{ "uniprot_canonical_ac": "A0A0G2JVC1-1", "ptm_annotation": [], "sequence": { "header": "tr|A0A0G2JVC1-1|A0A0G2JVC1_RAT Isoform 1 of E3 ubiquitin-protein ligase Mdm2 OS=Rattus norvegicus OX=10116 GN=Mdm2 PE=1 SV=1 CANONICAL=A0A0G2JVC1-1", "length": 483, "sequence": "MCNTNMSVSTEGAAGTSQIPASEQETLVRPKPLLLKLLKSVGAQKDIYTMKEIIFYIGQYIMTKRLYDEKQQHIVYCSNDLLGDVFGVPSFSVKEHRKIYAMIYRNLVVVSQQDSGTSPSESRCQPEGGSDLKDPVQASQEEKPSSSDVVSRPSTSSRRRAISETEENTDELPGERQRKRHRALSFDESLGLCVLREICCERSSSSEATDTPSHQDLDDGVSDHSADCLDQDSVSDQFSVEFEVESLDSEDYSLSDEGHELSDEDDEVYRVTVYQAGESDADSFEGDPEISLADYWKCTSCNEMNPPLPSHCNRCWTLRENWLPDDKGKDKVEISEKAKLESSDQAEEGLDVPDGKKVTEDDAKESSAEDSEEKVAQMLLSQESDDYSQPSTSSSIVYSSQESGKELKEDTQDKEESMESSFSLNAIEPCVICQGRPKNGCIVHGKTGHLMSCFTCAKKLKKRNKPCPVCRQPIQMIVLTYFN" }, "uniprot_id": "A0A0G2JVC1_RAT", "enzyme_annotation": [ { "ec": "2.3.2.27", "activity": "" }, { "ec": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine." } ], "glycation": [], "keywords": [], "species": [ { "common_name": "Rat", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "Rattus norvegicus", "taxid": 10116 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22673903", "type": [ "PubMed" ], "id": "22673903" } ], "title": "Quantitative maps of protein phosphorylation sites across 14 different rat organs and tissues.", "journal": "Nat. Commun.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "authors": "Olsen J.V., Lage K., Secher A., Dmytriyev A., Lundby A., Lundby C., Nordsborg N.B.", "date": "2012" } ], "uniprot_ac": "A0A0G2JVC1", "site_annotation": [ { "end_pos": 7, "annotation": "n_glycosylation_sequon", "start_pos": 5 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1#A0A0G2JVC1-1", "isoform_ac": "A0A0G2JVC1-1", "locus": { "end_pos": 60720300, "strand": "+", "start_pos": 60742415, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOT00000086116", "id": "ENSRNOT00000086116", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSRNOP00000069425", "id": "ENSRNOP00000069425", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0G2JVC1-1|A0A0G2JVC1_RAT Isoform 1 of E3 ubiquitin-protein ligase Mdm2 OS=Rattus norvegicus OX=10116 GN=Mdm2 PE=1 SV=1 CANONICAL=A0A0G2JVC1-1", "length": 483, "sequence": "MCNTNMSVSTEGAAGTSQIPASEQETLVRPKPLLLKLLKSVGAQKDIYTMKEIIFYIGQYIMTKRLYDEKQQHIVYCSNDLLGDVFGVPSFSVKEHRKIYAMIYRNLVVVSQQDSGTSPSESRCQPEGGSDLKDPVQASQEEKPSSSDVVSRPSTSSRRRAISETEENTDELPGERQRKRHRALSFDESLGLCVLREICCERSSSSEATDTPSHQDLDDGVSDHSADCLDQDSVSDQFSVEFEVESLDSEDYSLSDEGHELSDEDDEVYRVTVYQAGESDADSFEGDPEISLADYWKCTSCNEMNPPLPSHCNRCWTLRENWLPDDKGKDKVEISEKAKLESSDQAEEGLDVPDGKKVTEDDAKESSAEDSEEKVAQMLLSQESDDYSQPSTSSSIVYSSQESGKELKEDTQDKEESMESSFSLNAIEPCVICQGRPKNGCIVHGKTGHLMSCFTCAKKLKKRNKPCPVCRQPIQMIVLTYFN" } }, { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1#D3ZVH5-1", "isoform_ac": "D3ZVH5-1", "locus": { "end_pos": 60720300, "strand": "+", "start_pos": 60742415, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOT00000066767", "id": "ENSRNOT00000066767", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSRNOP00000063449", "id": "ENSRNOP00000063449", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|D3ZVH5-1|A0A0G2JVC1_RAT Computationally mapped isoform of E3 ubiquitin-protein ligase Mdm2 OS=Rattus norvegicus OX=10116 GN=Mdm2 PE=1 SV=1 CANONICAL=A0A0G2JVC1-1", "length": 458, "sequence": "MCNTNMSVSTEGAAGTSQIPASEQETLIIFYIGQYIMTKRLYDEKQQHIVYCSNDLLGDVFGVPSFSVKEHRKIYAMIYRNLVVVSQQDSGTSPSESRCQPEGGSDLKDPVQASQEEKPSSSDVVSRPSTSSRRRAISETEENTDELPGERQRKRHRALSFDESLGLCVLREICCERSSSSEATDTPSHQDLDDGVSDHSADCLDQDSVSDQFSVEFEVESLDSEDYSLSDEGHELSDEDDEVYRVTVYQAGESDADSFEGDPEISLADYWKCTSCNEMNPPLPSHCNRCWTLRENWLPDDKGKDKVEISEKAKLESSDQAEEGLDVPDGKKVTEDDAKESSAEDSEEKVAQMLLSQESDDYSQPSTSSSIVYSSQESGKELKEDTQDKEESMESSFSLNAIEPCVICQGRPKNGCIVHGKTGHLMSCFTCAKKLKKRNKPCPVCRQPIQMIVLTYFN" } } ], "pathway": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-198323", "resource": "Reactome", "id": "R-RNO-198323", "name": "AKT phosphorylates targets in the cytosol" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-2559580", "resource": "Reactome", "id": "R-RNO-2559580", "name": "Oxidative Stress Induced Senescence" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-2559585", "resource": "Reactome", "id": "R-RNO-2559585", "name": "Oncogene Induced Senescence" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-3232142", "resource": "Reactome", "id": "R-RNO-3232142", "name": "SUMOylation of ubiquitinylation proteins" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-399719", "resource": "Reactome", "id": "R-RNO-399719", "name": "Trafficking of AMPA receptors" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5689880", "resource": "Reactome", "id": "R-RNO-5689880", "name": "Ub-specific processing proteases" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-6804756", "resource": "Reactome", "id": "R-RNO-6804756", "name": "Regulation of TP53 Activity through Phosphorylation" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-6804757", "resource": "Reactome", "id": "R-RNO-6804757", "name": "Regulation of TP53 Degradation" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-6804760", "resource": "Reactome", "id": "R-RNO-6804760", "name": "Regulation of TP53 Activity through Methylation" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-69541", "resource": "Reactome", "id": "R-RNO-69541", "name": "Stabilization of p53" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-8941858", "resource": "Reactome", "id": "R-RNO-8941858", "name": "Regulation of RUNX3 expression and activity" } ], "function": [], "orthologs": [ { "uniprot_canonical_ac": "P23804-1", "protein_name": "E3 ubiquitin-protein ligase Mdm2", "sequence": { "length": 489, "sequence": "MCNTNMSVSTEGAASTSQIPASEQETLVRPKPLLLKLLKSVGAQNDTYTMKEIIFYIGQYIMTKRLYDEKQQHIVYCSNDLLGDVFGVPSFSVKEHRKIYAMIYRNLVAVSQQDSGTSLSESRRQPEGGSDLKDPLQAPPEEKPSSSDLISRLSTSSRRRSISETEENTDELPGERHRKRRRSLSFDPSLGLCELREMCSGGSSSSSSSSSESTETPSHQDLDDGVSEHSGDCLDQDSVSDQFSVEFEVESLDSEDYSLSDEGHELSDEDDEVYRVTVYQTGESDTDSFEGDPEISLADYWKCTSCNEMNPPLPSHCKRCWTLRENWLPDDKGKDKVEISEKAKLENSAQAEEGLDVPDGKKLTENDAKEPCAEEDSEEKAEQTPLSQESDDYSQPSTSSSIVYSSQESVKELKEETQDKDESVESSFSLNAIEPCVICQGRPKNGCIVHGKTGHLMSCFTCAKKLKKRNKPCPVCRQPIQMIVLTYFN" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/1793", "id": "1793", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A0A0G2JVC1/", "id": "A0A0G2JVC1", "database": "OMA" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Mdm2", "tax_id": 