{ "uniprot_canonical_ac": "P28702-1", "uniprot_ac": "P28702", "uniprot_id": "RXRB_HUMAN", "mass": { "chemical_mass": 56922.0, "monoisotopic_mass": 56922.0 }, "refseq": { "ac": "NP_001257330", "name": "retinoic acid receptor RXR-beta isoform 1", "summary": "This gene encodes a member of the retinoid X receptor (RXR) family of nuclear receptors which are involved in mediating the effects of retinoic acid (RA). The encoded protein forms homodimers with the retinoic acid, thyroid hormone, and vitamin D receptors, increasing both DNA binding and transcriptional function on their respective response elements. This gene lies within the major histocompatibility complex (MHC) class II region on chromosome 6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257330" }, "gene_names": [ { "name": "RXRB", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P28702", "id": "P28702" }, { "name": "DAUDI6; H-2RIIBP; NR2B2; RCoR-1; RXR-beta; RXRbeta", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278918", "id": "NP_001278918" }, { "name": "NR2B2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P28702", "id": "P28702" }, { "name": "RXRB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278918", "id": "NP_001278918" } ], "protein_names": [ { "name": "Retinoic acid receptor RXR-beta", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P28702" }, { "name": "MHC class I promoter binding protein; retinoic acid receptor RXR-beta; nuclear receptor subfamily 2 group B member 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257330", "id": "NP_001257330" }, { "name": "Nuclear receptor subfamily 2 group B member 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P28702" }, { "name": "Retinoid X receptor beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P28702" }, { "name": "retinoic acid receptor RXR-beta isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257330", "id": "NP_001257330" }, { "name": "retinoic acid receptor RXR-beta isoform 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278918", "id": "NP_001278918" } ], "function": [ { "annotation": "Genetic variant of RXR involved in the vitamin D metabolic pathway was linked to HCV infection outcomes among a high-risk Chinese population.", "evidence": [ { "database": "RefSeq", "id": "NP_001257330", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257330" }, { "database": "PubMed", "id": "33246082", "url": "https://glygen.org/publication/PubMed/33246082" }, { "database": "RefSeq", "id": "NP_001278918", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278918" } ] }, { "annotation": "Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RAR/RXR heterodimers bind to the retinoic acid response elements (RARE).", "evidence": [ { "database": "UniProtKB", "id": "P28702", "url": "https://www.uniprot.org/uniprot/P28702#function" }, { "database": "PubMed", "id": "1310259", "url": "https://glygen.org/publication/PubMed/1310259" } ] }, { "annotation": "This gene encodes a member of the retinoid X receptor (RXR) family of nuclear receptors which are involved in mediating the effects of retinoic acid (RA). The encoded protein forms homodimers with the retinoic acid, thyroid hormone, and vitamin D receptors, increasing both DNA binding and transcriptional function on their respective response elements. This gene lies within the major histocompatibility complex (MHC) class II region on chromosome 6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_001257330", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257330" }, { "database": "RefSeq", "id": "NP_001278918", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278918" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "86.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204231" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "85.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204231" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "88.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204231" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "78.93", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000204231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204231" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "94.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204231" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "94.