{ "uniprot_canonical_ac": "O95816-1", "uniprot_ac": "O95816", "uniprot_id": "BAG2_HUMAN", "mass": { "chemical_mass": 23772.0, "monoisotopic_mass": 23772.0 }, "refseq": { "ac": "NP_004273", "name": "BAG family molecular chaperone regulator 2", "summary": "BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The predicted BAG2 protein contains 211 amino acids. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004273" }, "gene_names": [ { "name": "BAG2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95816", "id": "O95816" }, { "name": "BAG-2; dJ417I1.2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004273", "id": "NP_004273" }, { "name": "BAG2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004273", "id": "NP_004273" } ], "protein_names": [ { "name": "BAG family molecular chaperone regulator 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95816" }, { "name": "BAG family molecular chaperone regulator 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004273", "id": "NP_004273" }, { "name": "BAG-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95816" }, { "name": "Bcl-2-associated athanogene 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95816" }, { "name": "dJ417I1.2 (BAG-family molecular chaperone regulator 2); bcl-2-associated athanogene 2; BCL2 associated athanogene 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004273", "id": "NP_004273" } ], "function": [ { "annotation": "BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The predicted BAG2 protein contains 211 amino acids. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_004273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004273" } ] }, { "annotation": "BAG2 binds to the carboxyl terminus of Hsp70-interacting protein (CHIP) and provides a cochaperone-dependent regulatory mechanism for preventing unregulated ubiquitylation of misfolded proteins by CHIP", "evidence": [ { "database": "RefSeq", "id": "NP_004273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004273" }, { "database": "PubMed", "id": "16169850", "url": "https://glygen.org/publication/PubMed/16169850" } ] }, { "annotation": "BAG2 drives chemoresistance of breast cancer by exacerbating mutant p53 aggregate. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004273" }, { "database": "PubMed", "id": "36593950", "url": "https://glygen.org/publication/PubMed/36593950" } ] }, { "annotation": "BAG2 prevents Tau hyperphosphorylation and increases p62/SQSTM1 in cell models of neurodegeneration.", "evidence": [ { "database": "RefSeq", "id": "NP_004273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004273" }, { "database": "PubMed", "id": "35612780", "url": "https://glygen.org/publication/PubMed/35612780" } ] }, { "annotation": "BAG2 was directly phosphorylated at serine 20 in vitro by MAPKAPK2 and MAPKAP2 is also required for phosphorylation of BAG2 in vivo.", "evidence": [ { "database": "RefSeq", "id": "NP_004273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004273" }, { "database": "PubMed", "id": "15271996", "url": "https://glygen.org/publication/PubMed/15271996" } ] }, { "annotation": "C-MYC-USP49-BAG2 axis promotes proliferation and chemoresistance of colorectal cancer cells in vitro.", "evidence": [ { "database": "RefSeq", "id": "NP_004273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004273" }, { "database": "PubMed", "id": "35367823", "url": "https://glygen.org/publication/PubMed/35367823" } ] }, { "annotation": "Co-chaperone for HSP70 and HSC70 chaperone proteins. Acts as a nucleotide-exchange factor (NEF) promoting the release of ADP from the HSP70 and HSC70 proteins thereby triggering client/substrate protein release (PubMed:24318877, PubMed:9873016).", "evidence": [ { "database": "UniProtKB", "id": "O95816", "url": "https://www.uniprot.org/uniprot/O95816#function" }, { "database": "PubMed", "id": "9873016", "url": "https://glygen.org/publication/PubMed/9873016" }, { "database": "PubMed", "id": "24318877", "url": "https://glygen.org/publication/PubMed/24318877" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O95816", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95816" }, { "id": "rs1197878317", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1197878317" }, { "id": "rs1197878317", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1197878317" }, { "id": "rs1197878317", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1197878317" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 23, "end_pos": 23, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DRS->NRS).", "chr_id": "6", "chr_pos": "57172764", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D23", "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": 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"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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "67.79", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112208", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112208" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "54.81", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000112208", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112208" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "76.34", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112208", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112208" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "92.