10090 }, { "uniprot_canonical_ac": "Q00987-1", "protein_name": "E3 ubiquitin-protein ligase Mdm2", "sequence": { "length": 491, "sequence": "MCNTNMSVPTDGAVTTSQIPASEQETLVRPKPLLLKLLKSVGAQKDTYTMKEVLFYLGQYIMTKRLYDEKQQHIVYCSNDLLGDLFGVPSFSVKEHRKIYTMIYRNLVVVNQQESSDSGTSVSENRCHLEGGSDQKDLVQELQEEKPSSSHLVSRPSTSSRRRAISETEENSDELSGERQRKRHKSDSISLSFDESLALCVIREICCERSSSSESTGTPSNPDLDAGVSEHSGDWLDQDSVSDQFSVEFEVESLDSEDYSLSEEGQELSDEDDEVYQVTVYQAGESDTDSFEEDPEISLADYWKCTSCNEMNPPLPSHCNRCWALRENWLPEDKGKDKGEISEKAKLENSTQAEEGFDVPDCKKTIVNDSRESCVEENDDKITQASQSQESEDYSQPSTSSSIIYSSQEDVKEFEREETQDKEESVESSLPLNAIEPCVICQGRPKNGCIVHGKTGHLMACFTCAKKLKKRNKPCPVCRQPIQMIVLTYFP" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/1793", "id": "1793", "database": "MGI" } ], "common_name": "Human", "organism": "Homo sapiens", "gene_name": "MDM2", "tax_id": 9606 } ], "interactions": [], "synthesized_glycans": [], "snv": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006241444.1", "ac": "XP_006241444.1", "name": "E3 ubiquitin-protein ligase Mdm2 isoform X2", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "pmid": "16330492", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "ubiquitin-protein transferase activity", "id": "GO:0004842" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002039", "pmid": "16330492", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "p53 binding", "id": "GO:0002039" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002039", "pmid": "23941874", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "p53 binding", "id": "GO:0002039" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "zinc ion binding", "id": "GO:0008270" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008097", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "5S rRNA binding", "id": "GO:0008097" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042975", "pmid": "19103650", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "peroxisome proliferator activated receptor binding", "id": "GO:0042975" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033612", "pmid": "26228571", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "receptor serine/threonine kinase binding", "id": "GO:0033612" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "enzyme binding", "id": "GO:0019899" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "protein domain specific binding", "id": "GO:0019904" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "identical protein binding", "id": "GO:0042802" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043021", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "ribonucleoprotein complex binding", "id": "GO:0043021" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "ubiquitin protein ligase binding", "id": "GO:0031625" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "ubiquitin protein ligase activity", "id": "GO:0061630" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047485", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "protein N-terminus binding", "id": "GO:0047485" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "scaffold protein binding", "id": "GO:0097110" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043130", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "ubiquitin binding", "id": "GO:0043130" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019789", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "SUMO transferase activity", "id": "GO:0019789" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097718", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "disordered domain specific binding", "id": "GO:0097718" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016874", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "ligase activity", "id": "GO:0016874" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061663", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "NEDD8 ligase activity", "id": "GO:0061663" } ], "total": 20, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "pmid": "17107963", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "nucleus", "id": "GO:0005634" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "pmid": "19819240", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "cytosol", "id": "GO:0005829" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "pmid": "14642282", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "plasma membrane", "id": "GO:0005886" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "nucleolus", "id": "GO:0005730" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "pmid": "14642282", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "synapse", "id": "GO:0045202" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "nucleoplasm", "id": "GO:0005654" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "cytoplasm", "id": "GO:0005737" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "nuclear body", "id": "GO:0016604" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "protein-containing complex", "id": "GO:0032991" } ], "total": 9, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "pmid": "19103650", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "positive regulation of gene expression", "id": "GO:0010628" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "pmid": "19850968", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "negative regulation of gene expression", "id": "GO:0010629" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "pmid": "16598789", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "response to toxic substance", "id": "GO:0009636" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "pmid": "17905399", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "response to toxic