{ "uniprot_canonical_ac": "P04198-1", "uniprot_ac": "P04198", "uniprot_id": "MYCN_HUMAN", "mass": { "chemical_mass": 49561.0, "monoisotopic_mass": 49561.0 }, "refseq": { "ac": "NP_001280160", "name": "N-myc proto-oncogene protein isoform 2", "summary": "This gene is a member of the MYC family and encodes a protein with a basic helix-loop-helix (bHLH) domain. This protein is located in the nucleus and must dimerize with another bHLH protein in order to bind DNA. Amplification of this gene is associated with a variety of tumors, most notably neuroblastomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280160" }, "gene_names": [ { "name": "MYCN", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P04198", "id": "P04198" }, { "name": "BHLHE37", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04198", "id": "P04198" }, { "name": "MYCN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280160", "id": "NP_001280160" }, { "name": "NMYC", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04198", "id": "P04198" }, { "name": "bHLHe37; MODED; MYCNsORF; MYCNsPEP; N-myc; NMYC; ODED", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280160", "id": "NP_001280160" } ], "protein_names": [ { "name": "N-myc proto-oncogene protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P04198" }, { "name": "Class E basic helix-loop-helix protein 37", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04198" }, { "name": "N-myc proto-oncogene protein isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280160", "id": "NP_001280160" }, { "name": "bHLHe37", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04198" }, { "name": "neuroblastoma MYC oncogene; N-myc proto-oncogene protein; oncogene NMYC; neuroblastoma-derived v-myc avian myelocytomatosis viral related oncogene; class E basic helix-loop-helix protein 37; v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280160", "id": "NP_001280160" } ], "function": [ { "annotation": "Computational completion of the Aurora interaction region of N-Myc in the Aurora a kinase complex. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001280160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280160" }, { "database": "PubMed", "id": "37884585", "url": "https://glygen.org/publication/PubMed/37884585" } ] }, { "annotation": "Existence of upstream ORF in MYCN transcripts leads to a new level of MYCN regulation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001280160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280160" }, { "database": "PubMed", "id": "20017904", "url": "https://glygen.org/publication/PubMed/20017904" } ] }, { "annotation": "MYCN and SNRPD3 cooperate to maintain a balance of alternative splicing events that drives neuroblastoma progression.", "evidence": [ { "database": "RefSeq", "id": "NP_001280160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280160" }, { "database": "PubMed", "id": "38049564", "url": "https://glygen.org/publication/PubMed/38049564" } ] }, { "annotation": "Positively regulates the transcription of MYCNOS in neuroblastoma cells.", "evidence": [ { "database": "UniProtKB", "id": "P04198", "url": "https://www.uniprot.org/uniprot/P04198#function" }, { "database": "PubMed", "id": "24391509", "url": "https://glygen.org/publication/PubMed/24391509" } ] }, { "annotation": "This gene is a member of the MYC family and encodes a protein with a basic helix-loop-helix (bHLH) domain. This protein is located in the nucleus and must dimerize with another bHLH protein in order to bind DNA. Amplification of this gene is associated with a variety of tumors, most notably neuroblastomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001280160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280160" } ] }, { "annotation": "USP7 Inhibition Suppresses Neuroblastoma Growth via Induction of p53-Mediated Apoptosis and EZH2 and N-Myc Downregulation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001280160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280160" }, { "database": "PubMed", "id": "37762082", "url": "https://glygen.org/publication/PubMed/37762082" } ] } ], "disease": [ { "disease_id": "DOID:0060464", "recommended_name": { "id": "DOID:0060464", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060464", "name": "Feingold syndrome", "description": "A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation." }, "synonyms": [ { "id": "DOID:0060464", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060464", "name": "microcephaly-oculo-digito-esophageal-duodenal syndrome", "description": "" }, { "id": "DOID:0060464", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060464", "name": "microcephaly-digital anomalies-normal intelligence syndrome", "description": "" }, { "id": "DOID:0060464", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060464", "name": "FGLDS", "description": "" }, { "id": "DOID:0060464", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060464", "name": "MODED syndrome", "description": "" }, { "id": "DOID:0060464", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060464", "name": "ODED syndrome", "description": "" }, { "id": "DOID:0060464", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060464", "name": "oculo-digito-esophageal-duodenal syndrome", "description": "" }, { "id": "DOID:0060464", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060464", "name": "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum", "description": "" }, { "id": "MONDO:0013691", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013691", "name": "Feingold syndrome type 