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112208", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112208" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "84.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112208", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112208" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "78.24", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112208", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112208" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "71.08", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000112208", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000112208" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "88.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000112208", "url": 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": 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hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95816", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95816" } ], "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", 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"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": "" }, 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"id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95816", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95816" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O95816", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95816" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O95816", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95816" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"https://oglcnac.org/atlas/detail/O95816" } ] } ], "phosphorylation": [ { "start_pos": 133, "end_pos": 133, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95816", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95816" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser133" }, { "start_pos": 137, "end_pos": 137, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95816", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95816" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser137" }, { "start_pos": 139, "end_pos": 139, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95816", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95816" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Tyr139" }, { "start_pos": 140, "end_pos": 140, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95816", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95816" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser140" }, { "start_pos": 143, "end_pos": 143, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95816", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95816" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser143" }, { "start_pos": 144, "end_pos": 144, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95816", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95816" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser144" }, { "start_pos": 20, "end_pos": 20, "kinase_uniprot_canonical_ac": "P49137-1", "kinase_gene_name": "MAPKAPK2", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95816", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95816" }, { "database": "PubMed", "id": "15271996", "url": "https://glygen.org/publication/PubMed/15271996" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O95816", "url": "http://phospho.elm.eu.org/byAccession/O95816.html" } ], "site_lbl": "Ser20" }, { "start_pos": 20, "end_pos": 20, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95816", "url": "https://www.uniprot.org/uniprot/O95816" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "O95816", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95816" }, { "database": "PubMed", "id": "15271996", "url": "https://glygen.org/publication/PubMed/15271996" } ], "site_lbl": "Ser20" }, { "start_pos": 31, "end_pos": 31, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95816", "url": "https://www.uniprot.org/uniprot/O95816" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95816", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95816" } ], "site_lbl": "Ser31" }, { "start_pos": 73, "end_pos": 73, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95816", "url": "https://www.uniprot.org/uniprot/O95816" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95816", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95816" } ], "site_lbl": "Ser73" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Identification of Mrj, a DnaJ/Hsp40 family protein, as a keratin 8/18 filament regulatory protein.