{ "uniprot_canonical_ac": "O43559-1", "uniprot_ac": "O43559", "uniprot_id": "FRS3_HUMAN", "mass": { "chemical_mass": 54462.0, "monoisotopic_mass": 54462.0 }, "refseq": { "ac": "NP_006644", "name": "fibroblast growth factor receptor substrate 3", "summary": "This gene encodes a substrate for the fibroblast growth factor receptor. The encoded protein is found in the peripheral plasma membrane and links fibroblast growth factor receptor stimulation to activators of Ras. The encoded protein down-regulates extracellular regulated kinase 2 through direct binding. [provided by RefSeq, Jul 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006644" }, "gene_names": [ { "name": "FRS3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43559", "id": "O43559" }, { "name": "FRS2-beta; FRS2B; FRS2beta; SNT-2; SNT2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006644", "id": "NP_006644" }, { "name": "FRS3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006644", "id": "NP_006644" } ], "protein_names": [ { "name": "Fibroblast growth factor receptor substrate 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43559" }, { "name": "FGFR substrate 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43559" }, { "name": "FGFR-signaling adaptor SNT2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43559" }, { "name": "SNT-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43559" }, { "name": "Suc1-associated neurotrophic factor target 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43559" }, { "name": "fibroblast growth factor receptor substrate 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006644", "id": "NP_006644" }, { "name": "suc1-associated neurotrophic factor target 2 (FGFR signalling adaptor); FGFR substrate 3; FGFR-signaling adaptor SNT2; testicular tissue protein Li 71", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006644", "id": "NP_006644" } ], "function": [ { "annotation": "Adapter protein that links FGF and NGF receptors to downstream signaling pathways. Involved in the activation of MAP kinases. Down-regulates ERK2 signaling by interfering with the phosphorylation and nuclear translocation of ERK2.", "evidence": [ { "database": "UniProtKB", "id": "O43559", "url": "https://www.uniprot.org/uniprot/O43559#function" }, { "database": "PubMed", "id": "15094036", "url": "https://glygen.org/publication/PubMed/15094036" } ] }, { "annotation": "An FRS2beta-CIN85/CD2AP-Cbl axis for downregulation of ErbB2 may regulate ErbB2 protein levels in physiological and pathological settings", "evidence": [ { "database": "RefSeq", "id": "NP_006644", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006644" }, { "database": "PubMed", "id": "23279575", "url": "https://glygen.org/publication/PubMed/23279575" } ] }, { "annotation": "Mechanisms by which FRS2beta acts as a feedback inhibitor of EGFR family members and suggest a role for FRS2beta as a tumor suppressor.", "evidence": [ { "database": "RefSeq", "id": "NP_006644", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006644" }, { "database": "PubMed", "id": "20228838", "url": "https://glygen.org/publication/PubMed/20228838" } ] }, { "annotation": "This gene encodes a substrate for the fibroblast growth factor receptor. The encoded protein is found in the peripheral plasma membrane and links fibroblast growth factor receptor stimulation to activators of Ras. The encoded protein down-regulates extracellular regulated kinase 2 through direct binding. [provided by RefSeq, Jul 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_006644", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006644" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "71.61", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000137218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137218" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "58.84", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000137218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137218" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "69.43", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000137218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137218" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "77.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137218" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "81.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137218" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "72.21", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000137218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137218" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "66.79", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000137218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137218" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "74.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000137218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137218" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "80.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137218" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "65.95", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000137218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137218" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "63.23", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000137218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137218" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "79.