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "77.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100918", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100918" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "80.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100918", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100918" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "90.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100918", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100918" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "84.24", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100918", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100918" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95072", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95072" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O95072", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95072" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O95072", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95072" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O95072", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95072" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"length": 547, "header": "sp|O95072-1|REC8_HUMAN Isoform 1 of Meiotic recombination protein REC8 homolog OS=Homo sapiens OX=9606 GN=REC8 PE=1 SV=1 CANONICAL=O95072-1" }, "isoforms": [ { "isoform_ac": "A0A075B715-1", "url": "", "sequence": { "sequence": "XRRRRLLFWDKETQISPEKFQEQLQTRAHCWECPMVQPPERTIRGPAELFRTPTLSGWLPPELLGLWTHCAQPPPKALRRELPEEAAAEEERRKIEVPSEIEVPREALEPSVPLMVSLEISLEAAEEEKSRISLIPPEERWAWPEVEAPEAPALPVVPELPEVPMEMPLVLPPELELLSLEAVHRAVALELQANREPDFSSLVSPLSPRRMAARVFYLLLGECMHVCVCMWGRDTETRGPYRDSPDLPSPRLLTSALSATDSSRETRKAIWSPPDPAGAQIPLRLESIYKAARKPATSSKPRRASLGPAYLISECAFPAFLLSELLFKQKTSCFYY", "length": 336, "header": "tr|A0A075B715-1|A0A075B715_HUMAN Computationally mapped isoform of REC8 meiotic recombination protein OS=Homo sapiens OX=9606 GN=REC8 PE=1 SV=1 CANONICAL=O95072-1" }, "locus": { "chromosome": "14", "start_pos": 24180254, "end_pos": 24178126, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000559797.1", "url": "https://www.ensembl.org/id/ENST00000559797.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000452701.1", "url": "https://www.ensembl.org/id/ENSP00000452701.1" } ] } }, { "isoform_ac": "H0YM87-1", "url": "", "sequence": { "sequence": "METELPSLLLPNHLAMMETLEDAPDPFFGMMSVDPRLPSPFDIPQIRHLLEAAIPERVEEIPPEVPTEPREPERIPVTVLPPEAITILEAEPI", "length": 93, "header": "tr|H0YM87-1|REC8_HUMAN Computationally mapped isoform of Meiotic recombination protein REC8 homolog OS=Homo sapiens OX=9606 GN=REC8 PE=1 SV=1 CANONICAL=O95072-1" }, "locus": { "chromosome": "14", "start_pos": 24176883, "end_pos": 24173185, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000560501.1", "url": "https://www.ensembl.org/id/ENST00000560501.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000453506.1", "url": "https://www.ensembl.org/id/ENSP00000453506.1" } ] } }, { "isoform_ac": "H0YMV7-1", "url": "", "sequence": { "sequence": "MFYYPNVLQRHTGCFATIWLAATRGSRLVKREYLRVNVVKTCEEILNYVLVRVQPPQPGLPRPRFSLYLSAQLQ", "length": 74, "header": "tr|H0YMV7-1|H0YMV7_HUMAN Computationally mapped isoform of REC8 meiotic recombination protein OS=Homo sapiens OX=9606 GN=REC8 PE=1 SV=1 CANONICAL=O95072-1" }, "locus": { "chromosome": "14", "start_pos": 24172995, "end_pos": 24172553, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000557806.5", "url": "https://www.ensembl.org/id/ENST00000557806.