substance", "id": "GO:0009636" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010039", "pmid": "20019189", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "response to iron ion", "id": "GO:0010039" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010955", "pmid": "19638633", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "negative regulation of protein processing", "id": "GO:0010955" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "blood vessel remodeling", "id": "GO:0001974" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006977", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest", "id": "GO:0006977" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "blood vessel development", "id": "GO:0001568" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003203", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "endocardial cushion morphogenesis", "id": "GO:0003203" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003281", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "ventricular septum development", "id": "GO:0003281" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003181", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "atrioventricular valve morphogenesis", "id": "GO:0003181" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002027", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "regulation of heart rate", "id": "GO:0002027" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003283", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "atrial septum development", "id": "GO:0003283" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007089", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "traversing start control point of mitotic cell cycle", "id": "GO:0007089" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042493", "pmid": "19136059", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "response to drug", "id": "GO:0042493" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "pmid": "17881359", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "negative regulation of apoptotic process", "id": "GO:0043066" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043154", "pmid": "19850968", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "negative regulation of cysteine-type endopeptidase activity involved in apoptotic process", "id": "GO:0043154" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "pmid": "19103650", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "negative regulation of transcription, DNA-templated", "id": "GO:0045892" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046827", "pmid": "17881359", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "positive regulation of protein export from nucleus", "id": "GO:0046827" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010977", "pmid": "23051735", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "negative regulation of neuron projection development", "id": "GO:0010977" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043278", "pmid": "14625023", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "response to morphine", "id": "GO:0043278" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048545", "pmid": "17000718", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "response to steroid hormone", "id": "GO:0048545" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "pmid": "16091747", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "cellular response to growth factor stimulus", "id": "GO:0071363" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042220", "pmid": "14625023", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "response to cocaine", "id": "GO:0042220" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "pmid": "19638633", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "cellular response to hydrogen peroxide", "id": "GO:0070301" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071312", "pmid": "19136059", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "cellular response to alkaloid", "id": "GO:0071312" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904707", "pmid": "21498419", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "positive regulation of vascular associated smooth muscle cell proliferation", "id": "GO:1904707" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "pmid": "16330492", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "protein ubiquitination", "id": "GO:0016567" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071310", "pmid": "19950214", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "cellular response to organic substance", "id": "GO:0071310" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071375", "pmid": "19850968", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "cellular response to peptide hormone stimulus", "id": "GO:0071375" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071407", "pmid": "19819240", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "cellular response to organic cyclic compound", "id": "GO:0071407" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904754", "pmid": "21498419", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "positive regulation of vascular associated smooth muscle cell migration", "id": "GO:1904754" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071236", "pmid": "18469520", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "cellular response to antibiotic", "id": "GO:0071236" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071391", "pmid": "14667141", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "cellular response to estrogen stimulus", "id": "GO:0071391" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045472", "pmid": "16790648", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "response to ether", "id": "GO:0045472" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032026", "pmid": "15165363", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "response to magnesium