2", "description": "Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures." }, { "id": "MONDO:0013691", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013691", "name": "Brunner-Winter syndrome type 2", "description": "" }, { "id": "MONDO:0013691", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013691", "name": "FGLDS2", "description": "" }, { "id": "MONDO:0013691", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013691", "name": "FS2", "description": "" }, { "id": "MONDO:0013691", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013691", "name": "Feingold syndrome type 2", "description": "" }, { "id": "MONDO:0013691", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013691", "name": "MMT type 2", "description": "" }, { "id": "MONDO:0013691", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013691", "name": "brachydactyly-short stature-microcephaly syndrome", "description": "" }, { "id": "MONDO:0013691", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013691", "name": "microcephaly-digital anomalies-normal intelligence syndrome type 2", "description": "" }, { "id": "MONDO:0013691", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013691", "name": "microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2", "description": "" }, { "id": "MONDO:0013691", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013691", "name": "Feingold syndrome 2", "description": "" }, { "id": "MONDO:0013691", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013691", "name": "brachydactyly with short stature and microcephaly", "description": "" }, { "id": "MONDO:0008115", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008115", "name": "Feingold syndrome type 1", "description": "Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies." }, { "id": "MONDO:0008115", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008115", "name": "Brunner-Winter syndrome type 1", "description": "" }, { "id": "MONDO:0008115", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008115", "name": "FGLDS1", "description": "" }, { "id": "MONDO:0008115", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008115", "name": "FS1", "description": "" }, { "id": "MONDO:0008115", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008115", "name": "Feingold syndrome caused by mutation in MYCN", "description": "" }, { "id": "MONDO:0008115", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008115", "name": "Feingold syndrome type 1", "description": "" }, { "id": "MONDO:0008115", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008115", "name": "MMT type 1", "description": "" }, { "id": "MONDO:0008115", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008115", "name": "MODED syndrome type 1", "description": "" }, { "id": "MONDO:0008115", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008115", "name": "MYCN Feingold syndrome", "description": "" }, { "id": "MONDO:0008115", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008115", "name": "ODED syndrome type 1", "description": "" }, { "id": "MONDO:0008115", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008115", "name": "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1", "description": "" }, { "id": "MONDO:0008115", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008115", "name": "digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum type 1", "description": "" }, { "id": "MONDO:0008115", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008115", "name": "microcephaly-digital anomalies-normal intelligence syndrome type 1", "description": "" }, { "id": "MONDO:0008115", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008115", "name": "microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1", "description": "" }, { "id": "MONDO:0008115", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008115", "name": "microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1", "description": "" }, { "id": "MONDO:0008115", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008115", "name": "oculo-digito-esophageal-duodenal syndrome type 1", "description": "" }, { "id": "MONDO:0008115", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008115", "name": "Feingold syndrome", "description": "" }, { "id": "MONDO:0008115", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008115", "name": "Feingold syndrome 1", "description": "" }, { "id": "MONDO:0008115", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008115", "name": "Mmt syndrome", "description": "" }, { "id": "MONDO:0008115", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008115", "name": "Oded syndrome", "description": "" }, { "id": "MONDO:0008115", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008115", "name": "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum", "description": "" }, { "id": "MONDO:0008115", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008115", "name": "digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum", "description": "" }, { "id": "MONDO:0008115", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008115", "name": "microcephaly and digital abnormalities with normal intelligence", "description": "" }, { "id": "MONDO:0008115", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008115", "name": "microcephaly, intellectual disability, and tracheoesophageal fistula syndrome", "description": "" }, { "id": "MONDO:0008115", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008115", "name": "microcephaly, mental retardation, and tracheoesophageal fistula