{ "uniprot_canonical_ac": "O95718-3", "uniprot_ac": "O95718", "uniprot_id": "ERR2_HUMAN", "mass": { "chemical_mass": 48054.0, "monoisotopic_mass": 48054.0 }, "refseq": { "ac": "NP_004443", "name": "steroid hormone receptor ERR2 isoform 1", "summary": "This gene encodes a protein with similarity to the estrogen receptor. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004443" }, "gene_names": [ { "name": "ESRRB", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95718", "id": "O95718" }, { "name": "DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2; ESRL2; NR3B2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004443", "id": "NP_004443" }, { "name": "ERRB2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95718", "id": "O95718" }, { "name": "ESRL2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95718", "id": "O95718" }, { "name": "ESRRB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004443", "id": "NP_004443" }, { "name": "NR3B2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95718", "id": "O95718" } ], "protein_names": [ { "name": "Steroid hormone receptor ERR2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95718" }, { "name": "ERR beta-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95718" }, { "name": "ERR-beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95718" }, { "name": "Estrogen receptor-like 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95718" }, { "name": "Estrogen-related receptor beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95718" }, { "name": "Nuclear receptor subfamily 3 group B member 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95718" }, { "name": "steroid hormone receptor ERR2 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004443", "id": "NP_004443" }, { "name": "steroid hormone receptor ERR2; estrogen receptor-like 2; nuclear receptor ERRB2; estrogen-related nuclear receptor beta; orphan nuclear receptor; nuclear receptor subfamily 3 group B member 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004443", "id": "NP_004443" } ], "function": [ { "annotation": "A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004443", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004443" }, { "database": "PubMed", "id": "35101039", "url": "https://glygen.org/publication/PubMed/35101039" } ] }, { "annotation": "ESRRB Inhibits the TGFbeta Signaling Pathway to Drive Cell Proliferation in Cervical Cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_004443", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004443" }, { "database": "PubMed", "id": "37350664", "url": "https://glygen.org/publication/PubMed/37350664" } ] }, { "annotation": "Estrogen-related receptors: novel potential regulators of osteoarthritis pathogenesis. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004443", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004443" }, { "database": "PubMed", "id": "33446092", "url": "https://glygen.org/publication/PubMed/33446092" } ] }, { "annotation": "Expression of estrogen-related receptors in ovarian cancer and impact on survival.", "evidence": [ { "database": "RefSeq", "id": "NP_004443", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004443" }, { "database": "PubMed", "id": "34089362", "url": "https://glygen.org/publication/PubMed/34089362" } ] }, { "annotation": "Long Noncoding RNA ACTA2-AS1 Inhibits Cell Growth and Facilitates Apoptosis in Gastric Cancer by Binding with miR-6720-5p to Regulate ESRRB.", "evidence": [ { "database": "RefSeq", "id": "NP_004443", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004443" }, { "database": "PubMed", "id": "37222961", "url": "https://glygen.org/publication/PubMed/37222961" } ] }, { "annotation": "This gene encodes a protein with similarity to the estrogen receptor. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_004443", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004443" } ] }, { "annotation": "Transcription factor that binds a canonical ESRRB recognition (ERRE) sequence 5'TCAAGGTCA-3' localized on promoter and enhancer of targets genes regulating their expression or their transcription activity. Positively regulates ESR1 transcriptional activity upon E2 stimulation.", "evidence": [ { "database": "UniProtKB", "id": "O95718", "url": "https://www.uniprot.org/uniprot/O95718#function" }, { "database": "PubMed", "id": "19755138", "url": "https://glygen.org/publication/PubMed/19755138" }, { "database": "UniProtKB", "id": "Q61539", "url": "https://www.uniprot.org/uniprot/Q61539#function" }, { "database": "PubMed", "id": "17920186", "url": "https://glygen.org/publication/PubMed/17920186" }, { "database": "PubMed", "id": "23836911", "url": "https://glygen.org/publication/PubMed/23836911" } ] } ], "disease": [ { "disease_id": "DOID:0110493", "recommended_name": { "id": "DOID:0110493", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110493", "name": "autosomal recessive nonsyndromic deafness 35", "description": "An autosomal recessive nonsyndromic deafness that is characterized severe to profound hearing loss and has_material_basis_in mutation in the ESRRB gene on chromosome 14q24." }, "synonyms": [ { "id": "DOID:0110493", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110493", "name": "DFNB35", "description": "" }, { "id": "DOID:0110493", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110493", "name": "autosomal recessive deafness 35", "description": "" }, { "id": "MONDO:0012060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012060", "name": "autosomal recessive nonsyndromic hearing loss 35", "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene." }, { "id": "MONDO:0012060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012060", "name": "DFNB35", "description": "" }, { "id": "MONDO:0012060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012060", "name": "ESRRB autosomal recessive nonsyndromic deafness", "description": "" }, { "id": "MONDO:0012060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012060", "name": "autosomal recessive deafness 35", "description": "" }, { "id": "MONDO:0012060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012060", "name": "autosomal recessive nonsyndromic deafness 35", "description": "" }, { "id": "MONDO:0012060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012060", "name": "autosomal recessive nonsyndromic deafness caused by mutation in ESRRB", "description": "" }, { "id": "MONDO:0012060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012060", "name": "autosomal recessive nonsyndromic deafness type 35", "description": "" }, { "id": "MONDO:0012060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012060", "name": "deafness, autosomal recessive 35", "description": "" }, { "id": "MONDO:0012060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012060", "name": "deafness, autosomal recessive type 35", "description": "" }, { "id": "MIM:608565", "resource": "MIM", "url": "https://www.omim.org/entry/608565", "name": "Deafness, autosomal recessive, 35", "description": "Deafness, autosomal recessive, 35" } ], "evidence": [ { "id": "608565", "database": "MIM", "url": "https://www.omim.org/entry/608565" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 185, "end_pos": 185, "sequence_org": "Y", "sequence_mut": "A", "comment": "6-fold decrease in DNA-binding affinity.", "evidence": [ { "database": "UniProtKB", "id": "O95718", "url": "https://www.uniprot.org/uniprot/O95718" }, { "database": "PubMed", "id": "12654265", "url": "https://glygen.org/publication/PubMed/12654265" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "71.94", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000119715", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119715" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "50.83", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000119715", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119715" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "79.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000119715", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119715" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "52.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000119715", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119715" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "43.93", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000119715", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119715" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "47.64", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000119715", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119715" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "50.23", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000119715", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