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000453763.1", "url": "https://www.ensembl.org/id/ENSP00000453763.1" } ] } }, { "isoform_ac": "O95072-1", "url": "", "sequence": { "sequence": "MFYYPNVLQRHTGCFATIWLAATRGSRLVKREYLRVNVVKTCEEILNYVLVRVQPPQPGLPRPRFSLYLSAQLQIGVIRVYSQQCQYLVEDIQHILERLHRAQLQIRIDMETELPSLLLPNHLAMMETLEDAPDPFFGMMSVDPRLPSPFDIPQIRHLLEAAIPERVEEIPPEVPTEPREPERIPVTVLPPEAITILEAEPIRMLEIEGERELPEVSRRELDLLIAEEEEAILLEIPRLPPPAPAEVEGIGEALGPEELRLTGWEPGALLMEVTPPEELRLPAPPSPERRPPVPPPPRRRRRRRLLFWDKETQISPEKFQEQLQTRAHCWECPMVQPPERTIRGPAELFRTPTLSGWLPPELLGLWTHCAQPPPKALRRELPEEAAAEEERRKIEVPSEIEVPREALEPSVPLMVSLEISLEAAEEEKSRISLIPPEERWAWPEVEAPEAPALPVVPELPEVPMEMPLVLPPELELLSLEAVHRAVALELQANREPDFSSLVSPLSPRRMAARVFYLLLVLSAQQILHVKQEKPYGRLLIQPGPRFH", "length": 547, "header": "sp|O95072-1|REC8_HUMAN Isoform 1 of Meiotic recombination protein REC8 homolog OS=Homo sapiens OX=9606 GN=REC8 PE=1 SV=1 CANONICAL=O95072-1" }, "locus": { "chromosome": "14", "start_pos": 24180092, "end_pos": 24172553, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000620473.4", "url": "https://www.ensembl.org/id/ENST00000620473.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000482546.1", "url": "https://www.ensembl.org/id/ENSP00000482546.1" } ] } }, { "isoform_ac": "O95072-2", "url": "", "sequence": { "sequence": "MFYYPNVLQRHTGCFATIWLAATRGSRLVKREYLRVNVVKTCEEILNYVLVRVQPPQPGLPRPRFSLYLSAQLQIGVIRVYSQQCQYLVEDIQHILERLHRAQLQIRIDMETELPSLLLPNHLAMMETLEDAPDPFFGMMSVDPRLPSPFDIPQIRHLLEAAIPERVEEIPPEVPTEPREPERIPVTVLPPEAITILEAEPIRMLEIEGERELPEVSRRELDLLIAEEEEAILLEIPRLPPPAPAEVEGIGEALGPEELRLTGWEPGALLMRRPPVPPPPRRRRRRRLLFWDKETQISPEKFQEQLQTRAHCWECPMVQPPERTIRGPAELFRTPTLSGWLPPELLGLWTHCAQPPPKALRRELPEEAAAEEERRKIEVPSEIEVPREALEPSVPLMVSLEISLEAAEEEKSRISLIPPEERWAWPEVEAPEAPALPVVPELPEVPMEMPLVLPPELELLSLEAVHRAVALELQANREPDFSSLVSPLSPRRMAARVFYLLLVLSAQQILHVKQEKPYGRLLIQPGPRFH", "length": 530, "header": "sp|O95072-2|REC8_HUMAN Isoform 2 of Meiotic recombination protein REC8 homolog OS=Homo sapiens OX=9606 GN=REC8 PE=1 SV=1 CANONICAL=O95072-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O95072", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95072" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "phosphorylation": [ { "start_pos": 148, "end_pos": 148, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95072", "url": "https://www.uniprot.org/uniprot/O95072" } ], "site_lbl": "Ser148" }, { "start_pos": 286, "end_pos": 286, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95072", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95072" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ], "site_lbl": "Ser286" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Rec8p, a meiotic recombination and sister chromatid cohesion phosphoprotein of the Rad21p family conserved from fission yeast to humans.", "journal": "Mol. Cell. Biol.", "date": "1999", "authors": "Parisi S, McKay MJ, Molnar M, Thompson MA, van der Spek PJ, van Drunen-Schoenmaker E, Kanaar R, Lehmann E, Hoeijmakers JH, Kohli J", "evidence": [ { "database": "UniProtKB", "id": "O95072", "url": "https://www.uniprot.org/uniprot/O95072" } ], "reference": [ { "type": "PubMed", "id": "10207075", "url": "https://glygen.org/publication/PubMed/10207075" } ] }, { "title": "Histone H2AX is phosphorylated in an ATR-dependent manner in response to replicational stress.