ion", "id": "GO:0032026" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071494", "pmid": "14558917", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "cellular response to UV-C", "id": "GO:0071494" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990785", "pmid": "23174211", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "response to water-immersion restraint stress", "id": "GO:1990785" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071301", "pmid": "15656374", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "cellular response to vitamin B1", "id": "GO:0071301" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904404", "pmid": "18045764", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "response to formaldehyde", "id": "GO:1904404" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003170", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "heart valve development", "id": "GO:0003170" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "heart development", "id": "GO:0007507" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045931", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "positive regulation of mitotic cell cycle", "id": "GO:0045931" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990000", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "amyloid fibril formation", "id": "GO:1990000" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "cellular response to hypoxia", "id": "GO:0071456" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045184", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "establishment of protein localization", "id": "GO:0045184" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051149", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "positive regulation of muscle cell differentiation", "id": "GO:0051149" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046677", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "response to antibiotic", "id": "GO:0046677" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "protein localization to nucleus", "id": "GO:0034504" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "positive regulation of cell cycle", "id": "GO:0045787" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "regulation of gene expression", "id": "GO:0010468" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051865", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "protein autoubiquitination", "id": "GO:0051865" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902254", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator", "id": "GO:1902254" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018205", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "peptidyl-lysine modification", "id": "GO:0018205" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "protein destabilization", "id": "GO:0031648" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051603", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "proteolysis involved in cellular protein catabolic process", "id": "GO:0051603" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043518", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "negative regulation of DNA damage response, signal transduction by p53 class mediator", "id": "GO:0043518" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071480", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "cellular response to gamma radiation", "id": "GO:0071480" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060411", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "cardiac septum morphogenesis", "id": "GO:0060411" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042176", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "regulation of protein catabolic process", "id": "GO:0042176" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071157", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "negative regulation of cell cycle arrest", "id": "GO:0071157" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "protein-containing complex assembly", "id": "GO:0065003" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072717", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "cellular response to actinomycin D", "id": "GO:0072717" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901797", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "name": "negative regulation of signal transduction by p53 class mediator", "id": "GO:1901797" } ], "total": 70, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A0A0G2JVC1", "type": "synonym", "resource": "RefSeq", "name": "Mdm2" }, { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "type": "recommended", "resource": "UniProtKB", "name": "Mdm2" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000006304", "id": "ENSRNOG00000006304", "database": "Bgee" }, { "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd16783", "id": "cd16783", "database": "CDD" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/314856", "id": "314856", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR001841", "id": "IPR001841", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR001876", "id": "IPR001876", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR003121", "id": "IPR003121", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR013083", "id": "IPR013083", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR015459", "id": "IPR015459", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR016495", "id": "IPR016495", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR028340", "id": "IPR028340", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR036443", "id": "IPR036443", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR036885", "id": "IPR036885", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR044080", "id": "IPR044080", "database": "InterPro" }, { "url": "https://omabrowser.org/oma/group/ADYWKCS/", "id": "ADYWKCS", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=1329283at2759", "id": "1329283at2759", "database": "OrthoDB" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13844:SF15", "id": "PTHR13844:SF15", "database": "PANTHER" }, { "url": "http://pfam.xfam.org/family/PF00641", "id": "PF00641", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF02201", "id": "PF02201", "database": "Pfam" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-198323", "id": "R-RNO-198323", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-2559580", "id": "R-RNO-2559580", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-2559585", "id": "R-RNO-2559585", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-3232142", "id": "R-RNO-3232142", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-399719", "id": "R-RNO-399719", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5689880", "id": "R-RNO-5689880", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-6804756", "id": "R-RNO-6804756", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-6804757", "id": "R-RNO-6804757", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-6804760", "id": "R-RNO-6804760", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-69541", "id": "R-RNO-69541", "database": "Reactome" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-8941858", "id": "R-RNO-8941858", "database": "Reactome" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006241444.1", "id": "XP_006241444.1", "database": "RefSeq" }, { "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1305332", "id": "1305332", "database": "RGD" }, { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "id": "A0A0G2JVC1", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [], "mutagenesis": [], "disease": [ { "synonyms": [ { "id": "DOID:0050625", "url": "http://disease-ontology.org/term/DOID:0050625", "resource": "Disease Ontology", "name": "extrahepatic bile duct neoplasm", "description": "" }, { "id": "DOID:0050625", "url": "http://disease-ontology.org/term/DOID:0050625", "resource": "Disease Ontology", "name": "neoplasm of extrahepatic bile ducts", "description": "" }, { "id": "DOID:0050625", "url": "http://disease-ontology.org/term/DOID:0050625", "resource": "Disease Ontology", "name": "tumor of the extrahepatic bile duct", "description": "" } ], "recommended_name": { "id": "DOID:0050625", "url": "http://disease-ontology.org/term/DOID:0050625", "resource": "Disease Ontology", "name": "biliary tract benign neoplasm", "description": "A hepatobiliary benign neoplasm located_in the biliary tract." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0050625#disease-associations", "id": "0050625", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "MONDO:0001187", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "name": "bladder cancer", "description": "" }, { "id": "MONDO:0001187", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/11054#disease-associations", "id": "11054", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "DOID:1115", "url": "http://disease-ontology.org/term/DOID:1115", "resource": "Disease Ontology", "name": "connective and soft tissue neoplasm", "description": "" }, { "id": "DOID:1115", "url": "http://disease-ontology.org/term/DOID:1115", "resource": "Disease Ontology", "name": "tumor of soft tissue and skeleton", "description": "" } ], "recommended_name": { "id": "DOID:1115", "url": "http://disease-ontology.org/term/DOID:1115", "resource": "Disease Ontology", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/1115#disease-associations", "id": "1115", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "MONDO:0016419", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "name": "breast cancer, familial Male", "description": "" }, { "id": "MONDO:0016419", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "name": "breast cancer, familial", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "primary breast cancer", "description": "" } ], "recommended_name": { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/1612#disease-associations", "id": "1612", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "DOID:1697", "url": "http://disease-ontology.org/term/DOID:1697", "resource": "Disease Ontology", "name": "ichthyoses", "description": "" }, { "id": "DOID:1697", "url": "http://disease-ontology.org/term/DOID:1697", "resource": "Disease Ontology", "name": "non-syndromic ichthyosis", "description": "" } ], "recommended_name": { "id": "DOID:1697", "url": "http://disease-ontology.org/term/DOID:1697", "resource": "Disease Ontology", "name": "ichthyosis", "description": "A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/1697#disease-associations", "id": "1697", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "DOID:2055", "url": "http://disease-ontology.org/term/DOID:2055", "resource": "Disease Ontology", "name": "traumatic neurosis", "description": "" }, { "id": "DOID:2055", "url": "http://disease-ontology.org/term/DOID:2055", "resource": "Disease Ontology", "name": "PTSD", "description": "" } ], "recommended_name": { "id": "DOID:2055", "url": "http://disease-ontology.org/term/DOID:2055", "resource": "Disease Ontology", "name": "post-traumatic stress disorder", "description": "An anxiety disorder which results from a traumatic experience that results in psychological trauma." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/2055#disease-associations", "id": "2055", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "DOID:224", "url": "http://disease-ontology.org/term/DOID:224", "resource": "Disease Ontology", "name": "TIA", "description": "" }, { "id": "DOID:224", "url": "http://disease-ontology.org/term/DOID:224", "resource": "Disease Ontology", "name": "TIA - Transient ischaemic attack", "description": "" }, { "id": "DOID:224", "url": "http://disease-ontology.org/term/DOID:224", "resource": "Disease Ontology", "name": "TRANSIENT ISCHEMIC ATTACK", "description": "" }, { "id": "DOID:224", "url": "http://disease-ontology.org/term/DOID:224", "resource": "Disease Ontology", "name": "Transient cerebral ischaemia", "description": "" }, { "id": "DOID:224", "url": "http://disease-ontology.org/term/DOID:224", "resource": "Disease Ontology", "name": "Transient ischemic