{ "uniprot_canonical_ac": "Q9P2W1-1", "uniprot_ac": "Q9P2W1", "uniprot_id": "HOP2_HUMAN", "mass": { "chemical_mass": 24906.0, "monoisotopic_mass": 24906.0 }, "refseq": { "ac": "NP_001242943", "name": "homologous-pairing protein 2 homolog isoform 3", "summary": "This gene encodes a protein that functions in meiotic recombination. It is a subunit of the PSMC3IP/MND1 complex, which interacts with PSMC3/TBP1 to stimulate DMC1- and RAD51-mediated strand exchange during meiosis. The protein encoded by this gene can also co-activate ligand-driven transcription mediated by estrogen, androgen, glucocorticoid, progesterone, and thyroid nuclear receptors. Mutations in this gene cause XX female gonadal dysgenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001242943" }, "gene_names": [ { "name": "PSMC3IP", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9P2W1", "id": "Q9P2W1" }, { "name": "GT198; HOP2; HUMGT198A; ODG3; TBPIP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001242943", "id": "NP_001242943" }, { "name": "HOP2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9P2W1", "id": "Q9P2W1" }, { "name": "PSMC3IP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001242943", "id": "NP_001242943" }, { "name": "TBPIP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9P2W1", "id": "Q9P2W1" }, { "name": "hCG_16948", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9P2W1", "id": "Q9P2W1" } ], "protein_names": [ { "name": "Homologous-pairing protein 2 homolog", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9P2W1" }, { "name": "Nuclear receptor coactivator GT198", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9P2W1" }, { "name": "PSMC3-interacting protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9P2W1" }, { "name": "Proteasome 26S ATPase subunit 3-interacting protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9P2W1" }, { "name": "TBP-1-interacting protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9P2W1" }, { "name": "Tat-binding protein 1-interacting protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9P2W1" }, { "name": "homologous-pairing protein 2 homolog isoform 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001242943", "id": "NP_001242943" }, { "name": "homologous-pairing protein 2 homolog; DBD-interacting; nuclear receptor coactivator GT198; TBP-1-interacting protein; tat-binding protein 1-interacting protein; proteasome 26S ATPase subunit 3-interacting protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001242943", "id": "NP_001242943" } ], "function": [ { "annotation": "A PSMC3IP/HOP2 mutation may cause XX ovarian dysgenesis through abolishing coactivation of estrogen-driven transcription", "evidence": [ { "database": "RefSeq", "id": "NP_001242943", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001242943" }, { "database": "PubMed", "id": "21963259", "url": "https://glygen.org/publication/PubMed/21963259" } ] }, { "annotation": "Data suggest that the human TBPIP/Hop2-Mnd1 complex may ensure proper pairing between homologous chromosomes through its stimulation of strand exchange during meiosis.", "evidence": [ { "database": "RefSeq", "id": "NP_001242943", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001242943" }, { "database": "PubMed", "id": "16407260", "url": "https://glygen.org/publication/PubMed/16407260" } ] }, { "annotation": "Identification of GT198 (TBPIP/Hop2) as a nuclear receptor coactivator. GT198 is phosphorylation regulated. GT198 interacts with nuclear receptors.", "evidence": [ { "database": "RefSeq", "id": "NP_001242943", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001242943" }, { "database": "PubMed", "id": "11739747", "url": "https://glygen.org/publication/PubMed/11739747" } ] }, { "annotation": "Oct4 confers stemness and radioresistance to head and neck squamous cell carcinoma by regulating the homologous recombination factors PSMC3IP and RAD54L.", "evidence": [ { "database": "RefSeq", "id": "NP_001242943", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001242943" }, { "database": "PubMed", "id": "34079088", "url": "https://glygen.org/publication/PubMed/34079088" } ] }, { "annotation": "Pathogenic variant in PSMC3IP gene is associated with premature ovarian insufficiency.", "evidence": [ { "database": "RefSeq", "id": "NP_001242943", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001242943" }, { "database": "PubMed", "id": "30406445", "url": "https://glygen.org/publication/PubMed/30406445" } ] }, { "annotation": "Plays