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Ward IM, Chen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1221632", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1221632" } ], "reference": [ { "type": "PubMed", "id": "11673449", "url": "https://glygen.org/publication/PubMed/11673449" } ] }, { "title": "Cohesin component dynamics during meiotic prophase I in mammalian oocytes.", "journal": "Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology", "date": "2004", "authors": "Prieto I, Tease C, Pezzi N, Buesa JM, Ortega S, Kremer L, Martinez A, Martinez-A C, Hulten MA, Barbero JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-1221632", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1221632" } ], "reference": [ { "type": "PubMed", "id": "15125634", "url": "https://glygen.org/publication/PubMed/15125634" } ] }, { "title": "Female-specific features of recombinational double-stranded DNA repair in relation to synapsis and telomere dynamics in human oocytes.", "journal": "Chromosoma", "date": "2004", "authors": "Roig I, Liebe B, Egozcue J, Cabero L, Garcia M, Scherthan H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1221632", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1221632" } ], "reference": [ { "type": "PubMed", "id": "15235794", "url": "https://glygen.org/publication/PubMed/15235794" } ] }, { "title": "Absence of mouse REC8 cohesin promotes synapsis of sister chromatids in meiosis.", "journal": "Developmental cell", "date": "2005", "authors": "Xu H, Beasley MD, Warren WD, van der Horst GT, McKay MJ", "evidence": [ { "database": "RefSeq", "id": "NP_001041670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041670" } ], "reference": [ { "type": "PubMed", "id": "15935783", "url": "https://glygen.org/publication/PubMed/15935783" } ] }, { "title": "ATR, BRCA1 and gammaH2AX localize to unsynapsed chromosomes at the pachytene stage in human oocytes.", "journal": "Reproductive biomedicine online", "date": "2009", "authors": "Garcia-Cruz R, Roig I, Robles P, Scherthan H, Garcia Caldes M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1221632", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1221632" } ], "reference": [ { "type": "PubMed", "id": "19146767", "url": "https://glygen.org/publication/PubMed/19146767" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "O95072-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95072-1" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "Dynamics of cohesin proteins REC8, STAG3, SMC1 beta and SMC3 are consistent with a role in sister chromatid cohesion during meiosis in human oocytes.", "journal": "Human reproduction (Oxford, England)", "date": "2010", "authors": "Garcia-Cruz R, Brieno MA, Roig I, Grossmann M, Velilla E, Pujol A, Cabero L, Pessarrodona A, Barbero JL, Garcia Caldes M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1221632", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1221632" } ], "reference": [ { "type": "PubMed", "id": "20634189", "url": "https://glygen.org/publication/PubMed/20634189" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95072", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95072" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Centromeres are dismantled by foundational meiotic proteins Spo11 and Rec8.", "journal": "Nature", "date": "2021", "authors": "Hou H, Kyriacou E, Thadani R, Klutstein M, Chapman JH, Cooper JP", "evidence": [ { "database": "RefSeq", "id": "NP_001041670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041670" } ], "reference": [ { "type": "PubMed", "id": "33658710", "url": "https://glygen.org/publication/PubMed/33658710" } ] }, { "title": "REC8 promotes tumor migration, invasion and angiogenesis by targeting the PKA pathway in hepatocellular carcinoma.", "journal": "Clinical