119715" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "47.04", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000119715", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119715" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "50.64", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000119715", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119715" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "54.88", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000119715", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000119715" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95718", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95718" } ], "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, 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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": "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", 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"resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95718", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95718" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "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": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O95718", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95718" } ], "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": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O95718", "url": 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"Protein" ] }, { "id": "O95718", "url": "https://www.uniprot.org/uniprot/O95718", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95718-1", "url": "https://www.uniprot.org/uniprot/O95718-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95718-2", "url": "https://www.uniprot.org/uniprot/O95718-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95718-3", "url": "https://www.uniprot.org/uniprot/O95718-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSSDDRHLGSSCGSFIKTEPSSPSSGIDALSHHSPSGSSDASGGFGLALGTHANGLDSPPMFAGAGLGGTPCRKSYEDCASGIMEDSAIKCEYMLNAIPKRLCLVCGDIASGYHYGVASCEACKAFFKRTIQGNIEYSCPATNECEITKRRRKSCQACRFMKCLKVGMLKEGVRLDRVRGGRQKYKRRLDSESSPYLSLQISPPAKKPLTKIVSYLLVAEPDKLYAMPPPGMPEGDIKALTTLCDLADRELVVIIGWAKHIPGFSSLSLGDQMSLLQSAWMEILILGIVYRSLPYDDKLVYAEDYIMDEEHSRLAGLLELYRAILQLVRRYKKLKVEKEEFVTLKALALANSDSMYIEDLEAVQKLQDLLHEALQDYELSQRHEEPWRTGKLLLTLPLLRQTAAKAVQHFYSVKLQGKVPMHKLFLEMLEAKV", "length": 433, "header": "sp|O95718-3|ERR2_HUMAN Isoform 3 of Steroid hormone receptor ERR2 OS=Homo sapiens OX=9606 GN=ESRRB PE=1 SV=3 CANONICAL=O95718-3" }, "isoforms": [ { "isoform_ac": "O95718-1", "url": "", "sequence": { "sequence": "MSSDDRHLGSSCGSFIKTEPSSPSSGIDALSHHSPSGSSDASGGFGLALGTHANGLDSPPMFAGAGLGGTPCRKSYEDCASGIMEDSAIKCEYMLNAIPKRLCLVCGDIASGYHYGVASCEACKAFFKRTIQGNIEYSCPATNECEITKRRRKSCQACRFMKCLKVGMLKEGVRLDRVRGGRQKYKRRLDSESSPYLSLQISPPAKKPLTKIVSYLLVAEPDKLYAMPPPGMPEGDIKALTTLCDLADRELVVIIGWAKHIPGFSSLSLGDQMSLLQSAWMEILILGIVYRSLPYDDKLVYAEDYIMDEEHSRLAGLLELYRAILQLVRRYKKLKVEKEEFVTLKALALANSDSMYIEDLEAVQKLQDLLHEALQDYELSQRHEEPWRTGKLLLTLPLLRQTAAKAVQHFYSVKLQGKVPMHKLFLEMLEAKVGQEQLRGSPKDERMSSHDGKCPFQSAAFTSRDQSNSPGIPNPRPSSPTPLNERGRQISPSTRTPGGQGKHLWLTM", "length": 508, "header": "sp|O95718-1|ERR2_HUMAN Isoform 1 of Steroid hormone receptor ERR2 OS=Homo sapiens OX=9606 GN=ESRRB PE=1 SV=3 CANONICAL=O95718-3" }, "locus": { "chromosome": "14", "start_pos": 76500718, "end_pos": 76439354, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000380887.7", "url": "https://www.ensembl.org/id/ENST00000380887.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000370270.2", "url": "https://www.ensembl.org/id/ENSP00000370270.2" } ] } }, { "isoform_ac": "O95718-2", "url": "", "sequence": { "sequence": "MSSDDRHLGSSCGSFIKTEPSSPSSGIDALSHHSPSGSSDASGGFGLALGTHANGLDSPPMFAGAGLGGTPCRKSYEDCASGIMEDSAIKCEYMLNAIPKRLCLVCGDIASGYHYGVASCEACKAFFKRTIQGNIEYSCPATNECEITKRRRKSCQACRFMKCLKVGMLKEGVRLDRVRGGRQKYKRRLDSESSPYLSLQISPPAKKPLTKIVSYLLVAEPDKLYAMPPPGMPEGDIKALTTLCDLADRELVVIIGWAKHIPGFSSLSLGDQMSLLQSAWMEILILGIVYRSLPYDDKLVYAEDYIMDEEHSRLAGLLELYRAILQLVRRYKKLKVEKEEFVTLKALALANSDSMYIEDLEAVQKLQDLLHEALQDYELSQRHEEPWRTGKLLLTLPLLRQTAAKAVQHFYSVKLQGKVPMHKLFLEMLEAKAWARADSLQEWRPLEQVPSPLHRATKRQHVHFLTPLPPPPSVAWVGTAQAGYHLEVFLPQRAGWPRAA", "length": 500, "header": "sp|O95718-2|ERR2_HUMAN Isoform 2 of Steroid hormone receptor ERR2 OS=Homo sapiens OX=9606 GN=ESRRB PE=1 SV=3 CANONICAL=O95718-3" }, "locus": { "chromosome": "14", "start_pos": 76499879, "end_pos": 76439354, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000505752.6", "url": "https://www.ensembl.org/id/ENST00000505752.