{ "uniprot_canonical_ac": "P40791-1", "uniprot_ac": "P40791", "uniprot_id": "MEF2_DROME", "mass": { "chemical_mass": 57172.0, "monoisotopic_mass": 57172.0 }, "refseq": { "ac": "NP_477018", "name": "myocyte enhancer factor 2, isoform C", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_477018" }, "gene_names": [ { "name": "Mef2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "22.21; BEST:SD04091; C; CG1429; D-mef2; D-Mef2; D-MEF2; DMedf2; Dmef; Dmef-2; DMef-2; DMEF-2; dmef2; dMef2; dMEf2; dMEF2; Dmef2; DMef2; DMEF2; Dmel\\CG1429; l(2)46CFr; mb247; mef; Mef; mef-2; Mef-2; MEF-2; mef2; MEF2; mef2c; SD04091", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_477018", "id": "NP_477018" }, { "name": "22.21", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "BEST:SD04091", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "CG1429", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "C", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "D-MEF2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "D-Mef2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "D-mef2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "DMEF-2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "DMEF2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "DMedf2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "DMef-2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "DMef2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "Dmef-2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "Dmef2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "Dmef", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "Dmel\\CG1429", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "Dmel_CG1429", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "MEF-2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "MEF2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "Mef-2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "Mef2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_477018", "id": "NP_477018" }, { "name": "Mef", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "SD04091", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "dMEF2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "dMEf2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "dMef2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "dmef2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "l(2)46CFr", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "mb247", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "mef-2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "mef2c", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "mef2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" }, { "name": "mef", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P40791", "id": "P40791" } ], "protein_names": [ { "name": "Myocyte-specific enhancer factor 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P40791" }, { "name": "CG1429-PC; Mef2-PC; complementation group C; myocyte enhancer factor-2; myocyte enhancing factor 2; Myocyte-enhancer factor 2; myocyte-specific enhancer factor 2; Myocyte-enhancer factor-2; drosophila myocyte-specific enhancer factor 2; DMEF2; Drosophila-myocyte enhancer factor 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_477018", "id": "NP_477018" }, { "name": "CG1429-PG; Mef2-PG; complementation group C; myocyte enhancer factor-2; myocyte enhancing factor 2; Myocyte-enhancer factor 2; myocyte-specific enhancer factor 2; Myocyte-enhancer factor-2; drosophila myocyte-specific enhancer factor 2; DMEF2; Drosophila-myocyte enhancer factor 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001260841", "id": "NP_001260841" }, { "name": "CG1429-PH; Mef2-PH; complementation group C; myocyte enhancer factor-2; myocyte enhancing factor 2; Myocyte-enhancer factor 2; myocyte-specific enhancer factor 2; Myocyte-enhancer factor-2; drosophila myocyte-specific enhancer factor 2; DMEF2; Drosophila-myocyte enhancer factor 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001260842", "id": "NP_001260842" }, { "name": "D-mef2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P40791" }, { "name": "MADS domain transcription factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P40791" }, { "name": "myocyte enhancer factor 2, isoform C", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_477018", "id": "NP_477018" }, { "name": "myocyte enhancer factor 2, isoform G", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001260841", "id": "NP_001260841" }, { "name": "myocyte enhancer factor 2, isoform H", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001260842", "id": "NP_001260842" } ], "function": [ { "annotation": "Transcription factor that could be a key player in early mesoderm differentiation and may be required for subsequent cell fate specifications within the somatic and visceral/heart mesodermal layers (PubMed:7839146, PubMed:8052612, PubMed:8202544). Essential for myoblast fusion and consequently muscle formation in adults (PubMed:25797154). During embryonic and pupal development, binds to the enhancer of the myoblast