an important role in meiotic recombination. Stimulates DMC1-mediated strand exchange required for pairing homologous chromosomes during meiosis. The complex PSMC3IP/MND1 binds DNA, stimulates the recombinase activity of DMC1 as well as DMC1 D-loop formation from double-strand DNA. This complex stabilizes presynaptic RAD51 and DMC1 filaments formed on single strand DNA to capture double-strand DNA. This complex stimulates both synaptic and presynaptic critical steps in RAD51 and DMC1-promoted homologous pairing. May inhibit HIV-1 viral protein TAT activity and modulate the activity of proteasomes through association with PSMC3. Acts as a tissue specific coactivator of hormone-dependent transcription mediated by nuclear receptors.", "evidence": [ { "database": "UniProtKB", "id": "Q9P2W1", "url": "https://www.uniprot.org/uniprot/Q9P2W1#function" }, { "database": "PubMed", "id": "21963259", "url": "https://glygen.org/publication/PubMed/21963259" }, { "database": "PubMed", "id": "10806355", "url": "https://glygen.org/publication/PubMed/10806355" }, { "database": "PubMed", "id": "16407260", "url": "https://glygen.org/publication/PubMed/16407260" } ] }, { "annotation": "Targeting PSMC3IP maybe a promising strategy for Hepatocellular carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001242943", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001242943" }, { "database": "PubMed", "id": "30362169", "url": "https://glygen.org/publication/PubMed/30362169" } ] }, { "annotation": "This gene encodes a protein that functions in meiotic recombination. It is a subunit of the PSMC3IP/MND1 complex, which interacts with PSMC3/TBP1 to stimulate DMC1- and RAD51-mediated strand exchange during meiosis. The protein encoded by this gene can also co-activate ligand-driven transcription mediated by estrogen, androgen, glucocorticoid, progesterone, and thyroid nuclear receptors. Mutations in this gene cause XX female gonadal dysgenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001242943", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001242943" } ] }, { "annotation": "Two novel biallelic mutations in PSMC3IP in a patient affected by premature ovarian insufficiency.", "evidence": [ { "database": "RefSeq", "id": "NP_001242943", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001242943" }, { "database": "PubMed", "id": "34878148", "url": "https://glygen.org/publication/PubMed/34878148" } ] } ], "disease": [ { "disease_id": "DOID:0080495", "recommended_name": { "id": "DOID:0080495", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080495", "name": "ovarian dysgenesis 3", "description": "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the PSMC3IP gene on chromosome 17q12-q21." }, "synonyms": [ { "id": "MONDO:0013689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013689", "name": "ovarian dysgenesis 3", "description": "Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene." }, { "id": "MONDO:0013689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013689", "name": "46 XX gonadal dysgenesis caused by mutation in PSMC3IP", "description": "" }, { "id": "MONDO:0013689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013689", "name": "PSMC3IP 46 XX gonadal dysgenesis", "description": "" }, { "id": "MONDO:0013689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013689", "name": "ovarian dysgenesis 3", "description": "" }, { "id": "MONDO:0013689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013689", "name": "ovarian dysgenesis type 3", "description": "" }, { "id": "MONDO:0013689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013689", "name": "ODG3", "description": "" }, { "id": "MIM:614324", "resource": "MIM", "url": "https://www.omim.org/entry/614324", "name": "Ovarian dysgenesis 3", "description": "Ovarian dysgenesis 3" } ], "evidence": [ { "id": "614324", "database": "MIM", "url": "https://www.omim.org/entry/614324" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "72.83", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131470", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131470" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "71.16", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131470", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131470" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "67.5", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131470", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131470" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "61.68", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000131470", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131470" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "81.32", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131470", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131470" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "77.68", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131470", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131470" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "59.22", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000131470", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131470" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "73.85", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131470", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131470" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "76.03", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131470", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131470" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "59.35", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000131470", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131470" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "67.17", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131470", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131470" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "78.12", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131470", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131470" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "76.33", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131470", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131470" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q9P2W1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9P2W1" } ], "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", 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"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 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"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 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"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", 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"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": "" 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"name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "Q9P2W1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9P2W1" } ], "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. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9P2W1" } ], "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": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "Q9P2W1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9P2W1" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q9P2W1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9P2W1" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "Q9P2W1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9P2W1" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "Q9P2W1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9P2W1" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "Q9P2W1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9P2W1" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "Q9P2W1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9P2W1" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is 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"NP_001242943", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001242943", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "K7EK12", "url": "https://www.uniprot.org/uniprot/K7EK12", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EK12-1", "url": "https://www.uniprot.org/uniprot/K7EK12-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ELD8", "url": "https://www.uniprot.org/uniprot/K7ELD8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ELD8-1", "url": "https://www.uniprot.org/uniprot/K7ELD8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQS1", "url": "https://www.uniprot.org/uniprot/K7EQS1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQS1-1", "url": "https://www.uniprot.org/uniprot/K7EQS1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ERB6", "url": "https://www.uniprot.org/uniprot/K7ERB6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ERB6-1", "url": "https://www.uniprot.org/uniprot/K7ERB6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9P2W1", "url": "https://www.uniprot.org/uniprot/Q9P2W1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9P2W1-1", "url": "https://www.uniprot.org/uniprot/Q9P2W1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9P2W1-2", "url": "https://www.uniprot.org/uniprot/Q9P2W1-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9P2W1-3", "url": "https://www.uniprot.org/uniprot/Q9P2W1-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSKGRAEAAAGAAGILLRYLQEQNRPYSSQDVFGNLQREHGLGKAVVVKTLEQLAQQGKIKEKMYGKQKIYFADQDQFDMVSDADLQVLDGKIVALTAKVQSLQQSCRYMEAELKELSSALTTPEMQKEIQELKKECAGYRERLKNIKAATNHVTPEEKEQVYRERQKYCKEWRKRKRMATELSDAILEGYPKSKKQFFEEVGIETDEDYNVTLPDP", "length": 217, "header": "sp|Q9P2W1-1|HOP2_HUMAN Isoform 1 of Homologous-pairing protein 2 homolog OS=Homo sapiens OX=9606 GN=PSMC3IP PE=1 SV=1 CANONICAL=Q9P2W1-1" }, "isoforms": [ { "isoform_ac": "K7EK12-1", "url": "", "sequence": { "sequence": "MSKGRAEAAAGAAGILLRYLQEQNRPYSSQDVFGNLQREHGLGKAVVVKTLEQLAQQGKIKEKMYGKQKIYFADQVRRTCADCHP", "length": 85, "header": "tr|K7EK12-1|HOP2_HUMAN Computationally mapped isoform of Homologous-pairing protein 2 homolog OS=Homo sapiens OX=9606 GN=PSMC3IP PE=1 SV=1 CANONICAL=Q9P2W1-1" }, "locus": { "chromosome": "17", "start_pos": 42577686, "end_pos": 42577183, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000588544.5", "url": "https://www.ensembl.org/id/ENST00000588544.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000465409.1", "url": "https://www.ensembl.org/id/ENSP00000465409.1" } ] } }, { "isoform_ac": "K7ELD8-1", "url": "", "sequence": { "sequence": "MSKGRAEAAAGAAGILLRYLQEQNRPYSSQDVFGNLQREHGLGKAVVVKTLEQLAQQGKIKEKMYGKQKIYFADQTLWRLWGPV", "length": 84, "header": "tr|K7ELD8-1|HOP2_HUMAN Computationally mapped isoform of Homologous-pairing protein 2 homolog OS=Homo sapiens OX=9606 GN=PSMC3IP PE=1 SV=1 CANONICAL=Q9P2W1-1" }, "locus": { "chromosome": "17", "start_pos": 42577686, "end_pos": 42574203, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000586337.5", "url": "https://www.ensembl.org/id/ENST00000586337.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000466031.1", "url": "https://www.ensembl.org/id/ENSP00000466031.1" } ] } }, { "isoform_ac": "K7EQS1-1", "url": "", "sequence": { "sequence": "MSKGRAEAAAGAAGILLRYLQEQNRPYSSQDVFGNLQREHGLGKAVVVKTLEQLAQQGKIKEKMYGKQKIYFADQDQFDMVSDADLQVLDGKIVALTAKVQSLQQSCRYMEAGRTG", "length": 116, "header": "tr|K7EQS1-1|HOP2_HUMAN Computationally mapped isoform of Homologous-pairing protein 2 homolog OS=Homo sapiens OX=9606 GN=PSMC3IP PE=1 SV=1 CANONICAL=Q9P2W1-1" }, "locus": { "chromosome": "17", "start_pos": 42577686, "end_pos": 42574088, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000590931.1", "url": "https://www.ensembl.org/id/ENST00000590931.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000467952.1", "url": "https://www.ensembl.org/id/ENSP00000467952.1" } ] } }, { "isoform_ac": "K7ERB6-1", "url": "", "sequence": { "sequence": "MYGKQKIYFADQDQFDMVSDADLQVLDGKIVALTAKVQSLQQSCRYMEAELKELSSALTTPEMQKEIQELKKECAGYRERLKNIKAATNHVTPEEKEQVYRERQKYCKEWRKRKRMATELSDAILEGYPKSKKQFFEEVGIETDEDYNVTLPDP", "length": 154, "header": "tr|K7ERB6-1|HOP2_HUMAN Computationally mapped isoform of Homologous-pairing protein 2 homolog OS=Homo sapiens OX=9606 GN=PSMC3IP PE=1 SV=1 CANONICAL=Q9P2W1-1" }, "locus": { "chromosome": "17", "start_pos": 42577248, "end_pos": 42572971, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000587209.5", "url": "https://www.ensembl.org/id/ENST00000587209.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000468188.1", "url": "https://www.ensembl.org/id/ENSP00000468188.1" } ] } }, { "isoform_ac": "Q9P2W1-1", "url": "", "sequence": { "sequence": "MSKGRAEAAAGAAGILLRYLQEQNRPYSSQDVFGNLQREHGLGKAVVVKTLEQLAQQGKIKEKMYGKQKIYFADQDQFDMVSDADLQVLDGKIVALTAKVQSLQQSCRYMEAELKELSSALTTPEMQKEIQELKKECAGYRERLKNIKAATNHVTPEEKEQVYRERQKYCKEWRKRKRMATELSDAILEGYPKSKKQFFEEVGIETDEDYNVTLPDP", "length": 217, "header": "sp|Q9P2W1-1|HOP2_HUMAN Isoform 1 of Homologous-pairing protein 2 homolog OS=Homo sapiens OX=9606 GN=PSMC3IP PE=1 SV=1 CANONICAL=Q9P2W1-1" }, "locus": { "chromosome": "17", "start_pos": 42577686, "end_pos": 42572971, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000393795.8", "url": "https://www.ensembl.org/id/ENST00000393795.