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204231" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "81.97", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000204231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204231" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "90.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204231" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "95.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204231" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "83.38", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000204231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204231" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "86.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204231" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "95.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204231" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "94.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000204231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000204231" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P28702", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P28702" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", 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"https://www.uniprot.org/uniprot/P28702-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSWAARPPFLPQRHAAGQCGPVGVRKEMHCGVASRWRRRRPWLDPAAAAAAAVAGGEQQTPEPEPGEAGRDGMGDSGRDSRSPDSSSPNPLPQGVPPPSPPGPPLPPSTAPSLGGSGAPPPPPMPPPPLGSPFPVISSSMGSPGLPPPAPPGFSGPVSSPQINSTVSLPGGGSGPPEDVKPPVLGVRGLHCPPPPGGPGAGKRLCAICGDRSSGKHYGVYSCEGCKGFFKRTIRKDLTYSCRDNKDCTVDKRQRNRCQYCRYQKCLATGMKREAVQEERQRGKDKDGDGEGAGGAPEEMPVDRILEAELAVEQKSDQGVEGPGGTGGSGSSPNDPVTNICQAADKQLFTLVEWAKRIPHFSSLPLDDQVILLRAGWNELLIASFSHRSIDVRDGILLATGLHVHRNSAHSAGVGAIFDRVLTELVSKMRDMRMDKTELGCLRAIILFNPDAKGLSNPSEVEVLREKVYASLETYCKQKYPEQQGRFAKLLLRLPALRSIGLKCLEHLFFFKLIGDTPIDTFLMEMLEAPHQLA", "length": 533, "header": "sp|P28702-1|RXRB_HUMAN Isoform 1 of Retinoic acid receptor RXR-beta OS=Homo sapiens OX=9606 GN=RXRB PE=1 SV=2 CANONICAL=P28702-1" }, "isoforms": [ { "isoform_ac": "A0A0G2JHI1-1", "url": "", "sequence": { "sequence": "XSPNDPVTNICQAADKQLFTLVEWAKRIPHFSSLPLDDQVILLRAGLHVHRNSAHSAGVGAIFDRVLTELVSKMRDMRMDKTELGCLRAIILFNPD", "length": 96, "header": "tr|A0A0G2JHI1-1|RXRB_HUMAN Computationally mapped isoform of Retinoic acid receptor RXR-beta OS=Homo sapiens OX=9606 GN=RXRB PE=1 SV=1 CANONICAL=P28702-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_MANN_CTG1", "start_pos": 33350318, "end_pos": 33349243, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000428813.1", "url": "https://www.ensembl.org/id/ENST00000428813.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000410433.1", "url": "https://www.ensembl.org/id/ENSP00000410433.1" } ] } }, { "isoform_ac": "A0A0G2JKR7-1", "url": "", "sequence": { "sequence": "MRECGGGPGAGKRLCAICGDRSSGKHYGVYSCEGCKGFFKRTIRKDLTYSCRDNKDCTVDKRQRNRCQYCRYQKCLATGMKREAVQEERQRGKDKDGDGEGAGGAPEEMPVDRILEAELAVEQKSDQGVEGPGGTGGSGSSPNDPVTNICQAADKQLFTLVEWAKRIPHFSSLPLDDQVILLRAGWNELLIASFSHRSIDVRDGILLATGLHVHRNSAHSAGVGAIFDRSLSRVLTELVSKMRDMRMDKTELGCLRAIILFNPDAKGLSNPSEVEVLREKVYASLETYCKQKYPEQQGRFAKLLLRLPALRSIGLKCLEHLFFFKLIGDTPIDTFLMEMLEAPHQLA", "length": 347, "header": "tr|A0A0G2JKR7-1|A0A0G2JKR7_HUMAN Computationally mapped isoform of Retinoic acid receptor RXR-beta OS=Homo sapiens OX=9606 GN=RXRB PE=1 SV=1 CANONICAL=P28702-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_COX_CTG1", "start_pos": 33122406, "end_pos": 33116311, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000531100.5", "url": "https://www.ensembl.org/id/ENST00000531100.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000435434.1", "url": "https://www.ensembl.org/id/ENSP00000435434.1" } ] } }, { "isoform_ac": "E9PK75-1", "url": "", "sequence": { "sequence": "MSWAARPPFLPQRHAAGQCGPVGVRKEMHCGVASRWRRRRPWLDPAAAAAAAVAGGEQQTPEPEPGEAGRDGMGDSGRD", "length": 79, "header": "tr|E9PK75-1|RXRB_HUMAN Computationally mapped isoform of Retinoic acid receptor RXR-beta OS=Homo sapiens OX=9606 GN=RXRB PE=1 SV=1 CANONICAL=P28702-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_DBB_CTG1", "start_pos": 33178382, "end_pos": 33176369, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000462174.5", "url": "https://www.ensembl.org/id/ENST00000462174.