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Izawa I, Nishizawa M, Ohtakara K, Ohtsuka K, Inada H, Inagaki M", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "10954706", "url": "https://glygen.org/publication/PubMed/10954706" } ] }, { "title": "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.", "journal": "Genome Res.", "date": "2001", "authors": "Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A", "evidence": [ { "database": "UniProtKB", "id": "O95816", "url": "https://www.uniprot.org/uniprot/O95816" } ], "reference": [ { "type": "PubMed", "id": "11230166", "url": "https://glygen.org/publication/PubMed/11230166" } ] }, { "title": "Chemistry of gene silencing: the mechanism of NAD+-dependent deacetylation reactions.", "journal": "Biochemistry", "date": "2001", "authors": "Sauve AA, Celic I, Avalos J, Deng H, Boeke JD, Schramm VL", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "11747420", "url": "https://glygen.org/publication/PubMed/11747420" } ] }, { "title": "Cofactor Tpr2 combines two TPR domains and a J domain to regulate the Hsp70/Hsp90 chaperone system.", "journal": "The EMBO journal", "date": "2003", "authors": "Brychzy A, Rein T, Winklhofer KF, Hartl FU, Young JC, Obermann WM", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "12853476", "url": "https://glygen.org/publication/PubMed/12853476" } ] }, { "title": "Regulation of molecular chaperone gene transcription involves the serine phosphorylation, 14-3-3 epsilon binding, and cytoplasmic sequestration of heat shock factor 1.", "journal": "Molecular and cellular biology", "date": "2003", "authors": "Wang X, Grammatikakis N, Siganou A, Calderwood SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "12917326", "url": "https://glygen.org/publication/PubMed/12917326" } ] }, { "title": "Characterization of two isoforms of a human DnaJ homologue, HSJ2.", "journal": "Molecular biology reports", "date": "2003", "authors": "Hanai R, Mashima K", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "12974469", "url": "https://glygen.org/publication/PubMed/12974469" } ] }, { "title": "Proteomic identification of Bcl2-associated athanogene 2 as a novel MAPK-activated protein kinase 2 substrate.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Ueda K, Kosako H, Fukui Y, Hattori S", "evidence": [ { "database": "RefSeq", "id": "NP_004273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004273" }, { "database": "iPTMnet", "id": "O95816-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95816-1" } ], "reference": [ { "type": "PubMed", "id": "15271996", "url": "https://glygen.org/publication/PubMed/15271996" } ] }, { "title": "Interactions between extracellular signal-regulated protein kinase 1, 14-3-3epsilon, and heat shock factor 1 during stress.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Wang X, Grammatikakis N, Siganou A, Stevenson MA, Calderwood SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "15364926", "url": "https://glygen.org/publication/PubMed/15364926" } ] }, { "title": "Human Mpp11 J protein: ribosome-tethered molecular chaperones are ubiquitous.", "journal": "Science (New York, N.Y.)", "date": "2005", "authors": "Hundley HA, Walter W, Bairstow S, Craig EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "15802566", "url": "https://glygen.org/publication/PubMed/15802566" } ] }, { "title": "Intracellular localization and partial amino acid sequence of a stress-inducible 40-kDa protein in HeLa cells.", "journal": "Cell structure and function", "date": "1992", "authors": "Hattori H, Liu YC, Tohnai I, Ueda M, Kaneda T, Kobayashi T, Tanabe K, Ohtsuka K", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": 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"evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "16278218", "url": "https://glygen.org/publication/PubMed/16278218" } ] }, { "title": "A human homologue of the Escherichia coli DnaJ heat-shock protein.", "journal": "Nucleic acids research", "date": "1991", "authors": "Raabe T, Manley JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "1754405", "url": "https://glygen.org/publication/PubMed/1754405" } ] }, { "title": "DBC1 is a negative regulator of SIRT1.", "journal": "Nature", "date": "2008", "authors": "Kim JE, Chen J, Lou Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "18235501", "url": "https://glygen.org/publication/PubMed/18235501" } ] }, { "title": "Negative regulation of the deacetylase SIRT1 by DBC1.", "journal": "Nature", "date": "2008", "authors": "Zhao W, Kruse JP, Tang Y, Jung SY, Qin J, Gu W", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "18235502", "url": "https://glygen.org/publication/PubMed/18235502" } ] }, { "title": "Structure of the Hsp110:Hsc70 nucleotide exchange machine.", "journal": "Molecular cell", "date": "2008", "authors": "Schuermann JP, Jiang J, Cuellar J, Llorca O, Wang L, Gimenez LE, Jin S, Taylor AB, Demeler B, Morano KA, Hart PJ, Valpuesta JM, Lafer EM, Sousa R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "18550409", "url": "https://glygen.org/publication/PubMed/18550409" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O95816", "url": "https://www.uniprot.org/uniprot/O95816" }, { "database": "iPTMnet", "id": "O95816-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95816-1" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Stress-inducible regulation of heat shock factor 1 by the deacetylase SIRT1.