fusion gene sing and activates its transcription (PubMed:25797154).", "evidence": [ { "database": "UniProtKB", "id": "P40791", "url": "https://www.uniprot.org/uniprot/P40791#function" }, { "database": "PubMed", "id": "8202544", "url": "https://glygen.org/publication/PubMed/8202544" }, { "database": "PubMed", "id": "25797154", "url": "https://glygen.org/publication/PubMed/25797154" }, { "database": "PubMed", "id": "7839146", "url": "https://glygen.org/publication/PubMed/7839146" }, { "database": "PubMed", "id": "8052612", "url": "https://glygen.org/publication/PubMed/8052612" } ] } ], "disease": [ { "disease_id": "DOID:0060041", "recommended_name": { "id": "DOID:0060041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior." }, "synonyms": [], "evidence": [ { "id": "0060041", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "disease_id": "DOID:0070050", "recommended_name": { "id": "DOID:0070050", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070050", "name": "neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language", "description": "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities and that has_material_basis_in an autosomal dominant mutation of the MEF2C gene on chromosome 5q14.3." }, "synonyms": [ { "id": "DOID:0070050", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070050", "name": "autosomal dominant mental retardation 20", "description": "" }, { "id": "DOID:0070050", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070050", "name": "MRD20", "description": "" }, { "id": "DOID:0070050", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070050", "name": "mental retardation, autosomal dominant 20", "description": "" }, { "id": "MONDO:0013266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013266", "name": "intellectual disability, autosomal dominant 20", "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene." }, { "id": "MONDO:0013266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013266", "name": "MEF2C autosomal dominant non-syndromic intellectual disability", "description": "" }, { "id": "MONDO:0013266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013266", "name": "MRD20", "description": "" }, { "id": "MONDO:0013266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013266", "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in MEF2C", "description": "" }, { "id": "MONDO:0013266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013266", "name": "chromosome 5q14.3 deletion syndrome", "description": "" }, { "id": "MONDO:0013266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013266", "name": "intellectual disability, autosomal dominant 20", "description": "" }, { "id": "MONDO:0013266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013266", "name": "intellectual disability, autosomal dominant type 20", "description": "" }, { "id": "MONDO:0013266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013266", "name": "mental retardation, autosomal dominant 20", "description": "" }, { "id": "MONDO:0013266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013266", "name": "mental retardation, autosomal dominant type 20", "description": "" }, { "id": "MONDO:0013266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013266", "name": "neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language", "description": "" }, { "id": "MONDO:0013266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013266", "name": "autosomal dominant intellectual disability 20", "description": "" }, { "id": "MONDO:0013266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013266", "name": "autosomal dominant mental retardation 20", "description": "" }, { "id": "MONDO:0013266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013266", "name": "chromosome 5Q14.3 deletion syndrome, proximal", "description": "" }, { "id": "MONDO:0013266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013266", "name": "intellectual disability, stereotypic movements, epilepsy, and/or cerebral malformations", "description": "" }, { "id": "MONDO:0013266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013266", "name": "mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations", "description": "" }, { "id": "MIM:613443", "resource": "MIM", "url": "https://www.omim.org/entry/613443", "name": "Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language", "description": "Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language" } ], "evidence": [ { "id": "0070050", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0070050" } ] }, { "disease_id": "DOID:1059", "recommended_name": { "id": "DOID:1059", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills." }, "synonyms": [], "evidence": [ { "id": "1059", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ] }, { "disease_id": "DOID:1094", "recommended_name": { "id": "DOID:1094", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age." }, "synonyms": [ { "id": "DOID:1094", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1094", "name": "ADHD", "description": "" }, { "id": "DOID:1094", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1094", "name": "attention