and experimental medicine", "date": "2021", "authors": "Han J, Bai Y, Wang J, Xie XL, Li AD, Ding Q, Cui ZJ, Yin J, Jiang XY, Jiang HQ", "evidence": [ { "database": "RefSeq", "id": "NP_001041670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041670" } ], "reference": [ { "type": "PubMed", "id": "33677646", "url": "https://glygen.org/publication/PubMed/33677646" } ] }, { "title": "Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes.", "journal": "European journal of human genetics : EJHG", "date": "2022", "authors": "Tucker EJ, Bell KM, Robevska G, van den Bergen J, Ayers KL, Listyasari N, Faradz SM, Dulon J, Bakhshalizadeh S, Sreenivasan R, Nouyou B, Carre W, Akloul L, Duros S, Domin-Bernhard M, Belaud-Rotureau MA, Touraine P, Jaillard S, Sinclair AH", "evidence": [ { "database": "RefSeq", "id": "NP_001041670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041670" } ], "reference": [ { "type": "PubMed", "id": "34707299", "url": "https://glygen.org/publication/PubMed/34707299" } ] }, { "title": "REC8 inhibits proliferation, migration and invasion of breast cancer cells by targeting CDC20.", "journal": "Molecular medicine reports", "date": "2022", "authors": "He S, Liu D, Chen Z", "evidence": [ { "database": "RefSeq", "id": "NP_001041670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041670" } ], "reference": [ { "type": "PubMed", "id": "35616161", "url": "https://glygen.org/publication/PubMed/35616161" } ] }, { "title": "REC8 regulates neuroblastoma cell proliferation, migration, invasion, and angiogenesis via STAT3/VEGF signaling.", "journal": "Journal of the Egyptian National Cancer Institute", "date": "2023-12-18", "authors": "Wang Qiang, Fan Wei, Hao ZengHui, Liang Bingxue, Fan Meili, Zhao Zijian, Li Zhaozhu", "evidence": [ { "database": "RefSeq", "id": "NP_001041670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041670" } ], "reference": [ { "type": "PubMed", "id": "38105365", "url": "https://glygen.org/publication/PubMed/38105365" } ] }, { "title": "Centromere and telomere movements during early meiotic prophase of mouse and man are associated with the onset of chromosome pairing.", "journal": "The Journal of cell biology", "date": "1996", "authors": "Scherthan H, Weich S, Schwegler H, Heyting C, Harle M, Cremer T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1221632", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1221632" } ], "reference": [ { "type": "PubMed", "id": "8794855", "url": "https://glygen.org/publication/PubMed/8794855" } ] }, { "title": "Association of BRCA1 with Rad51 in mitotic and meiotic cells.", "journal": "Cell", "date": "1997", "authors": "Scully R, Chen J, Plug A, Xiao Y, Weaver D, Feunteun J, Ashley T, Livingston DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1221632", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1221632" } ], "reference": [ { "type": "PubMed", "id": "9008167", "url": "https://glygen.org/publication/PubMed/9008167" } ] }, { "title": "Protein-protein interactions in the synaptonemal complex.", "journal": "Molecular biology of the cell", "date": "1997", "authors": "Tarsounas M, Pearlman RE, Gasser PJ, Park MS, Moens PB", "evidence": [ { "database": "Reactome", "id": "R-HSA-1221632", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1221632" } ], "reference": [ { "type": "PubMed", "id": "9285814", "url": "https://glygen.org/publication/PubMed/9285814" } ] } ], "pathway": [ { "id": "hsa:9985", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9985", "resource": "KEGG