attacks", "description": "" } ], "recommended_name": { "id": "DOID:224", "url": "http://disease-ontology.org/term/DOID:224", "resource": "Disease Ontology", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/224#disease-associations", "id": "224", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "DOID:3068", "url": "http://disease-ontology.org/term/DOID:3068", "resource": "Disease Ontology", "name": "glioblastoma multiforme", "description": "" }, { "id": "DOID:3068", "url": "http://disease-ontology.org/term/DOID:3068", "resource": "Disease Ontology", "name": "GBM", "description": "" }, { "id": "DOID:3068", "url": "http://disease-ontology.org/term/DOID:3068", "resource": "Disease Ontology", "name": "adult glioblastoma multiforme", "description": "" }, { "id": "DOID:3068", "url": "http://disease-ontology.org/term/DOID:3068", "resource": "Disease Ontology", "name": "grade IV adult Astrocytic tumor", "description": "" }, { "id": "DOID:3068", "url": "http://disease-ontology.org/term/DOID:3068", "resource": "Disease Ontology", "name": "primary glioblastoma multiforme", "description": "" }, { "id": "DOID:3068", "url": "http://disease-ontology.org/term/DOID:3068", "resource": "Disease Ontology", "name": "spongioblastoma multiforme", "description": "" } ], "recommended_name": { "id": "DOID:3068", "url": "http://disease-ontology.org/term/DOID:3068", "resource": "Disease Ontology", "name": "glioblastoma", "description": "An astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/3068#disease-associations", "id": "3068", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "DOID:3587", "url": "http://disease-ontology.org/term/DOID:3587", "resource": "Disease Ontology", "name": "malignant neoplasm of duct of Wirsung", "description": "" }, { "id": "DOID:3587", "url": "http://disease-ontology.org/term/DOID:3587", "resource": "Disease Ontology", "name": "pancreatic duct cancer", "description": "" } ], "recommended_name": { "id": "DOID:3587", "url": "http://disease-ontology.org/term/DOID:3587", "resource": "Disease Ontology", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/3587#disease-associations", "id": "3587", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "DOID:3669", "url": "http://disease-ontology.org/term/DOID:3669", "resource": "Disease Ontology", "name": "Charcot's syndrome", "description": "" } ], "recommended_name": { "id": "DOID:3669", "url": "http://disease-ontology.org/term/DOID:3669", "resource": "Disease Ontology", "name": "intermittent claudication", "description": "" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/3669#disease-associations", "id": "3669", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "DOID:409", "url": "http://disease-ontology.org/term/DOID:409", "resource": "Disease Ontology", "name": "disorder of liver", "description": "" }, { "id": "DOID:409", "url": "http://disease-ontology.org/term/DOID:409", "resource": "Disease Ontology", "name": "hepatic disorder", "description": "" } ], "recommended_name": { "id": "DOID:409", "url": "http://disease-ontology.org/term/DOID:409", "resource": "Disease Ontology", "name": "liver disease", "description": "" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/409#disease-associations", "id": "409", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "DOID:4947", "url": "http://disease-ontology.org/term/DOID:4947", "resource": "Disease Ontology", "name": "adult primary Cholangiocarcinoma", "description": "" }, { "id": "DOID:4947", "url": "http://disease-ontology.org/term/DOID:4947", "resource": "Disease Ontology", "name": "adult primary cholangiocellular carcinoma", "description": "" }, { "id": "DOID:4947", "url": "http://disease-ontology.org/term/DOID:4947", "resource": "Disease Ontology", "name": "cholangiosarcoma", "description": "" } ], "recommended_name": { "id": "DOID:4947", "url": "http://disease-ontology.org/term/DOID:4947", "resource": "Disease Ontology", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/4947#disease-associations", "id": "4947", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "MONDO:0008185", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "resource": "MONDO", "name": "hereditary chronic pancreatitis", "description": "" }, { "id": "MONDO:0008185", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "resource": "MONDO", "name": "PCTT", "description": "" }, { "id": "MONDO:0008185", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "resource": "MONDO", "name": "pancreatitis, chronic, protection against", "description": "" }, { "id": "MONDO:0008185", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "resource": "MONDO", "name": "HPC", "description": "" }, { "id": "MONDO:0008185", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "resource": "MONDO", "name": "autosomal dominant hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "resource": "MONDO", "name": "pancreatitis, chronic pancreatitis, chronic, susceptibility to, included", "description": "" }, { "id": "MONDO:0008185", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "resource": "MONDO", "name": "Hp", "description": "" }, { "id": "MONDO:0008185", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "resource": "MONDO", "name": "pancreatitis, chronic, susceptibility to", "description": "" }, { "id": "MONDO:0008185", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "resource": "MONDO", "name": "pancreatitis, hereditary", "description": "" }, { "id": "MONDO:0008185", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "resource": "MONDO", "name": "hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "resource": "MONDO", "name": "pancreatitis, hereditary; PCTT", "description": "" }, { "id": "MONDO:0008185", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "resource": "MONDO", "name": "familial pancreatitis", "description": "" }, { "id": "MONDO:0008185", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "resource": "MONDO", "name": "pancreatitis, calcific, included", "description": "" }, { "id": "MONDO:0008185", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "resource": "MONDO", "name": "pancreatitis, chronic, protection