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000423004.1", "url": "https://www.ensembl.org/id/ENSP00000423004.1" } ] } }, { "isoform_ac": "O95718-3", "url": "", "sequence": { "sequence": "MSSDDRHLGSSCGSFIKTEPSSPSSGIDALSHHSPSGSSDASGGFGLALGTHANGLDSPPMFAGAGLGGTPCRKSYEDCASGIMEDSAIKCEYMLNAIPKRLCLVCGDIASGYHYGVASCEACKAFFKRTIQGNIEYSCPATNECEITKRRRKSCQACRFMKCLKVGMLKEGVRLDRVRGGRQKYKRRLDSESSPYLSLQISPPAKKPLTKIVSYLLVAEPDKLYAMPPPGMPEGDIKALTTLCDLADRELVVIIGWAKHIPGFSSLSLGDQMSLLQSAWMEILILGIVYRSLPYDDKLVYAEDYIMDEEHSRLAGLLELYRAILQLVRRYKKLKVEKEEFVTLKALALANSDSMYIEDLEAVQKLQDLLHEALQDYELSQRHEEPWRTGKLLLTLPLLRQTAAKAVQHFYSVKLQGKVPMHKLFLEMLEAKV", "length": 433, "header": "sp|O95718-3|ERR2_HUMAN Isoform 3 of Steroid hormone receptor ERR2 OS=Homo sapiens OX=9606 GN=ESRRB PE=1 SV=3 CANONICAL=O95718-3" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 10, "end_pos": 10, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95718", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95718" }, { "database": "PubMed", "id": "27363015", "url": "https://glygen.org/publication/PubMed/27363015" } ], "site_lbl": "Ser10" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Identification of two hERR2-related novel nuclear receptors utilizing bioinformatics and inverse PCR.", "journal": "Gene", "date": "1999", "authors": "Chen F, Zhang Q, McDonald T, Davidoff M J, Bailey W, Bai C, Liu Q, Caskey C T", "evidence": [ { "database": "UniProtKB", "id": "O95718", "url": "https://www.uniprot.org/uniprot/O95718" } ], "reference": [ { "type": "PubMed", "id": "10072763", "url": "https://glygen.org/publication/PubMed/10072763" } ] }, { "title": "Ligand-dependent transcription activation by nuclear receptors requires the DRIP complex.", "journal": "Nature", "date": "1999", "authors": "Rachez C, Lemon BD, Suldan Z, Bromleigh V, Gamble M, Naar AM, Erdjument-Bromage H, Tempst P, Freedman LP", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "10235266", "url": "https://glygen.org/publication/PubMed/10235266" } ] }, { "title": "Multimeric Coactivator Complexes for Steroid/Nuclear Receptors.", "journal": "Trends in endocrinology and metabolism: TEM", "date": "1999", "authors": "Freedman LP", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "10542397", "url": "https://glygen.org/publication/PubMed/10542397" } ] }, { "title": "Biological roles and mechanistic actions of co-repressor complexes.", "journal": "Journal of cell science", "date": "2002", "authors": "Jepsen K, Rosenfeld MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "11865025", "url": "https://glygen.org/publication/PubMed/11865025" } ] }, { "title": "Monomeric complex of human orphan estrogen related receptor-2 with DNA: a pseudo-dimer interface mediates extended half-site recognition.", "journal": "Journal of molecular biology", "date": "2003", "authors": "Gearhart MD, Holmbeck SM, Evans RM, Dyson HJ, Wright PE", "evidence": [ { "database": "UniProtKB", "id": "O95718", "url": "https://www.uniprot.org/uniprot/O95718" } ], "reference": [ { "type": "PubMed", "id": "12654265", "url": "https://glygen.org/publication/PubMed/12654265" } ] }, { "title": "A unified nomenclature for protein subunits of mediator complexes linking transcriptional regulators to RNA polymerase II.", "journal": "Molecular cell", "date": "2004", "authors": "Bourbon HM, Aguilera A, Ansari AZ, Asturias FJ, Berk AJ, Bjorklund S, Blackwell TK, Borggrefe T, Carey M, Carlson M, Conaway JW, Conaway RC, Emmons SW, Fondell JD, Freedman LP, Fukasawa T, Gustafsson CM, Han M, He X, Herman PK, Hinnebusch AG, Holmberg S, Holstege FC, Jaehning JA, Kim YJ, Kuras L, Leutz A, Lis JT, Meisterernest M, Naar AM, Nasmyth K, Parvin JD, Ptashne M, Reinberg D, Ronne H, Sadowski I, Sakurai H, Sipiczki M, Sternberg PW, Stillman DJ, Strich R, Struhl K, Svejstrup JQ, Tuck S, Winston F, Roeder RG, Kornberg RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "15175151", "url": "https://glygen.org/publication/PubMed/15175151" } ] }, { "title": "Dynamic regulation of pol II transcription by the mammalian Mediator complex.", "journal": "Trends in biochemical sciences", "date": "2005", "authors": "Malik S, Roeder RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "15896744", "url": "https://glygen.org/publication/PubMed/15896744" } ] }, { "title": "Identification