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000377384.2", "url": "https://www.ensembl.org/id/ENSP00000377384.2" } ] } }, { "isoform_ac": "Q9P2W1-2", "url": "", "sequence": { "sequence": "MSKGRAEAAAGAAGILLRYLQEQNRPYSSQDVFGNLQREHGLGKAVVVKTLEQLAQQGKIKEKMYGKQKIYFADQDQFDMVSDADLQVLDGKIVALTAKVQSLQQSCRYMEAEMQKEIQELKKECAGYRERLKNIKAATNHVTPEEKEQVYRERQKYCKEWRKRKRMATELSDAILEGYPKSKKQFFEEVGIETDEDYNVTLPDP", "length": 205, "header": "sp|Q9P2W1-2|HOP2_HUMAN Isoform 2 of Homologous-pairing protein 2 homolog OS=Homo sapiens OX=9606 GN=PSMC3IP PE=1 SV=1 CANONICAL=Q9P2W1-1" }, "locus": { "chromosome": "17", "start_pos": 42577686, "end_pos": 42572971, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000253789.9", "url": "https://www.ensembl.org/id/ENST00000253789.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000253789.4", "url": "https://www.ensembl.org/id/ENSP00000253789.4" } ] } }, { "isoform_ac": "Q9P2W1-3", "url": "", "sequence": { "sequence": "MQKEIQELKKECAGYRERLKNIKAATNHVTPEEKEQVYRERQKYCKEWRKRKRMATELSDAILEGYPKSKKQFFEEVGIETDEDYNVTLPDP", "length": 92, "header": "sp|Q9P2W1-3|HOP2_HUMAN Isoform 3 of Homologous-pairing protein 2 homolog OS=Homo sapiens OX=9606 GN=PSMC3IP PE=1 SV=1 CANONICAL=Q9P2W1-1" }, "locus": { "chromosome": "17", "start_pos": 42573585, "end_pos": 42572971, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000590760.5", "url": "https://www.ensembl.org/id/ENST00000590760.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000466381.1", "url": "https://www.ensembl.org/id/ENSP00000466381.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q9P2W1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9P2W1" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 29, "end_pos": 29, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9P2W1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9P2W1" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ], "site_lbl": "Ser29" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "hMSH5: a human MutS homologue that forms a novel heterodimer with hMSH4 and is expressed during spermatogenesis.", "journal": "Cancer research", "date": "1999", "authors": "Bocker T, Barusevicius A, Snowden T, Rasio D, Guerrette S, Robbins D, Schmidt C, Burczak J, Croce CM, Copeland T, Kovatich AJ, Fishel R", "evidence": [ { "database": "Reactome", "id": "R-HSA-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "10029069", "url": "https://glygen.org/publication/PubMed/10029069" } ] }, { "title": "Heteroduplex formation by human Rad51 protein: effects of DNA end-structure, hRP-A and hRad52.", "journal": "Journal of molecular biology", "date": "1999", "authors": "Baumann P, West SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "10438626", "url": "https://glygen.org/publication/PubMed/10438626" } ] }, { "title": "The meiosis-specific recombinase hDmc1 forms ring structures and interacts with hRad51.", "journal": "The EMBO journal", "date": "1999", "authors": "Masson JY, Davies AA, Hajibagheri N, Van Dyck E, Benson FE, Stasiak AZ, Stasiak A, West SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "10562567", "url": "https://glygen.org/publication/PubMed/10562567" } ] }, { "title": "Association of the Bloom syndrome protein with topoisomerase IIIalpha in somatic and meiotic cells.", "journal": "Cancer research", "date": "2000", "authors": "Johnson FB, Lombard DB, Neff NF, Mastrangelo MA, Dewolf W, Ellis NA, Marciniak RA, Yin Y, Jaenisch R, Guarente L", "evidence": [ { "database": "Reactome", "id": "R-HSA-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "10728666", "url": "https://glygen.org/publication/PubMed/10728666" } ] }, { "title": "The Bloom's syndrome gene product interacts with topoisomerase III.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Wu L, Davies SL, North PS, Goulaouic H, Riou JF, Turley H, Gatter KC, Hickson ID", "evidence": [ { "database": "Reactome", "id": "R-HSA-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "10734115", "url": "https://glygen.org/publication/PubMed/10734115" } ] }, { "title": "Molecular cloning and characterization of a human homologue of TBPIP, a BRCA1 locus-related gene.", "journal": "Gene", "date": "2000", "authors": "Nakamura T., Tanaka T., Sato M., Yagi H., Ijichi H., Hakuba A.", "evidence": [ { "database": "UniProtKB", "id": "Q9P2W1", "url": "https://www.uniprot.org/uniprot/Q9P2W1" } ], "reference": [ { "type": "PubMed", "id": "10806355", "url": "https://glygen.org/publication/PubMed/10806355" } ] }, { "title": "MSH4 acts in conjunction with MLH1 during mammalian meiosis.