Pathway" }, { "id": "R-HSA-1221632", "name": "Meiotic synapsis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1221632", "resource": "Reactome", "description": "Meiotic synapsis" } ], "orthologs": [ { "uniprot_canonical_ac": "Q6AYJ4-1", "protein_name": "Meiotic recombination protein REC8 homolog", "gene_name": "Rec8", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MFYYPNVLQRHTGCFATIWLAATRGSRLVKREYLKVNVVKTCEEILNYVLVRVQPPMPGLPRPRFSLYLSAQLQIGVIRVYFQQCQYLVEDIQHILEHLHRAQLRIRIDMEEADLPSLLLPNCLAMMETLEDAPEPFFGTMSVDPTLPSPFDIPQIRHLLEAATPEKIREETLPEATPEPRKPDRTLAMVQSPEVITLQEAEPIRMLRIEGEQDLPEISRGDLDLLIAEEDDAILLEERQRGRLLRQRRASPPLDESKEEPRALEGDGLVSSLSPPAPAQVEGIREPLPDQAFPPEVQKMPGWEPGVLLTEVTPPQELRLPAPPSIEKRPPSPQRPPRRRRRGRQLLFWDKETQISREKFEEQLQTGAHCCEYPVVQPPKRKLMSPAELFRTPTLSGWLSPELLALWTHCAQVPPRMLRQRPQLETEETVEEERVADKEERRKTEALSEIEVLREAQEPSGPLMLSSELSLEVAEEEKSRTSFIPPEERWAWIEERQPEPPALPMLPELPEVPMEMPPGPELLSSEAVLRAVALELQANREPDFSSLVPPLSSRKLASRVFYLLLVLSAQKILLVDQQKPYGRLLIRLGPKFP", "length": 593 }, "evidence": [ { "id": "45930883", "url": "http://www.informatics.jax.org/homology/45930883", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8C5S7-1", "protein_name": "Meiotic recombination protein REC8 homolog", "gene_name": "Rec8", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MFYYPNVLQRHTGCFATIWLAATRGSRLVKREYLNVNVVKTCEEILNYVLVRVQPPVAGLPRPRFSLYLSAQLQIGVIRVYFQQCQYLVEDIQHILEHLHRAQLRIRIDMEEADLPSLLLPNCLAMMETLEDAPEPFFGKMSVDPRLPSPFDIPQIRHLLEAATPEKTRKETLPEATPDPRKPDRTLATVQSPEVITLQEAEPIRMLQIEGEQDLPEISRGDLELLIAEKDDAILLEERQRGRLLRQRRASLPLDESREEPRALEGAGLVSALSPPAPAQVEGIQEALPGQVFPPEVQKMTGWEPGALLTEVTPPQELRLPAPPSTEKRLPSLQRPLPRRHRRRQLLFWDKETQISREKFEEQLQTGAHCWEYPVAQPPKRMLTSPAELFRTPTLSGWLPPELLGLWTHCAQVPQRMLRQRPQLETEETVEEERAADEEERRKTEALSEIEVLREAQEPSGPLMLSSELSLEAAEDEKSRTSLIPPEWWAWSEEGQPEPPALPMLPELPEVPMEMPPRPELSSEAVLRAVALKLQANKELDFSSLVPPLSPRKLASRVFYLLLVLSTQKILLVEQQKPYGPLLIRPGPKFP", "length": 591 }, "evidence": [ { "id": "45930883", "url": "http://www.informatics.jax.org/homology/45930883", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O95072", "url": "https://www.uniprot.org/uniprot/O95072" } ], "pmid": "" }, { "name": "cohesin complex", "id": "GO:0008278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008278", "evidence": [ { "database": "UniProtKB", "id": "O95072", "url": "https://www.uniprot.org/uniprot/O95072" } ], "pmid": "" }, { "name": "meiotic cohesin complex", "id": "GO:0030893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030893", "evidence": [ { "database": "UniProtKB", "id": "O95072", "url": "https://www.uniprot.org/uniprot/O95072" } ], "pmid": "" }, { "name": "male germ cell nucleus", "id": "GO:0001673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001673", "evidence": [ { "database": "UniProtKB", "id": "O95072", "url": "https://www.uniprot.org/uniprot/O95072" } ], "pmid": "" }, { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "O95072", "url": "https://www.uniprot.org/uniprot/O95072" } ], "pmid": "" }, { "name": "lateral element", "id": "GO:0000800", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000800", "evidence": [ { "database": "UniProtKB", "id": "O95072", "url": "https://www.uniprot.org/uniprot/O95072" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 13, "go_terms": [ { "name": "sister chromatid cohesion", "id": "GO:0007062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007062", "evidence": [ { "database": "UniProtKB", "id": "O95072", "url": "https://www.uniprot.org/uniprot/O95072" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "O95072", "url": 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