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000137218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137218" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "76.88", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000137218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137218" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43559", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43559" } ], "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", 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"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", 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"tr|A6PVU0-1|FRS3_HUMAN Computationally mapped isoform of Fibroblast growth factor receptor substrate 3 OS=Homo sapiens OX=9606 GN=FRS3 PE=1 SV=1 CANONICAL=O43559-1" }, "locus": { "chromosome": "6", "start_pos": 41776987, "end_pos": 41775564, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000422888.5", "url": "https://www.ensembl.org/id/ENST00000422888.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000413214.1", "url": "https://www.ensembl.org/id/ENSP00000413214.1" } ] } }, { "isoform_ac": "O43559-1", "url": "", "sequence": { "sequence": "MGSCCSCLNRDSVPDNHPTKFKVTNVDDEGVELGSGVMELTQSELVLHLHRREAVRWPYLCLRRYGYDSNLFSFESGRRCQTGQGIFAFKCSRAEEIFNLLQDLMQCNSINVMEEPVIITRNSHPAELDLPRAPQPPNALGYTVSSFSNGCPGEGPRFSAPRRLSTSSLRHPSLGEESTHALIAPDEQSHTYVNTPASEDDHRRGRHCLQPLPEGQAPFLPQARGPDQRDPQVFLQPGQVKFVLGPTPARRHMVKCQGLCPSLHDPPHHNNNNEAPSECPAQPKCTYENVTGGLWRGAGWRLSPEEPGWNGLAHRRAALLHYENLPPLPPVWESQAQQLGGEAGDDGDSRDGLTPSSNGFPDGEEDETPLQKPTSTRAAIRSHGSFPVPLTRRRGSPRVFNFDFRRPGPEPPRQLNYIQVELKGWGGDRPKGPQNPSSPQAPMPTTHPARSSDSYAVIDLKKTVAMSNLQRALPRDDGTARKTRHNSTDLPL", "length": 492, "header": "sp|O43559-1|FRS3_HUMAN Isoform 1 of Fibroblast growth factor receptor substrate 3 OS=Homo sapiens OX=9606 GN=FRS3 PE=1 SV=3 CANONICAL=O43559-1" }, "locus": { "chromosome": "6", "start_pos": 41776987, "end_pos": 41770622, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000259748.6", "url": "https://www.ensembl.org/id/ENST00000259748.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000259748.2", "url": "https://www.ensembl.org/id/ENSP00000259748.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O43559", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43559" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" } ] } ], "phosphorylation": [ { "start_pos": 192, "end_pos": 192, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "PRO", "id": "O43559", "url": "http://purl.obolibrary.org/obo/O43559" }, { "database": "iPTMnet", "id": "O43559", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43559" } ], "site_lbl": "Tyr192" }, { "start_pos": 287, "end_pos": 287, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "PRO", "id": "O43559", "url": "http://purl.obolibrary.org/obo/O43559" }, { "database": "iPTMnet", "id": "O43559", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43559" } ], "site_lbl": "Tyr287" }, { "start_pos": 322, "end_pos": 322, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "PRO", "id": "O43559", "url": "http://purl.obolibrary.org/obo/O43559" }, { "database": "iPTMnet", "id": "O43559", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43559" } ], "site_lbl": "Tyr322" }, { "start_pos": 417, "end_pos": 417, "kinase_uniprot_canonical_ac": "Q16620-1", "kinase_gene_name": "NTRK2", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43559", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43559" }, { "database": "PubMed", "id": "11432792", "url": "https://glygen.org/publication/PubMed/11432792" } ], "site_lbl": "Tyr417" }, { "start_pos": 417, "end_pos": 417, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "IntAct", "id": "O43559", "url": "https://www.ebi.ac.uk/intact/interactors/id:O43559*" }, { "database": "iPTMnet", "id": "O43559", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43559" }, { "database": "PubMed", "id": "11432792", "url": "https://glygen.org/publication/PubMed/11432792" }, { "database": "PRO", "id": "O43559", "url": "http://purl.obolibrary.org/obo/O43559" } ], "site_lbl": "Tyr417" }, { "start_pos": 455, "end_pos": 455, "kinase_uniprot_canonical_ac": "Q16620-1", "kinase_gene_name": "NTRK2", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43559", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43559" }, { "database": "PubMed", "id": "11432792", "url": "https://glygen.org/publication/PubMed/11432792" } ], "site_lbl": "Tyr455" }, { "start_pos": 455, "end_pos": 455, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "IntAct", "id": "O43559", "url": "https://www.ebi.ac.uk/intact/interactors/id:O43559*" }, { "database": "iPTMnet", "id": "O43559", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43559" }, { "database": "PubMed", "id": "11432792", "url": "https://glygen.org/publication/PubMed/11432792" }, { "database": "PRO", "id": "O43559", "url": "http://purl.obolibrary.org/obo/O43559" } ], "site_lbl": "Tyr455" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Brain-derived neurotrophic factor induces phosphorylation of fibroblast growth factor receptor substrate 2.