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000432690.1", "url": "https://www.ensembl.org/id/ENSP00000432690.1" } ] } }, { "isoform_ac": "P28702-1", "url": "", "sequence": { "sequence": "MSWAARPPFLPQRHAAGQCGPVGVRKEMHCGVASRWRRRRPWLDPAAAAAAAVAGGEQQTPEPEPGEAGRDGMGDSGRDSRSPDSSSPNPLPQGVPPPSPPGPPLPPSTAPSLGGSGAPPPPPMPPPPLGSPFPVISSSMGSPGLPPPAPPGFSGPVSSPQINSTVSLPGGGSGPPEDVKPPVLGVRGLHCPPPPGGPGAGKRLCAICGDRSSGKHYGVYSCEGCKGFFKRTIRKDLTYSCRDNKDCTVDKRQRNRCQYCRYQKCLATGMKREAVQEERQRGKDKDGDGEGAGGAPEEMPVDRILEAELAVEQKSDQGVEGPGGTGGSGSSPNDPVTNICQAADKQLFTLVEWAKRIPHFSSLPLDDQVILLRAGWNELLIASFSHRSIDVRDGILLATGLHVHRNSAHSAGVGAIFDRVLTELVSKMRDMRMDKTELGCLRAIILFNPDAKGLSNPSEVEVLREKVYASLETYCKQKYPEQQGRFAKLLLRLPALRSIGLKCLEHLFFFKLIGDTPIDTFLMEMLEAPHQLA", "length": 533, "header": "sp|P28702-1|RXRB_HUMAN Isoform 1 of Retinoic acid receptor RXR-beta OS=Homo sapiens OX=9606 GN=RXRB PE=1 SV=2 CANONICAL=P28702-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_QBL_CTG1", "start_pos": 33129287, "end_pos": 33123496, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000383217.8", "url": "https://www.ensembl.org/id/ENST00000383217.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000372704.4", "url": "https://www.ensembl.org/id/ENSP00000372704.4" } ] } }, { "isoform_ac": "P28702-3", "url": "", "sequence": { "sequence": "MSWAARPPFLPQRHAAGQCGPVGVRKEMHCGVASRWRRRRPWLDPAAAAAAAVAGGEQQTPEPEPGEAGRDGMGDSGRDSRSPDSSSPNPLPQGVPPPSPPGPPLPPSTAPSLGGSGAPPPPPMPPPPLGSPFPVISSSMGSPGLPPPAPPGFSGPVSSPQINSTVSLPGGGSGPPEDVKPPVLGVRGLHCPPPPGGPGAGKRLCAICGDRSSGKHYGVYSCEGCKGFFKRTIRKDLTYSCRDNKDCTVDKRQRNRCQYCRYQKCLATGMKREAVQEERQRGKDKDGDGEGAGGAPEEMPVDRILEAELAVEQKSDQGVEGPGGTGGSGSSPNDPVTNICQAADKQLFTLVEWAKRIPHFSSLPLDDQVILLRAGWNELLIASFSHRSIDVRDGILLATGLHVHRNSAHSAGVGAIFDRSLSRVLTELVSKMRDMRMDKTELGCLRAIILFNPDAKGLSNPSEVEVLREKVYASLETYCKQKYPEQQGRFAKLLLRLPALRSIGLKCLEHLFFFKLIGDTPIDTFLMEMLEAPHQLA", "length": 537, "header": "sp|P28702-3|RXRB_HUMAN Isoform 3 of Retinoic acid receptor RXR-beta OS=Homo sapiens OX=9606 GN=RXRB PE=1 SV=2 CANONICAL=P28702-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_DBB_CTG1", "start_pos": 33178382, "end_pos": 33172591, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000455462.6", "url": "https://www.ensembl.org/id/ENST00000455462.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000400104.2", "url": "https://www.ensembl.org/id/ENSP00000400104.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P28702", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P28702" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "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": "Expression, purification, and crystal structure determination of recombinant human epidermal-type fatty acid binding protein.", "journal": "Biochemistry", "date": "1999", "authors": "Hohoff C, Borchers T, Rustow B, Spener F, van Tilbeurgh H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5362517", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5362517" } ], "reference": [ { "type": "PubMed", "id": "10493790", "url": "https://glygen.org/publication/PubMed/10493790" } ] }, { "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": "The murine and human cholesterol 7alpha-hydroxylase gene promoters are differentially responsive to regulation by fatty acids mediated via peroxisome proliferator-activated receptor alpha.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Cheema SK, Agellon LB", "evidence": [ { "database": "Reactome", "id": "R-HSA-1989781", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781" } ], "reference": [ { "type": "PubMed", "id": "10777541", "url": "https://glygen.org/publication/PubMed/10777541" } ] }, { "title": "Sterol-dependent transactivation of the ABC1 promoter by the liver X receptor/retinoid X receptor.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Costet P, Luo Y, Wang N, Tall AR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9029569", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9029569" } ], "reference": [ { "type": "PubMed", "id": "10858438", "url": "https://glygen.org/publication/PubMed/10858438" } ] }, { "title": "LXRs control lipid-inducible expression of the apolipoprotein E gene in macrophages and adipocytes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Laffitte BA, Repa JJ, Joseph SB, Wilpitz DC, Kast HR, Mangelsdorf DJ, Tontonoz P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9029569", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9029569" } ], "reference": [ { "type": "PubMed", "id": "11149950", "url": "https://glygen.org/publication/PubMed/11149950" } ] }, { "title": "Alternative splicing and tissue-specific transcription of human and rodent ubiquitous 5-aminolevulinate synthase (ALAS1) genes.", "journal": "Biochimica et biophysica acta", "date": "2001", "authors": "Roberts AG, Elder GH", "evidence": [ { "database": "Reactome", "id": "R-HSA-1989781", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781" } ], "reference": [ { "type": "PubMed", "id": "11267664", "url": "https://glygen.org/publication/PubMed/11267664" } ] }, { "title": "Identification of liver X receptor-retinoid X receptor as an activator of the sterol regulatory element-binding protein 1c gene promoter.