and characterization of two novel splicing isoforms of human estrogen-related receptor beta.", "journal": "J. Clin. Endocrinol. Metab.", "date": "2006", "authors": "Zhou Wei, Liu Zhilin, Wu Jianbo, Liu Jing-Hua, Hyder Salman M, Antoniou Eric, Lubahn Dennis B", "evidence": [ { "database": "UniProtKB", "id": "O95718", "url": "https://www.uniprot.org/uniprot/O95718" } ], "reference": [ { "type": "PubMed", "id": "16332939", "url": "https://glygen.org/publication/PubMed/16332939" } ] }, { "title": "Sensors and signals: a coactivator/corepressor/epigenetic code for integrating signal-dependent programs of transcriptional response.", "journal": "Genes & development", "date": "2006", "authors": "Rosenfeld MG, Lunyak VV, Glass CK", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "16751179", "url": "https://glygen.org/publication/PubMed/16751179" } ] }, { "title": "ERRbeta: a potent inhibitor of Nrf2 transcriptional activity.", "journal": "Molecular and cellular endocrinology", "date": "2007-11-15", "authors": "Zhou Wei, Lo Shih-Ching, Liu Jing-Hua, Hannink Mark, Lubahn Dennis B", "evidence": [ { "database": "UniProtKB", "id": "O95718", "url": "https://www.uniprot.org/uniprot/O95718" } ], "reference": [ { "type": "PubMed", "id": "17920186", "url": "https://glygen.org/publication/PubMed/17920186" } ] }, { "title": "Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.", "journal": "American journal of human genetics", "date": "2008", "authors": "Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Ansar M, Arslan S, Wollnik B, Brunner HG, Cremers CW, Karaguzel A, Ahmad W, Cremers FP, Vriend G, Friedman TB, Riazuddin S, Leal SM, Kremer H", "evidence": [ { "database": "UniProtKB", "id": "O95718", "url": "https://www.uniprot.org/uniprot/O95718" } ], "reference": [ { "type": "PubMed", "id": "18179891", "url": "https://glygen.org/publication/PubMed/18179891" } ] }, { "title": "Estrogen receptor related beta is expressed in human endometrium throughout the normal menstrual cycle.", "journal": "Hum. Reprod.", "date": "2008", "authors": "Bombail Vincent, MacPherson Sheila, Critchley Hilary O D, Saunders Philippa T K", "evidence": [ { "database": "UniProtKB", "id": "O95718", "url": "https://www.uniprot.org/uniprot/O95718" } ], "reference": [ { "type": "PubMed", "id": "18775884", "url": "https://glygen.org/publication/PubMed/18775884" } ] }, { "title": "Modulation of ER alpha transcriptional activity by the orphan nuclear receptor ERR beta and evidence for differential effects of long- and short-form splice variants.", "journal": "Molecular and cellular endocrinology", "date": "2010-01-15", "authors": "Bombail Vincent, Collins Frances, Brown Pamela, Saunders Philippa T K", "evidence": [ { "database": "UniProtKB", "id": "O95718", "url": "https://www.uniprot.org/uniprot/O95718" } ], "reference": [ { "type": "PubMed", "id": "19755138", "url": "https://glygen.org/publication/PubMed/19755138" } ] }, { "title": "An acetylation switch modulates the transcriptional activity of estrogen-related receptor alpha.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2010", "authors": "Wilson BJ, Tremblay AM, Deblois G, Sylvain-Drolet G, Giguere V", "evidence": [ { "database": "UniProtKB", "id": "O95718", "url": "https://www.uniprot.org/uniprot/O95718" } ], "reference": [ { "type": "PubMed", "id": "20484414", "url": "https://glygen.org/publication/PubMed/20484414" } ] }, { "title": "Peroxisome proliferator-activated receptor gamma coactivator 1 (PGC-1)- and estrogen-related receptor (ERR)-induced regulator in muscle 1 (Perm1) is a tissue-specific regulator of oxidative capacity in skeletal muscle cells.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Cho Y, Hazen BC, Russell AP, Kralli A", "evidence": [ { "database": "UniProtKB", "id": "O95718", "url": "https://www.uniprot.org/uniprot/O95718" } ], "reference": [ { "type": "PubMed", "id": "23836911", "url": "https://glygen.org/publication/PubMed/23836911" } ] }, { "title": "Antimitotic activity of DY131 and the estrogen-related receptor beta 2 (ERR\u03b22) splice variant in breast cancer.", "journal": "Oncotarget", "date": "2016-07-26", "authors": "Heckler Mary M, Zeleke Tizita Zewde, Divekar Shailaja D, Fernandez Aileen I, Tiek Deanna M, Woodrick Jordan, Farzanegan Alexander, Roy Rabindra, \u00dcren Aykut, Mueller Susette C, Riggins Rebecca B", "evidence": [ { "database": "iPTMnet", "id": "O95718", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95718" } ], "reference": [ { "type": "PubMed", "id": "27363015", "url": "https://glygen.org/publication/PubMed/27363015" } ] }, { "title": "Estrogen-related receptors: novel potential regulators of osteoarthritis pathogenesis.", "journal": "Molecular medicine (Cambridge, Mass.)", "date": "2021", "authors": "Tang J, Liu T, Wen X, Zhou Z, Yan J, Gao J, Zuo J", "evidence": [ { "database": "RefSeq", "id": "NP_004443", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004443" } ], "reference": [ { "type": "PubMed", "id": "33446092", "url": "https://glygen.org/publication/PubMed/33446092" } ] }, { "title": "Expression of estrogen-related receptors in ovarian cancer and impact on survival.", "journal": "Journal of cancer research and clinical oncology", "date": "2021", "authors": "Schuler-Toprak S, Weber F, Skrzypczak M, Ortmann O, Treeck O", "evidence": [ { "database": "RefSeq", "id": "NP_004443", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004443" } ], "reference": [ { "type": "PubMed", "id": "34089362", "url": "https://glygen.org/publication/PubMed/34089362" } ] }, { "title": "A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case.", "journal": "BMC medical genomics", "date": "2022", "authors": "Ghasemnejad T, Shekari Khaniani M, Nouri Nojadeh J, Mansoori Derakhshan S", "evidence": [ { "database": "RefSeq", "id": "NP_004443", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004443" } ], "reference": [ { "type": "PubMed", "id": "35101039", "url": "https://glygen.org/publication/PubMed/35101039" } ] }, { "title": "Long Noncoding RNA ACTA2-AS1 Inhibits Cell Growth and Facilitates Apoptosis in Gastric Cancer by Binding with miR-6720-5p to Regulate ESRRB.", "journal": "Biochemical genetics", "date": "2023-12", "authors": "Hu Zuchao, Chen Zhen, Jiang Wei, Fang Dazheng, Peng Ping, Yao Shouguo, Luo Ming, Wang Lei, Sun Zhengfu, Wang Wei, Wang Xin, Mao Haibo, Ai Fen, Zhou Peihua", "evidence": [ { "database": "RefSeq", "id": "NP_004443", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004443" } ], "reference": [ { "type": "PubMed", "id": "37222961", "url": "https://glygen.org/publication/PubMed/37222961" } ] }, { "title": "ESRRB Inhibits the TGF\u03b2 Signaling Pathway to Drive Cell Proliferation in Cervical Cancer.", "journal": "Cancer research", "date": "2023-09-15", "authors": "Li Qin-Shu, Zheng Peng-Sheng", "evidence": [ { "database": "RefSeq", "id": "NP_004443", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004443" } ], "reference": [ { "type": "PubMed", "id": "37350664", "url": "https://glygen.org/publication/PubMed/37350664" } ] }, { "title": "The TRAP220 component of a thyroid hormone receptor- associated protein (TRAP) coactivator complex interacts directly with nuclear receptors in a ligand-dependent fashion.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Yuan CX, Ito M, Fondell JD, Fu ZY, Roeder RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-383280", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280" } ], "reference": [ { "type": "PubMed", "id": "9653119", "url": "https://glygen.org/publication/PubMed/9653119" } ] } ], "pathway": [ { "id": "hsa:2103", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2103", "resource": "KEGG Pathway" }, { "id": "R-HSA-383280", "name": "Nuclear Receptor transcription pathway", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-383280", "resource": "Reactome", "description": "Nuclear Receptor transcription pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "P11475-1", "protein_name": "Steroid hormone receptor ERR2", "gene_name": "Esrrb", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSSEDRHLGSSCGSFIKTEPSSPSSGIDALSHHSPSGSSDASGGFGMALGTHANGLDSPPMFAGAGLGGNPCRKSYEDCTSGIMEDSAIKCEYMLNAIPKRLCLVCGDIASGYHYGVASCEACKAFFKRTIQGNIEYSCPATNECEITKRRRKSCQACRFMKCLKVGMLKEGVRLDRVRGGRQKYKRRLDSENSPYLSLQISPPAKKPLTKIVSYLLVAEPDKLYAMPPDDVPEGDIKALTTLCDLADRELVFLISWAKHIPGFSNLTLGDQMSLLQSAWMEILILGIVYRSLPYDDKLAYAEDYIMDEEHSRLVGLLELYRAILQLVRRYKKLKVEKEEFVMLKALALANSDSMYIENLEAVQKLQDLLHEALQDYELSQRHEEPRRAGKLLLTLPLLRQTAAKAVQHFYSVKLQGKVPMHKLFLEMLEAKV", "length": 433 }, "evidence": [ { "id": "45918716", "url": "http://www.informatics.jax.org/homology/45918716", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q61539-1", "protein_name": "Steroid 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