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Easton JB, Moody NM, Zhu X, Middlemas DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9028731", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9028731" } ], "reference": [ { "type": "PubMed", "id": "10196222", "url": "https://glygen.org/publication/PubMed/10196222" } ] }, { "title": "A new fusion gene TPM3-ALK in anaplastic large cell lymphoma created by a (1;2)(q25;p23) translocation.", "journal": "Blood", "date": "1999", "authors": "Lamant L, Dastugue N, Pulford K, Delsol G, Mariame B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "10216106", "url": "https://glygen.org/publication/PubMed/10216106" } ] }, { "title": "Two co-existing mechanisms for nuclear import of MAP kinase: passive diffusion of a monomer and active transport of a dimer.", "journal": "The EMBO journal", "date": "1999", "authors": "Adachi M, Fukuda M, Nishida E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "10508167", "url": "https://glygen.org/publication/PubMed/10508167" } ] }, { "title": "TRK-fused gene (TFG) is a new partner of ALK in anaplastic large cell lymphoma producing two structurally different TFG-ALK translocations.", "journal": "Blood", "date": "1999", "authors": "Hernandez L, Pinyol M, Hernandez S, Bea S, Pulford K, Rosenwald A, Lamant L, Falini B, Ott G, Mason DY, Delsol G, Campo E", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "10556217", "url": "https://glygen.org/publication/PubMed/10556217" } ] }, { "title": "FRS2 proteins recruit intracellular signaling pathways by binding to diverse targets on fibroblast growth factor and nerve growth factor receptors.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Ong SH, Guy GR, Hadari YR, Laks S, Gotoh N, Schlessinger J, Lax I", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654700", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654700" } ], "reference": [ { "type": "PubMed", "id": "10629055", "url": "https://glygen.org/publication/PubMed/10629055" } ] }, { "title": "Interaction of the Grb7 adapter protein with Rnd1, a new member of the Rho family.", "journal": "FEBS letters", "date": "2000", "authors": "Vayssiere B, Zalcman G, Mahe Y, Mirey G, Ligensa T, Weidner KM, Chardin P, Camonis J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9696270", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9696270" } ], "reference": [ { "type": "PubMed", "id": "10664463", "url": "https://glygen.org/publication/PubMed/10664463" } ] }, { "title": "ATIC-ALK: A novel variant ALK gene fusion in anaplastic large cell lymphoma resulting from the recurrent cryptic chromosomal inversion, inv(2)(p23q35).", "journal": "The American journal of pathology", "date": "2000", "authors": "Colleoni GW, Bridge JA, Garicochea B, Liu J, Filippa DA, Ladanyi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "10702393", "url": "https://glygen.org/publication/PubMed/10702393" } ] }, { "title": "A new variant anaplastic lymphoma kinase (ALK)-fusion protein (ATIC-ALK) in a case of ALK-positive anaplastic large cell lymphoma.", "journal": "Cancer research", "date": "2000", "authors": "Trinei M, Lanfrancone L, Campo E, Pulford K, Mason DY, Pelicci PG, Falini B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "10706082", "url": "https://glygen.org/publication/PubMed/10706082" } ] }, { "title": "Inv(2)(p23q35) in anaplastic large-cell lymphoma induces constitutive anaplastic lymphoma kinase (ALK) tyrosine kinase activation by fusion to ATIC, an enzyme involved in purine nucleotide biosynthesis.", "journal": "Blood", "date": "2000", "authors": "Ma Z, Cools J, Marynen P, Cui X, Siebert R, Gesk S, Schlegelberger B, Peeters B, De Wolf-Peeters C, Wlodarska I, Morris SW", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "10706887", "url": "https://glygen.org/publication/PubMed/10706887" } ] }, { "title": "A novel RalGEF-like protein, RGL3, as a candidate effector for rit and Ras.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Shao H, Andres DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "10869344", "url": "https://glygen.org/publication/PubMed/10869344" } ] }, { "title": "TPM3-ALK and TPM4-ALK oncogenes in inflammatory myofibroblastic tumors.", "journal": "The American journal of pathology", "date": "2000", "authors": "Lawrence B, Perez-Atayde A, Hibbard MK, Rubin BP, Dal Cin P, Pinkus JL, Pinkus GS, Xiao S, Yi ES, Fletcher CD, Fletcher JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "10934142", "url": "https://glygen.org/publication/PubMed/10934142" } ] }, { "title": "Flt3 ligand induces tyrosine phosphorylation of gab1 and gab2 and their association with shp-2, grb2, and PI3 kinase.", "journal": "Biochemical and biophysical research communications", "date": "2000", "authors": "Zhang S, Broxmeyer HE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "11027663", "url": "https://glygen.org/publication/PubMed/11027663" } ] }, { "title": "Flt3 mutations from patients with acute myeloid leukemia induce transformation of 32D cells mediated by the Ras and STAT5 pathways.", "journal": "Blood", "date": "2000", "authors": "Mizuki M, Fenski R, Halfter H, Matsumura I, Schmidt R, Muller C, Gruning W, Kratz-Albers K, Serve S, Steur C, Buchner T, Kienast J, Kanakura Y, Berdel WE, Serve H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "11090077", "url": "https://glygen.org/publication/PubMed/11090077" } ] }, { "title": "Nucleophosmin-anaplastic