against, included", "description": "" }, { "id": "MONDO:0008185", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "resource": "MONDO", "name": "pancreatitis, calcific", "description": "" }, { "id": "MONDO:0008185", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "resource": "MONDO", "name": "pancreatitis, chronic", "description": "" } ], "recommended_name": { "id": "DOID:4989", "url": "http://disease-ontology.org/term/DOID:4989", "resource": "Disease Ontology", "name": "pancreatitis", "description": "" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/4989#disease-associations", "id": "4989", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "MONDO:0007256", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "resource": "MONDO", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "resource": "MONDO", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "resource": "MONDO", "name": "liver cancer", "description": "" }, { "id": "MONDO:0007256", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "resource": "MONDO", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "resource": "MONDO", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "resource": "MONDO", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "resource": "MONDO", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "resource": "MONDO", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "resource": "MONDO", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "resource": "MONDO", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "resource": "MONDO", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "resource": "MONDO", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "resource": "MONDO", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "resource": "MONDO", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "resource": "MONDO", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "resource": "MONDO", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "resource": "MONDO", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "resource": "MONDO", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "resource": "MONDO", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "resource": "MONDO", "name": "adult hepatoma", "description": "" }, { "id": "DOID:684", "url": "http://disease-ontology.org/term/DOID:684", "resource": "Disease Ontology", "name": "Hepatoma", "description": "" } ], "recommended_name": { "id": "DOID:684", "url": "http://disease-ontology.org/term/DOID:684", "resource": "Disease Ontology", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/684#disease-associations", "id": "684", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "MONDO:0011996", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "resource": "MONDO", "name": "chronic myelogenous leukemia, BCR-ABL1 positive", "description": "" }, { "id": "MONDO:0011996", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "resource": "MONDO", "name": "chronic granulocytic leukemia", "description": "" }, { "id": "MONDO:0011996", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "resource": "MONDO", "name": "myeloid leukemia, chronic", "description": "" }, { "id": "MONDO:0011996", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "resource": "MONDO", "name": "chronic myelocytic leukemia", "description": "" }, { "id": "MONDO:0011996", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "resource": "MONDO", "name": "leukemia, chronic myeloid", "description": "" }, { "id": "MONDO:0011996", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "resource": "MONDO", "name": "CML - chronic myelogenous leukemia", "description": "" }, { "id": "MONDO:0011996", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "resource": "MONDO", "name": "leukemia, chronic myeloid; CML", "description": "" }, { "id": "MONDO:0011996", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "resource": "MONDO", "name": "BCR-ABL Positive chronic myelogenous leukemia", "description": "" }, { "id": "MONDO:0011996", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "resource": "MONDO", "name": "hematopoeitic - chronic myelocytic leukemia (CML)", "description": "" }, { "id": "MONDO:0011996", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "resource": "MONDO", "name": "chronic myelogenous leukemias", "description": "" }, { "id": "MONDO:0011996", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "resource": "MONDO", "name": "CML", "description": "" }, { "id": "MONDO:0011996", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "resource": "MONDO", "name": "leukemia, chronic myeloid, atypical", "description": "" }, { "id": "MONDO:0011996", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "resource": "MONDO", "name": "leukemia, chronic myelogenous", "description": "" }, { "id": "MONDO:0011996", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "resource": "MONDO", "name": "chronic myelogenous leukemia (CML)", "description": "" }, { "id": "MONDO:0011996", "url": "https://monarchinitiative.org/disease/MONDO:0011996", "resource": "MONDO", "name": "chronic myelogenous leukemia", "description": "" }, { "id": "DOID:8552", "url": "http://disease-ontology.org/term/DOID:8552", "resource": "Disease Ontology", "name": "CML", "description": "" }, { "id": "DOID:8552", "url": "http://disease-ontology.org/term/DOID:8552", "resource": "Disease Ontology", "name": "CML - chronic Myelogenous Leukemia", "description": "" }, { "id": "DOID:8552", "url": "http://disease-ontology.org/term/DOID:8552", "resource": "Disease Ontology", "name": "Myeloid Leukemia, chronic", "description": "" }, { "id": "DOID:8552", "url": "http://disease-ontology.org/term/DOID:8552", "resource": "Disease Ontology", "name": "chronic granulocytic leukaemia", "description": "" }, { "id": "DOID:8552", "url": "http://disease-ontology.org/term/DOID:8552", "resource": "Disease Ontology", "name": "chronic granulocytic leukemia", "description": "" }, { "id": "DOID:8552", "url": "http://disease-ontology.org/term/DOID:8552", "resource": "Disease