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Yoshikawa T, Shimano H, Amemiya-Kudo M, Yahagi N, Hasty AH, Matsuzaka T, Okazaki H, Tamura Y, Iizuka Y, Ohashi K, Osuga J, Harada K, Gotoda T, Kimura S, Ishibashi S, Yamada N", "evidence": [ { "database": "Reactome", "id": "R-HSA-9029558", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9029558" } ], "reference": [ { "type": "PubMed", "id": "11287605", "url": "https://glygen.org/publication/PubMed/11287605" } ] }, { "title": "Cloning and characterization of the human stearoyl-CoA desaturase gene promoter: transcriptional activation by sterol regulatory element binding protein and repression by polyunsaturated fatty acids and cholesterol.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Bene H, Lasky D, Ntambi JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9029558", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9029558" } ], "reference": [ { "type": "PubMed", "id": "11414710", "url": "https://glygen.org/publication/PubMed/11414710" } ] }, { "title": "Characterization of the human ABCG1 gene: liver X receptor activates an internal promoter that produces a novel transcript encoding an alternative form of the protein.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Kennedy MA, Venkateswaran A, Tarr PT, Xenarios I, Kudoh J, Shimizu N, Edwards PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9029569", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9029569" } ], "reference": [ { "type": "PubMed", "id": "11500512", "url": "https://glygen.org/publication/PubMed/11500512" } ] }, { "title": "Autoregulation of the human liver X receptor alpha promoter.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Laffitte BA, Joseph SB, Walczak R, Pei L, Wilpitz DC, Collins JL, Tontonoz P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9029569", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9029569" } ], "reference": [ { "type": "PubMed", "id": "11604492", "url": "https://glygen.org/publication/PubMed/11604492" } ] }, { "title": "The structural basis for the specificity of retinoid-X receptor-selective agonists: new insights into the role of helix H12.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Li C., Evans R.M., Schwabe J.W., Chatterjee V.K., Nagy L., Gooch J.T., Benko S., Love J.D.", "evidence": [ { "database": "UniProtKB", "id": "P28702", "url": "https://www.uniprot.org/uniprot/P28702" } ], "reference": [ { "type": "PubMed", "id": "11782480", "url": "https://glygen.org/publication/PubMed/11782480" } ] }, { "title": "Direct and indirect mechanisms for regulation of fatty acid synthase gene expression by liver X receptors.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Joseph SB, Laffitte BA, Patel PH, Watson MA, Matsukuma KE, Walczak R, Collins JL, Osborne TF, Tontonoz P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9029558", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9029558" } ], "reference": [ { "type": "PubMed", "id": "11790787", "url": "https://glygen.org/publication/PubMed/11790787" } ] }, { "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": "Induction of human liver X receptor alpha gene expression via an autoregulatory loop mechanism.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2002", "authors": "Li Y, Bolten C, Bhat BG, Woodring-Dietz J, Li S, Prayaga SK, Xia C, Lala DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9029569", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9029569" } ], "reference": [ { "type": "PubMed", "id": "11875109", "url": "https://glygen.org/publication/PubMed/11875109" } ] }, { "title": "Direct channeling of retinoic acid between cellular retinoic acid-binding protein II and retinoic acid receptor sensitizes mammary carcinoma cells to retinoic acid-induced growth arrest.