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2000", "authors": "Santucci-Darmanin S, Walpita D, Lespinasse F, Desnuelle C, Ashley T, Paquis-Flucklinger V", "evidence": [ { "database": "Reactome", "id": "R-HSA-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "10928988", "url": "https://glygen.org/publication/PubMed/10928988" } ] }, { "title": "The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2.", "journal": "Nucleic acids research", "date": "2001", "authors": "Kondo E, Horii A, Fukushige S", "evidence": [ { "database": "Reactome", "id": "R-HSA-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "11292842", "url": "https://glygen.org/publication/PubMed/11292842" } ] }, { "title": "Identification and characterization of a tissue-specific coactivator, GT198, that interacts with the DNA-binding domains of nuclear receptors.", "journal": "Mol. Cell. Biol.", "date": "2002", "authors": "Ko L, Cardona GR, Henrion-Caude A, Chin WW", "evidence": [ { "database": "UniProtKB", "id": "Q9P2W1", "url": "https://www.uniprot.org/uniprot/Q9P2W1" }, { "database": "RefSeq", "id": "NP_001242943", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001242943" } ], "reference": [ { "type": "PubMed", "id": "11739747", "url": "https://glygen.org/publication/PubMed/11739747" } ] }, { "title": "Human meiotic recombinase Dmc1 promotes ATP-dependent homologous DNA strand exchange.", "journal": "Nature", "date": "2004", "authors": "Sehorn MG, Sigurdsson S, Bussen W, Unger VM, Sung P", "evidence": [ { "database": "Reactome", "id": "R-HSA-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "15164066", "url": "https://glygen.org/publication/PubMed/15164066" } ] }, { "title": "hMSH4-hMSH5 recognizes Holliday Junctions and forms a meiosis-specific sliding clamp that embraces homologous chromosomes.", "journal": "Molecular cell", "date": "2004", "authors": "Snowden T, Acharya S, Butz C, Berardini M, Fishel R", "evidence": [ { "database": "Reactome", "id": "R-HSA-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "15304223", "url": "https://glygen.org/publication/PubMed/15304223" } ] }, { "title": "Temporal progression of recombination in human males.", "journal": "Molecular human reproduction", "date": "2005", "authors": "Oliver-Bonet M, Turek PJ, Sun F, Ko E, Martin RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "16123081", "url": "https://glygen.org/publication/PubMed/16123081" } ] }, { "title": "A histone H3 methyltransferase controls epigenetic events required for meiotic prophase.", "journal": "Nature", "date": "2005", "authors": "Hayashi K, Yoshida K, Matsui Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "16292313", "url": "https://glygen.org/publication/PubMed/16292313" } ] }, { "title": "Expression of the MutL homologue hMLH3 in human cells and its role in DNA mismatch repair.", "journal": "Cancer research", "date": "2005", "authors": "Cannavo E, Marra G, Sabates-Bellver J, Menigatti M, Lipkin SM, Fischer F, Cejka P, Jiricny J", "evidence": [ { "database": "Reactome", "id": "R-HSA-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "16322221", "url": "https://glygen.org/publication/PubMed/16322221" } ] }, { "title": "Stimulation of DNA strand exchange by the human TBPIP/Hop2-Mnd1 complex.", "journal": "J. Biol. Chem.", "date": "2006", "authors": "Enomoto R, Kinebuchi T, Sato M, Yagi H, Kurumizaka H, Yokoyama S", "evidence": [ { "database": "UniProtKB", "id": "Q9P2W1", "url": "https://www.uniprot.org/uniprot/Q9P2W1" }, { "database": "RefSeq", "id": "NP_001242943", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001242943" } ], "reference": [ { "type": "PubMed", "id": "16407260", "url": "https://glygen.org/publication/PubMed/16407260" } ] }, { "title": "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ", "evidence": [ { "database": "iPTMnet", "id": "Q9P2W1-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9P2W1-1" } ], "reference": [ { "type": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ] }, { "title": "Interactions between human BRCA2 protein and the meiosis-specific recombinase DMC1.", "journal": "The EMBO journal", "date": "2007", "authors": "Thorslund T, Esashi F, West SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "17541404", "url": "https://glygen.org/publication/PubMed/17541404" } ] }, { "title": "Genomic and proteomic profiling I: leiomyomas in African Americans and Caucasians.", "journal": "Reprod. Biol. 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