syndrome", "description": "" }, { "id": "MONDO:0008115", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008115", "name": "microcephaly-oculo-digito-esophageal-duodenal syndrome", "description": "" }, { "id": "MONDO:0008115", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008115", "name": "oculodigitoesophagoduodenal syndrome", "description": "" }, { "id": "MIM:614326", "resource": "MIM", "url": "https://www.omim.org/entry/614326", "name": "Feingold syndrome 2", "description": "Feingold syndrome 2" }, { "id": "MIM:164280", "resource": "MIM", "url": "https://www.omim.org/entry/164280", "name": "Feingold syndrome 1", "description": "Feingold syndrome 1" } ], "evidence": [ { "id": "164280", "database": "MIM", "url": "https://www.omim.org/entry/164280" } ] } ], "snv": [ { "evidence": [ { "id": "P04198", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04198" }, { "id": "rs1421384102", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1421384102" }, { "id": "rs1421384102", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1421384102#frequency_tab" }, { "id": "rs1421384102", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1421384102" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 259, "end_pos": 259, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (TLS->NLS).", "chr_id": "2", "chr_pos": "15942840", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T259", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "P04198", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04198" } ], "glycoeffect": [], "start_pos": 302, "end_pos": 302, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "15945606", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R302", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": 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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": "P04198", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04198" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04198" } ], "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": "P04198", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04198" } ], "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", 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"date": "2000", "authors": "Bai RY, Ouyang T, Miething C, Morris SW, Peschel C, Duyster J", "evidence": [ { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" } ], "reference": [ { "type": "PubMed", "id": "11110708", "url": "https://glygen.org/publication/PubMed/11110708" } ] }, { "title": "Activation of anaplastic lymphoma kinase receptor tyrosine kinase induces neuronal differentiation through the mitogen-activated protein kinase pathway.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Souttou B, Carvalho NB, Raulais D, Vigny M", "evidence": [ { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" } ], "reference": [ { "type": "PubMed", "id": "11121404", "url": "https://glygen.org/publication/PubMed/11121404" } ] }, { "title": "Identification of anaplastic lymphoma kinase as a receptor for the growth factor pleiotrophin.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Stoica GE, Kuo A, Aigner A, Sunitha I, Souttou B, Malerczyk C, Caughey DJ, Wen D, Karavanov A, Riegel AT, Wellstein A", "evidence": [ { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" } ], "reference": [ { "type": "PubMed", "id": "11278720", "url": "https://glygen.org/publication/PubMed/11278720" } ] }, { "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-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" } ], "reference": [ { "type": "PubMed", "id": "11280786", "url": "https://glygen.org/publication/PubMed/11280786" } ] }, { "title": "Signaling via 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cell death.", "journal": "Oncogene", "date": "2002", "authors": "Zamo A, Chiarle R, Piva R, Howes J, Fan Y, Chilosi M, Levy DE, Inghirami G", "evidence": [ { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" } ], "reference": [ { "type": "PubMed", "id": "11850821", "url": "https://glygen.org/publication/PubMed/11850821" } ] }, { "title": "Midkine binds to anaplastic lymphoma kinase (ALK) and acts as a growth factor for different cell types.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Stoica GE, Kuo A, Powers C, Bowden ET, Sale EB, Riegel AT, Wellstein A", "evidence": [ { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" } ], "reference": [ { "type": "PubMed", "id": "12122009", "url": "https://glygen.org/publication/PubMed/12122009" } ] }, { "title": "NPM-ALK transgenic mice spontaneously develop T-cell lymphomas and plasma cell tumors.", "journal": "Blood", "date": "2003", "authors": "Chiarle R, Gong JZ, Guasparri I, Pesci A, Cai J, Liu J, Simmons WJ, Dhall G, Howes J, Piva R, Inghirami G", "evidence": [ { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" } ], "reference": [ { "type": "PubMed", "id": "12424201", "url": "https://glygen.org/publication/PubMed/12424201" } ] }, { "title": "Inhibition of JAK3 induces apoptosis and decreases anaplastic lymphoma kinase activity in anaplastic large cell lymphoma.", "journal": "Oncogene", "date": "2003", "authors": "Amin HM, Medeiros LJ, Ma Y, Feretzaki M, Das P, Leventaki V, Rassidakis GZ, O'Connor SL, McDonnell TJ, Lai R", "evidence": [ { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" } ], "reference": [ { "type": "PubMed", "id": "12934099", "url": "https://glygen.org/publication/PubMed/12934099" } ] }, { "title": "Specific phosphorylation of the acidic central region of the N-myc protein by casein kinase II.", "journal": "European journal of