Ontology", "name": "chronic myelogenous leukaemia", "description": "" }, { "id": "DOID:8552", "url": "http://disease-ontology.org/term/DOID:8552", "resource": "Disease Ontology", "name": "chronic myelogenous leukemia", "description": "" }, { "id": "DOID:8552", "url": "http://disease-ontology.org/term/DOID:8552", "resource": "Disease Ontology", "name": "chronic myeloid leukaemia", "description": "" } ], "recommended_name": { "id": "DOID:8552", "url": "http://disease-ontology.org/term/DOID:8552", "resource": "Disease Ontology", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/8552#disease-associations", "id": "8552", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "MONDO:0018874", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "resource": "MONDO", "name": "leukemia, acute myeloid", "description": "" }, { "id": "MONDO:0018874", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "resource": "MONDO", "name": "acute myelogenous leukemias", "description": "" }, { "id": "MONDO:0018874", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "resource": "MONDO", "name": "acute Nonlymphocytic leukemia", "description": "" }, { "id": "MONDO:0018874", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "resource": "MONDO", "name": "AML", "description": "" }, { "id": "MONDO:0018874", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "resource": "MONDO", "name": "myeloid leukemia, acute", "description": "" }, { "id": "MONDO:0018874", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "resource": "MONDO", "name": "acute myelogenous leukemia", "description": "" }, { "id": "MONDO:0018874", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "resource": "MONDO", "name": "ANLL", "description": "" }, { "id": "MONDO:0018874", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "resource": "MONDO", "name": "acute granulocytic leukemia", "description": "" }, { "id": "MONDO:0018874", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "resource": "MONDO", "name": "leukemia, acute myelogenous", "description": "" }, { "id": "MONDO:0018874", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "resource": "MONDO", "name": "acute myeloblastic leukemia", "description": "" }, { "id": "MONDO:0018874", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "resource": "MONDO", "name": "hematopoeitic - acute Myleogenous leukemia (AML)", "description": "" }, { "id": "MONDO:0018874", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "resource": "MONDO", "name": "leukemia, myelocytic, acute", "description": "" }, { "id": "MONDO:0018874", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "resource": "MONDO", "name": "acute myelocytic leukemia", "description": "" }, { "id": "MONDO:0018874", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "resource": "MONDO", "name": "leukemia, acute myeloid, susceptibility to", "description": "" }, { "id": "MONDO:0018874", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "resource": "MONDO", "name": "acute myeloid leukemia (AML)", "description": "" }, { "id": "MONDO:0018874", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "resource": "MONDO", "name": "leukemia, acute myeloid; AML", "description": "" }, { "id": "MONDO:0018874", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "resource": "MONDO", "name": "AML - acute myeloid leukemia", "description": "" }, { "id": "MONDO:0018874", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "resource": "MONDO", "name": "acute non lymphoblastic leukemia", "description": "" }, { "id": "DOID:9119", "url": "http://disease-ontology.org/term/DOID:9119", "resource": "Disease Ontology", "name": "AML - acute Myeloid Leukemia", "description": "" }, { "id": "DOID:9119", "url": "http://disease-ontology.org/term/DOID:9119", "resource": "Disease Ontology", "name": "Leukemia, Myelocytic, acute", "description": "" }, { "id": "DOID:9119", "url": "http://disease-ontology.org/term/DOID:9119", "resource": "Disease Ontology", "name": "acute myeloblastic leukaemia", "description": "" }, { "id": "DOID:9119", "url": "http://disease-ontology.org/term/DOID:9119", "resource": "Disease Ontology", "name": "acute myeloblastic leukemia", "description": "" }, { "id": "DOID:9119", "url": "http://disease-ontology.org/term/DOID:9119", "resource": "Disease Ontology", "name": "acute myelogenous leukaemia", "description": "" }, { "id": "DOID:9119", "url": "http://disease-ontology.org/term/DOID:9119", "resource": "Disease Ontology", "name": "acute myelogenous leukemia", "description": "" }, { "id": "DOID:9119", "url": "http://disease-ontology.org/term/DOID:9119", "resource": "Disease Ontology", "name": "acute myeloid leukaemia", "description": "" } ], "recommended_name": { "id": "DOID:9119", "url": "http://disease-ontology.org/term/DOID:9119", "resource": "Disease Ontology", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/9119#disease-associations", "id": "9119", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "DOID:9286", "url": "http://disease-ontology.org/term/DOID:9286", "resource": "Disease Ontology", "name": "Mentulagra", "description": "" } ], "recommended_name": { "id": "DOID:9286", "url": "http://disease-ontology.org/term/DOID:9286", "resource": "Disease Ontology", "name": "priapism", "description": "A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/9286#disease-associations", "id": "9286", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [], "mass": { "monoisotopic_mass": 53902.0, "chemical_mass": 53902.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1", "name": "Mdm2", "locus": { "end_pos": 60719066, "strand": "-", "start_pos": 60743328, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOG00000006304", "id": "ENSRNOG00000006304", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "2.3.2.27" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0A0G2JVC1", "type": "synonym", "resource": "RefSeq", "name": "E3 ubiquitin-protein ligase Mdm2 isoform X2" }, { "url": "https://www.uniprot.org/uniprot/A0A0G2JVC1#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "E3 ubiquitin-protein ligase Mdm2" } ] }