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Budhu AS, Noy N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5362517", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5362517" } ], "reference": [ { "type": "PubMed", "id": "11909957", "url": "https://glygen.org/publication/PubMed/11909957" } ] }, { "title": "Regulated expression of the apolipoprotein E/C-I/C-IV/C-II gene cluster in murine and human macrophages. A critical role for nuclear liver X receptors alpha and beta.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Mak PA, Laffitte BA, Desrumaux C, Joseph SB, Curtiss LK, Mangelsdorf DJ, Tontonoz P, Edwards PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9029569", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9029569" } ], "reference": [ { "type": "PubMed", "id": "12032151", "url": "https://glygen.org/publication/PubMed/12032151" } ] }, { "title": "Peroxisome proliferator-activated receptor alpha (PPARalpha ) turnover by the ubiquitin-proteasome system controls the ligand-induced expression level of its target genes.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Blanquart C, Barbier O, Fruchart JC, Staels B, Glineur C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1989781", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781" } ], "reference": [ { "type": "PubMed", "id": "12118000", "url": "https://glygen.org/publication/PubMed/12118000" } ] }, { "title": "Comparative genome analysis of potential regulatory elements in the ABCG5-ABCG8 gene cluster.", "journal": "Biochemical and biophysical research communications", "date": "2002", "authors": "Remaley AT, Bark S, Walts AD, Freeman L, Shulenin S, Annilo T, Elgin E, Rhodes HE, Joyce C, Dean M, Santamarina-Fojo S, Brewer HB Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-9029569", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9029569" } ], "reference": [ { "type": "PubMed", "id": "12150943", "url": "https://glygen.org/publication/PubMed/12150943" } ] }, { "title": "Transcriptional activities of nuclear SREBP-1a, -1c, and -2 to different target promoters of lipogenic and cholesterogenic genes.", "journal": "Journal of lipid research", "date": "2002", "authors": "Amemiya-Kudo M, Shimano H, Hasty AH, Yahagi N, Yoshikawa T, Matsuzaka T, Okazaki H, Tamura Y, Iizuka Y, Ohashi K, Osuga J, Harada K, Gotoda T, Sato R, Kimura S, Ishibashi S, Yamada N", "evidence": [ { "database": "Reactome", "id": "R-HSA-1989781", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781" } ], "reference": [ { "type": "PubMed", "id": "12177166", "url": "https://glygen.org/publication/PubMed/12177166" } ] }, { "title": "Identification of PLTP as an LXR target gene and apoE as an FXR target gene reveals overlapping targets for the two nuclear receptors.", "journal": "Journal of lipid research", "date": "2002", "authors": "Mak PA, Kast-Woelbern HR, Anisfeld AM, Edwards PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9029569", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9029569" } ], "reference": [ { "type": "PubMed", "id": "12454263", "url": "https://glygen.org/publication/PubMed/12454263" } ] }, { "title": "Regulation of P450 4A expression by peroxisome proliferator activated receptors.", "journal": "Toxicology", "date": "2002", "authors": "Johnson EF, Hsu MH, Savas U, Griffin KJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1989781", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781" } ], "reference": [ { "type": "PubMed", "id": "12505311", "url": "https://glygen.org/publication/PubMed/12505311" } ] }, { "title": "Regulation of the angiopoietin-like protein 3 gene by LXR.", "journal": "Journal of lipid research", "date": "2003", "authors": "Kaplan R, Zhang T, Hernandez M, Gan FX, Wright SD, Waters MG, Cai TQ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9029558", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9029558" } ], "reference": [ { "type": "PubMed", "id": "12518032", "url": "https://glygen.org/publication/PubMed/12518032" } ] }, { "title": "The UDP-glucuronosyltransferase 1A9 enzyme is a peroxisome proliferator-activated receptor alpha and gamma target gene.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Barbier O, Villeneuve L, Bocher V, Fontaine C, Torra IP, Duhem C, Kosykh V, 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