biochemistry", "date": "1992", "authors": "Hagiwara T, Nakaya K, Nakamura Y, Nakajima H, Nishimura S, Taya Y", "evidence": [ { "database": "UniProtKB", "id": "P04198", "url": "https://www.uniprot.org/uniprot/P04198" }, { "database": "iPTMnet", "id": "P04198", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04198" } ], "reference": [ { "type": "PubMed", "id": "1425701", "url": "https://glygen.org/publication/PubMed/1425701" } ] }, { "title": "Nucleophosmin-anaplastic lymphoma kinase of anaplastic large-cell lymphoma recruits, activates, and uses pp60c-src to mediate its mitogenicity.", "journal": "Blood", "date": "2004", "authors": "Cussac D, Greenland C, Roche S, Bai RY, Duyster J, Morris SW, Delsol G, Allouche M, Payrastre B", "evidence": [ { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" } ], "reference": [ { "type": "PubMed", "id": "14563642", "url": "https://glygen.org/publication/PubMed/14563642" } ] }, { "title": "NPM-ALK fusion kinase of anaplastic large-cell lymphoma regulates survival and proliferative signaling through modulation of FOXO3a.", "journal": "Blood", "date": "2004", "authors": "Gu TL, Tothova Z, Scheijen B, Griffin JD, Gilliland DG, Sternberg DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" } ], "reference": [ { "type": "PubMed", "id": "14962911", "url": "https://glygen.org/publication/PubMed/14962911" } ] }, { "title": "ALK receptor tyrosine kinase promotes cell growth and neurite outgrowth.", "journal": "Journal of cell science", "date": "2004", "authors": "Motegi A, Fujimoto J, Kotani M, Sakuraba H, Yamamoto T", "evidence": [ { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" } ], "reference": [ { "type": "PubMed", "id": 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Biol.", "date": "1987", "authors": "Stanton LW, Bishop JM", "evidence": [ { "database": "UniProtKB", "id": "P04198", "url": "https://www.uniprot.org/uniprot/P04198" } ], "reference": [ { "type": "PubMed", "id": "3437890", "url": "https://glygen.org/publication/PubMed/3437890" } ] }, { "title": "Structural basis of cytokine-mediated activation of ALK family receptors.", "journal": "Nature", "date": "2021", "authors": "De Munck S, Provost M, Kurikawa M, Omori I, Mukohyama J, Felix J, Bloch Y, Abdel-Wahab O, Bazan JF, Yoshimi A, Savvides SN", "evidence": [ { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" } ], "reference": [ { "type": "PubMed", "id": "34646012", "url": "https://glygen.org/publication/PubMed/34646012" } ] }, { "title": "Mechanism for the activation of the anaplastic lymphoma kinase receptor.", "journal": "Nature", "date": "2021", "authors": "Reshetnyak AV, Rossi P, Myasnikov AG, Sowaileh M, Mohanty J, Nourse A, Miller DJ, Lax I, Schlessinger J, Kalodimos CG", "evidence": [ { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" } ], "reference": [ { "type": "PubMed", "id": "34819673", "url": "https://glygen.org/publication/PubMed/34819673" } ] }, { "title": "Human N-myc is closely related in organization and nucleotide sequence to c-myc.", "journal": "Nature", "date": "1986", "authors": "Kohl N E, Legouy E, DePinho R A, Nisen P D, Smith R K, Gee C E, Alt F W", "evidence": [ { "database": "UniProtKB", "id": "P04198", "url": "https://www.uniprot.org/uniprot/P04198" } ], "reference": [ { "type": "PubMed", "id": "3510398", "url": "https://glygen.org/publication/PubMed/3510398" } ] }, { "title": "USP7 Inhibition Suppresses Neuroblastoma Growth via Induction of p53-Mediated Apoptosis and EZH2 and N-Myc Downregulation.", "journal": "International journal of molecular sciences", "date": "2023-09-07", "authors": "Le Clorennec Christophe, Lee Karen, Huo Yuchen, Zage Peter E", "evidence": [ { "database": "RefSeq", "id": "NP_001280160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280160" } ], "reference": [ { "type": "PubMed", "id": "37762082", "url": "https://glygen.org/publication/PubMed/37762082" } ] }, { "title": "Computational completion of the Aurora interaction region of N-Myc in the Aurora a kinase complex.", "journal": "Scientific reports", "date": "2023-10-26", "authors": "Altiner Pinar, \u00c7\u0131naro\u011flu S\u00fcleyman Selim, Timucin Ahmet Can, Timucin Emel", "evidence": [ { "database": "RefSeq", "id": "NP_001280160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280160" } ], "reference": [ { "type": "PubMed", "id": "37884585", "url": "https://glygen.org/publication/PubMed/37884585" } ] }, { "title": "MYCN and SNRPD3 cooperate to maintain a balance of alternative splicing events that drives neuroblastoma progression.", "journal": "Oncogene", "date": "2023-12-04", "authors": "Salib Alice, Jayatilleke Nisitha, Seneviratne Janith A, Mayoh Chelsea, De Preter Katleen, Speleman Frank, Cheung Belamy B, Carter Daniel R, Marshall Glenn M", "evidence": [ { "database": "RefSeq", "id": "NP_001280160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280160" } ], "reference": [ { "type": "PubMed", "id": "38049564", "url": "https://glygen.org/publication/PubMed/38049564" } ] }, { "title": "Characterization of the transforming activity of p80, a hyperphosphorylated protein in a Ki-1 lymphoma cell line with chromosomal translocation t(2;5).", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Fujimoto J, Shiota M, Iwahara T, Seki N, Satoh H, Mori S, Yamamoto T", "evidence": [ { "database": "Reactome", "id": "R-HSA-201556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201556" } ], "reference": [ { "type": "PubMed", "id": "8633037", "url": "https://glygen.org/publication/PubMed/8633037" } ] }, { "title": 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