lymphoma kinase associated with anaplastic large-cell lymphoma activates the phosphatidylinositol 3-kinase/Akt antiapoptotic signaling pathway.", "journal": "Blood", "date": "2000", "authors": "Bai RY, Ouyang T, Miething C, Morris SW, Peschel C, Duyster J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "11110708", "url": "https://glygen.org/publication/PubMed/11110708" } ] }, { "title": "Crystal structure and functional analysis of Ras binding to its effector phosphoinositide 3-kinase gamma.", "journal": "Cell", "date": "2000", "authors": "Pacold ME, Suire S, Perisic O, Lara-Gonzalez S, Davis CT, Walker EH, Hawkins PT, Stephens L, Eccleston JF, Williams RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "11136978", "url": "https://glygen.org/publication/PubMed/11136978" } ] }, { "title": "Role of phosphatidylinositol 3-kinase-Akt pathway in nucleophosmin/anaplastic lymphoma kinase-mediated lymphomagenesis.", "journal": "Cancer research", "date": "2001", "authors": "Slupianek A, Nieborowska-Skorska M, Hoser G, Morrione A, Majewski M, Xue L, Morris SW, Wasik MA, Skorski T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "11280786", "url": "https://glygen.org/publication/PubMed/11280786" } ] }, { "title": "Molecular characterization of a new ALK translocation involving moesin (MSN-ALK) in anaplastic large cell lymphoma.", "journal": "Laboratory investigation; a journal of technical methods and pathology", "date": "2001", "authors": "Tort F, Pinyol M, Pulford K, Roncador G, Hernandez L, Nayach I, Kluin-Nelemans HC, Kluin P, Touriol C, Delsol G, Mason D, Campo E", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "11310834", "url": "https://glygen.org/publication/PubMed/11310834" } ] }, { "title": "A novel potential effector of M-Ras and p21 Ras negatively regulates p21 Ras-mediated gene induction and cell growth.", "journal": "Oncogene", "date": "2001", "authors": "Ehrhardt GR, Korherr C, Wieler JS, Knaus M, Schrader JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "11313946", "url": "https://glygen.org/publication/PubMed/11313946" } ] }, { "title": "Stimulation of phosphatidylinositol 3-kinase by fibroblast growth factor receptors is mediated by coordinated recruitment of multiple docking proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Ong SH, Hadari YR, Gotoh N, Guy GR, Schlessinger J, Lax I", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654706", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654706" } ], "reference": [ { "type": "PubMed", "id": "11353842", "url": "https://glygen.org/publication/PubMed/11353842" } ] }, { "title": "Analysis of tyrosine phosphorylation-dependent protein-protein interactions in TrkB-mediated intracellular signaling using modified yeast two-hybrid system.", "journal": "Journal of biochemistry", "date": "2001", "authors": "Yamada M, Suzuki K, Mizutani M, Asada A, Matozaki T, Ikeuchi T, Koizumi S, Hatanaka H", "evidence": [ { "database": "iPTMnet", "id": "O43559", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43559" } ], "reference": [ { "type": "PubMed", "id": "11432792", "url": "https://glygen.org/publication/PubMed/11432792" } ] }, { "title": "Critical role for the docking-protein FRS2 alpha in FGF receptor-mediated signal transduction pathways.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Hadari YR, Gotoh N, Kouhara H, Lax I, Schlessinger J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5654706", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5654706" } ], "reference": [ { "type": "PubMed", "id": "11447289", "url": "https://glygen.org/publication/PubMed/11447289" } ] }, { "title": "A phosphatidylinositol 3-kinase/Akt pathway promotes translocation of Mdm2 from the cytoplasm to the nucleus.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Mayo LD, Donner DB", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "11504915", "url": "https://glygen.org/publication/PubMed/11504915" } ] }, { "title": "Evidence for existence of a nuclear pore complex-mediated, cytosol-independent pathway of nuclear translocation of ERK MAP kinase in permeabilized cells.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Matsubayashi Y, Fukuda M, Nishida E", "evidence": [ { 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Carpentieri DF, Odum N, Morris S, Skorski T, Wasik MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9725370", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9725370" } ], "reference": [ { "type": "PubMed", "id": "11751994", "url": "https://glygen.org/publication/PubMed/11751994" } ] }, { "title": "Antagonistic effects of Rnd1 and RhoD GTPases regulate receptor activity in Semaphorin 3A-induced cytoskeletal collapse.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2002", "authors": "Zanata SM, Hovatta I, Rohm B, Puschel AW", "evidence": [ { "database": "Reactome", "id": "R-HSA-9696273", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9696273" } ], "reference": [ { "type": "PubMed", "id": "11784792", "url": "https://glygen.org/publication/PubMed/11784792" } ] }, { "title": "Anaplastic lymphoma kinase (ALK) activates Stat3 and protects hematopoietic cells from cell death.", "journal": "Oncogene", "date": 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