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Westerheide SD, Anckar J, Stevens SM Jr, Sistonen L, Morimoto RI", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "19229036", "url": "https://glygen.org/publication/PubMed/19229036" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O95816-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95816-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Substrate specificity of SIRT1-catalyzed lysine Nepsilon-deacetylation reaction probed with the side chain modified Nepsilon-acetyl-lysine analogs.", "journal": "Bioorganic chemistry", "date": "2010", "authors": "Jamonnak N, Hirsch BM, Pang Y, Zheng W", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "19914676", "url": "https://glygen.org/publication/PubMed/19914676" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O95816", "url": "https://www.uniprot.org/uniprot/O95816" }, { "database": "iPTMnet", "id": "O95816-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95816-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Regulation of SIRT1 activity by genotoxic stress.", "journal": "Genes & development", "date": "2012", "authors": "Yuan J, Luo K, Liu T, Lou Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "22465953", "url": "https://glygen.org/publication/PubMed/22465953" } ] }, { "title": "Hikeshi, a nuclear import carrier for Hsp70s, protects cells from heat shock-induced nuclear damage.", "journal": "Cell", "date": "2012", "authors": "Kose S, Furuta M, Imamoto N", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "22541429", "url": "https://glygen.org/publication/PubMed/22541429" } ] }, { "title": "DBC1 phosphorylation by ATM/ATR inhibits SIRT1 deacetylase in response to DNA damage.", "journal": "Journal of molecular cell biology", "date": "2012", "authors": "Zannini L, Buscemi G, Kim JE, Fontanella E, Delia D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "22735644", "url": "https://glygen.org/publication/PubMed/22735644" } ] }, { "title": "RPA assists HSF1 access to nucleosomal DNA by recruiting histone chaperone FACT.", "journal": "Molecular cell", "date": "2012", "authors": "Fujimoto M, Takaki E, Takii R, Tan K, Prakasam R, Hayashida N, Iemura S, Natsume T, Nakai A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "22940245", "url": "https://glygen.org/publication/PubMed/22940245" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O95816", "url": "https://www.uniprot.org/uniprot/O95816" }, { "database": "iPTMnet", "id": "O95816", "url": 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"R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "23349863", "url": "https://glygen.org/publication/PubMed/23349863" } ] }, { "title": "Binding of human nucleotide exchange factors to heat shock protein 70 (Hsp70) generates functionally distinct complexes in vitro.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Rauch JN, Gestwicki JE", "evidence": [ { "database": "UniProtKB", "id": "O95816", "url": "https://www.uniprot.org/uniprot/O95816" } ], "reference": [ { "type": "PubMed", "id": "24318877", "url": "https://glygen.org/publication/PubMed/24318877" } ] }, { "title": "The NLR-related protein NWD1 is associated with prostate cancer and modulates androgen receptor signaling.", "journal": "Oncotarget", "date": "2014", "authors": "Correa RG, Krajewska M, Ware CF, Gerlic M, Reed JC", "evidence": [ { "database": "UniProtKB", "id": "O95816", "url": "https://www.uniprot.org/uniprot/O95816" } ], "reference": [ { "type": "PubMed", "id": "24681825", "url": "https://glygen.org/publication/PubMed/24681825" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95816", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95816" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "A new tandem enrichment strategy for the simultaneous profiling of O-GlcNAcylation and phosphorylation in RNA-binding proteome.", "journal": "The Analyst", "date": "2021", "authors": "Fan Z, Li J, Liu T, Zhang Z, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95816", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95816" }, { "database": "O-GlcNAc Atlas", "id": "O95816", "url": "https://oglcnac.org/atlas/detail/O95816" } ], "reference": [ { "type": "PubMed", "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95816", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95816" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95816", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95816" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "O-GlcNAcylation promotes fatty acid synthase activity under nutritional stress as a pro-survival mechanism in cancer cells.", "journal": "Proteomics", "date": "2022", "authors": "Wong YK, Wang J, Lim TK, Lin Q, Yap CT, Shen HM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95816", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95816" } ], "reference": [ { "type": "PubMed", "id": "35083852", "url": "https://glygen.org/publication/PubMed/35083852" } ] }, { "title": "c-MYC-USP49-BAG2 axis promotes proliferation and chemoresistance of colorectal cancer cells in vitro.", "journal": "Biochemical and biophysical research communications", "date": "2022", "authors": "Tu R, Kang W, Kang Y, Chen Z, Zhang P, Xiong X, Ma J, Du RL, Zhang C", "evidence": [ { "database": "RefSeq", "id": "NP_004273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004273" } ], "reference": [ { "type": "PubMed", "id": "35367823", "url": "https://glygen.org/publication/PubMed/35367823" } ] }, { "title": "BAG2 prevents Tau hyperphosphorylation and increases p62/SQSTM1 in cell models of neurodegeneration.", "journal": "Molecular biology reports", "date": "2022", "authors": "Lima RS, Carrettiero DC, Ferrari MFR", "evidence": [ { "database": "RefSeq", "id": "NP_004273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004273" } ], "reference": [ { "type": "PubMed", "id": "35612780", "url": "https://glygen.org/publication/PubMed/35612780" } ] }, { "title": "BAG2 drives chemoresistance of breast cancer by exacerbating mutant p53 aggregate.", "journal": "Theranostics", "date": "2023", "authors": "Huang Xinjian, Shi Dongni, Zou Xuxiazi, Wu Xuxia, Huang Shumei, Kong Lingzhi, Yang Muwen, Xiao Yunyun, Chen Boyu, Chen Xiangfu, Ouyang Ying, Song Libing, Jian Yunting, Lin Chuyong", "evidence": [ { "database": "RefSeq", "id": "NP_004273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004273" } ], "reference": [ { "type": "PubMed", "id": "36593950", "url": "https://glygen.org/publication/PubMed/36593950" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95816", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95816" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Hip, a novel cochaperone involved in the eukaryotic Hsc70/Hsp40 reaction cycle.", "journal": "Cell", "date": "1995", "authors": "Hohfeld J, Minami Y, Hartl FU", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "7585962", "url": "https://glygen.org/publication/PubMed/7585962" } ] }, { "title": "Molecular cloning of human p48, a transient component of progesterone receptor complexes and an Hsp70-binding protein.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "1996", "authors": "Prapapanich V, Chen S, Nair SC, Rimerman RA, Smith DF", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "8721986", "url": "https://glygen.org/publication/PubMed/8721986" } ] }, { "title": "Repression of human heat shock factor 1 activity at control temperature by phosphorylation.", "journal": "Genes & development", "date": "1996", "authors": "Knauf U, Newton EM, Kyriakis J, Kingston RE", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "8946918", "url": "https://glygen.org/publication/PubMed/8946918" } ] }, { "title": "BAG-1 modulates the chaperone activity of Hsp70/Hsc70.", "journal": "The EMBO journal", "date": "1997", "authors": "Takayama S, Bimston DN, Matsuzawa S, Freeman BC, Aime-Sempe C, Xie Z, Morimoto RI, Reed JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "9305631", "url": "https://glygen.org/publication/PubMed/9305631" } ] }, { "title": "An evolutionarily conserved family of Hsp70/Hsc70 molecular chaperone regulators.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Takayama S, Xie Z, Reed JC", "evidence": [ { "database": "UniProtKB", "id": "O95816", "url": "https://www.uniprot.org/uniprot/O95816" }, { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "9873016", "url": "https://glygen.org/publication/PubMed/9873016" } ] }, { "title": "The cellular inhibitor of the PKR protein kinase, P58(IPK), is an influenza virus-activated co-chaperone that modulates heat shock protein 70 activity.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Melville MW, Tan SL, Wambach M, Song J, Morimoto RI, Katze MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371453", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453" } ], "reference": [ { "type": "PubMed", "id": "9920933", "url": "https://glygen.org/publication/PubMed/9920933" } ] } ], "pathway": [ { "id": "hsa:9532", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9532", "resource": "KEGG Pathway" }, { "id": "R-HSA-3371453", "name": "Regulation of HSF1-mediated heat shock response", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371453", "resource": "Reactome", "description": "Regulation of HSF1-mediated heat shock response" } ], "orthologs": [ { "uniprot_canonical_ac": "B0BN74-1", "protein_name": "Bag2 protein", "gene_name": "Bag2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { 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