deficit disorder", "description": "" }, { "id": "DOID:1094", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1094", "name": "hyperkinetic disorder", "description": "" }, { "id": "MONDO:0012151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012151", "name": "attention deficit-hyperactivity disorder, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012151", "name": "ADHD3", "description": "" }, { "id": "MONDO:0012151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012151", "name": "attention Deficit-hyperactivity disorder, susceptibility to, type 3", "description": "" }, { "id": "MONDO:0012151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012151", "name": "attention deficit-hyperactivity disorder, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012150", "name": "attention deficit-hyperactivity disorder, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012150", "name": "ADHD2", "description": "" }, { "id": "MONDO:0012150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012150", "name": "attention Deficit-hyperactivity disorder, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0012150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012150", "name": "attention deficit-hyperactivity disorder, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012149", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012149", "name": "attention deficit-hyperactivity disorder, susceptibility to, 1", "description": "" }, { "id": "MONDO:0012149", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012149", "name": "ADHD1", "description": "" }, { "id": "MONDO:0012149", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012149", "name": "attention deficit-hyperactivity disorder, susceptibility to, 1", "description": "" }, { "id": "MONDO:0012149", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012149", "name": "attention deficit-hyperactivity disorder, susceptibility to, type 1", "description": "" }, { "id": "MONDO:0012152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012152", "name": "attention deficit-hyperactivity disorder, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012152", "name": "ADHD4", "description": "" }, { "id": "MONDO:0012152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012152", "name": "attention Deficit-hyperactivity disorder, susceptibility to, type 4", "description": "" }, { "id": "MONDO:0012152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012152", "name": "attention deficit-hyperactivity disorder, susceptibility to, 4", "description": "" }, { "id": "MONDO:0100518", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100518", "name": "hereditary attention deficit-hyperactivity disorder", "description": "An instance of attention deficit-hyperactivity disorder that is caused by an inherited genomic modification in an individual." }, { "id": "MONDO:0012863", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012863", "name": "attention deficit-hyperactivity disorder, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012863", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012863", "name": "ADHD6", "description": "" }, { "id": "MONDO:0012863", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012863", "name": "attention Deficit-hyperactivity disorder, susceptibility to, type 6", "description": "" }, { "id": "MONDO:0012863", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012863", "name": "attention deficit-hyperactivity disorder, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012863", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012863", "name": "digit span quantitative trait locus", "description": "" }, { "id": "MONDO:0012862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012862", "name": "attention deficit-hyperactivity disorder, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012862", "name": "ADHD5", "description": "" }, { "id": "MONDO:0012862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012862", "name": "attention Deficit-hyperactivity disorder, susceptibility to, type 5", "description": "" }, { "id": "MONDO:0012862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012862", "name": "attention deficit-hyperactivity disorder, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012862", "name": "motor timing quantitative trait locus", "description": "" } ], "evidence": [ { "id": "1094", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ] }, { "disease_id": "DOID:12930", "recommended_name": { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." }, "synonyms": [ { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "primary dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, congestive", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, familial idiopathic", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, idiopathic dilated", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "evidence": [ { "id": "12930", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "evidence": [ { "id": "1324", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:1824", "recommended_name": { "id": "DOID:1824", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1824", "name": "status epilepticus", "description": "" }, "synonyms": [ { "id": "DOID:1824", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1824", "name": "Grand mal status", "description": "" } ], "evidence": [ { "id": "1824", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ] }, { "disease_id": "DOID:5844", "recommended_name": { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia." }, "synonyms": [ { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "Myocardial infarct", "description": "" }, { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "heart attack", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "Mci2", "description": "" } ], "evidence": [ { "id": "5844", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P40791", "url": "https://www.uniprot.org/uniprot/P40791" } ], "common_name": "Fruit fly" } ], "gene": [ { "name": "Mef2", "url": "https://www.uniprot.org/uniprot/P40791", "locus": { "chromosome": "2R", "start_pos": 9913496, "end_pos": 9958858, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "FBgn0011656", "url": "https://www.ensembl.org/id/FBgn0011656" } ] } } ], "crossref": [ { "id": "FBgn0011656", "url": "https://bgee.org/?page=gene&gene_id=FBgn0011656", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd00265", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00265", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "FBgn0011656", "url": "https://flybase.org/reports/FBgn0011656", "database": "FlyBase", "categories": [ "Organism-specific" ] }, { "id": "36032", "url": "https://www.ncbi.nlm.nih.gov/gene/36032", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "P40791", "url": "https://www.ebi.ac.uk/intact/interactors/id:P40791*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002100", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002100", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR022102", "url": "https://www.ebi.ac.uk/interpro/entry/IPR022102", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR033896", "url": "https://www.ebi.ac.uk/interpro/entry/IPR033896", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036879", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036879", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "dme:Dmel_CG1429", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG1429", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "MATNSYS", "url": "https://omabrowser.org/oma/group/MATNSYS/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "448298at2759", "url": "http://www.orthodb.org/?query=448298at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11945", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11945", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11945:SF534", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11945:SF534", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR48019", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR48019", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR48019:SF93", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR48019:SF93", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00319", "url": "http://pfam.xfam.org/family/PF00319", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF10462", "url": "http://pfam.xfam.org/family/PF10462", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12347", "url": "http://pfam.xfam.org/family/PF12347", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P40791", "url": "http://purl.obolibrary.org/obo/PR_P40791", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-DME-525793", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-525793", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_477018", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_477018", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0B4KEP4", "url": "https://www.uniprot.org/uniprot/A0A0B4KEP4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0B4KEP4-1", "url": "https://www.uniprot.org/uniprot/A0A0B4KEP4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0B4KFI1", "url": "https://www.uniprot.org/uniprot/A0A0B4KFI1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0B4KFI1-1", "url": "https://www.uniprot.org/uniprot/A0A0B4KFI1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6M3Q705", "url": "https://www.uniprot.org/uniprot/A0A6M3Q705", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6M3Q705-1", "url": "https://www.uniprot.org/uniprot/A0A6M3Q705-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6M3Q797", "url": "https://www.uniprot.org/uniprot/A0A6M3Q797", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6M3Q797-1", "url": "https://www.uniprot.org/uniprot/A0A6M3Q797-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6M3Q823", "url": "https://www.uniprot.org/uniprot/A0A6M3Q823", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6M3Q823-1", "url": "https://www.uniprot.org/uniprot/A0A6M3Q823-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6M3QA49", "url": "https://www.uniprot.org/uniprot/A0A6M3QA49", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6M3QA49-1", "url": "https://www.uniprot.org/uniprot/A0A6M3QA49-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P40791", "url": "https://www.uniprot.org/uniprot/P40791", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P40791-1", "url": "https://www.uniprot.org/uniprot/P40791-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P40791-2", "url": "https://www.uniprot.org/uniprot/P40791-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P40791-3", "url": "https://www.uniprot.org/uniprot/P40791-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P40791-4", "url": "https://www.uniprot.org/uniprot/P40791-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P40791-6", "url": "https://www.uniprot.org/uniprot/P40791-6", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGRKKIQISRITDERNRQVTFNKRKFGVMKKAYELSVLCDCEIALIIFSSSNKLYQYASTDMDRVLLKYTEYNEPHESLTNKNIIEKENKNGVMSPDSPEAETDYTLTPRTEAKYNKIDEEFQNMMQRNQMAIGGAGAPRQLPNSSYTLPVSVPVPGSYGDNLLQASPQMSHTNISPRPSSSETDSGGMSLIIYPSGSMLEMSNGYPHSHSPLVGSPSPGPSPGIAHHLSIKQQSPGSQNGRASNLRVVIPPTIAPIPPNMSAPDDVGYADQRQSQTSLNTPVVTLQTPIPALTSYSFGAQDFSSSGVMNSADIMSLNTWHQGLVPHSSLSHLAVSNSTPPPATSPVSIKVKAEPQSPPRDLSASGHQQNSNGSTGSGGSSSSTSSNASGGAGGGGAVSAANVITHLNNVSVLAGGPSGQGGGGGGGGSNGNVEQATNLSVLSHAQQHHLGMPNSRPSSTGHITPTPGHDKYEGYPYRALMGHNPRWNLNFAGAPSSDQDVRLAAVAVQQQQQQPHQQQQLGDYDAPNHKRPRISGGWGT", "length": 540, "header": "sp|P40791-1|MEF2_DROME Isoform 1 of Myocyte-specific enhancer factor 2 OS=Drosophila melanogaster OX=7227 GN=Mef2 PE=1 SV=3 CANONICAL=P40791-1" }, "isoforms": [ { "isoform_ac": "A0A0B4KEP4-1", "url": "", "sequence": { "sequence": "MGRKKIQISRITDERNRQVTFNKRKFGVMKKAYELSVLCDCEIALIIFSSSNKLYQYASTDMDRVLLKYTEYNEPHESLTNKNIIEKENKNGVMSPDSPEAETDYTLTPRTEAKYNKIDEEFQNMMQRNQMAIGGAGAPRQLPNSSYTLPVSVPVPGSYGDNLLQASPQMSHTNISPRPSSSETDSGGMSLITHHLSIKQQSPGSQNGRASNLRVVIPPTIAPIPPNMSAPDDVGYADSQTSLNTPVVTLQTPIPALTSYSFGAQDFSSSGVMNSADIMSLNTWHQGLVPHSSLSHLAVSNSTPPPATSPVSIKVKAEPQSPPRDLSASGHQQNSNGSTGSGGSSSSTSSNASGGAGGGGAVSAANVITHLNNVSVLAGGPSGQGGGGGGGGSNGNVEQATNLSVLSHAQQHHLGMPNSRPSSTGHITPTPGHDKYEGYPYRALMGHNPRWNLNFADFIILNAGAPSSDQDVRLAAVAVQQQQQQPHQQQQLGDYDAPNHKRPRISGGWGT", "length": 511, "header": "tr|A0A0B4KEP4-1|A0A0B4KEP4_DROME Computationally mapped isoform of Myocyte enhancer factor 2, isoform G OS=Drosophila melanogaster OX=7227 GN=Mef2 PE=4 SV=1 CANONICAL=P40791-1" }, "locus": { "chromosome": "2R", "start_pos": 9921663, "end_pos": 9916749, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0330707", "url": "https://www.ensembl.org/id/FBtr0330707" }, { "database": "Ensembl Peptide", "id": "FBpp0303550", "url": "https://www.ensembl.org/id/FBpp0303550" } ] } }, { "isoform_ac": "A0A0B4KFI1-1", "url": "", "sequence": { "sequence": "MGRKKIQISRITDERNRQVTFNKRKFGVMKKAYELSVLCDCEIALIIFSSSNKLYQYASTDMDRVLLKYTEYNEPHESLTNKNIIEKENKNGVMSPDSPEAETDYTLTPRTEAKYNKIDEEFQNMMQRNQMAIGGAGAPRQLPNSSYTLPVSVPVPGSYGDNLLQASPQMSHTNISPRPSSSETDSVYPSGSMLEMSNGYPHSHSPLVGSPSPGPSPGIAHHLSIKQQSPGSQNGRASNLRVVIPPTIAPIPPNMSAPDDVGYADQRQSQTSLNTPVVTLQTPIPALTSYSFGAQDFSSSGVMNSADIMSLNTWHQGLVPHSSLSHLAVSNSTPPPATSPVSIKVKAEPQSPPRDLSASGHQQNSNGSTGSGGSSSSTSSNASGGAGGGGAVSAANVITHLNNVSVLAGGPSGQGGGGGGGGSNGNVEQATNLSVLSHAQQHHLGMPNSRPSSTGHITPTPGAPSSDQDVRLAAVAVQQQQQQPHQQQQLGDYDAPNHKRPRISGGWGTXPARAAGSSHYKPHHNNNTGCSSINGSNTSCSTNNTITSSSNSSSSSNKKPAECDDLVMMPPPPRKDIGRSSYSLLQSGYDCYGQQLAVAYGAQQHP", "length": 606, "header": "tr|A0A0B4KFI1-1|A0A0B4KFI1_DROME Computationally mapped isoform of Myocyte enhancer factor 2, isoform H OS=Drosophila melanogaster OX=7227 GN=Mef2 PE=4 SV=1 CANONICAL=P40791-1" }, "locus": { "chromosome": "2R", "start_pos": 9921663, "end_pos": 9916458, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0330708", "url": "https://www.ensembl.org/id/FBtr0330708" }, { "database": "Ensembl Peptide", "id": "FBpp0303551", "url": "https://www.ensembl.org/id/FBpp0303551" } ] } }, { "isoform_ac": "A0A6M3Q705-1", "url": "", "sequence": { "sequence": "MGRKKIQISRITDERNRQVTFNKRKFGVMKKAYELSVLCDCEIALIIFSSSNKLYQYASTDMDRVLLKYTEYNEPHESLTNKNIIEKENKNGVMSPDSPEAETDYTLTPRTEAKYNKIDEEFQNMMQRNQMAIGGAGAPRQLPNSSYTLPVSVPVPGSYGDNLLQASPQMSHTNISPRPSSSETDSGGMSLITHHLSIKQQSPGSQNGRASNLRVVIPPTIAPIPPNMSAPDDVGYADQRQSQTSLNTPVVTLQTPIPALTSYSFGAQDFSSSGVMNSADIMSLNTWHQGLVPHSSLSHLAVSNSTPPPATSPVSIKVKAEPQSPPRDLSASGHQQNSNGSTGSGGSSSSTSSNASGGAGGGGAVSAANVITHLNNVSVLAGGPSGQGGGGGGGGSNGNVEQATNLSVLSHAQQHHLGMPNSRPSSTGHITPTPGAPSSDQDVRLAAVAVQQQQQQPHQQQQLGDYDAPNHKRPRISGGWGT", "length": 482, "header": "tr|A0A6M3Q705-1|A0A6M3Q705_DROME Computationally mapped isoform of Myocyte enhancer factor 2, isoform K OS=Drosophila melanogaster OX=7227 GN=Mef2 PE=4 SV=1 CANONICAL=P40791-1" }, "locus": { "chromosome": "2R", "start_pos": 9921663, "end_pos": 9916749, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0479643", "url": "https://www.ensembl.org/id/FBtr0479643" }, { "database": "Ensembl Peptide", "id": "FBpp0424320", "url": "https://www.ensembl.org/id/FBpp0424320" } ] } }, { "isoform_ac": "A0A6M3Q797-1", "url": "", "sequence": { "sequence": "MGRKKIQISRITDERNRQVTFNKRKFGVMKKAYELSVLCDCEIALIIFSSSNKLYQYASTDMDRVLLKYTEYNEPHESLTNKNIIEKENKNGVMSPDSPEAETDYTLTPRTEAKYNKIDEEFQNMMQRNQMAIGGAGAPRQLPNSSYTLPVSVPVPGSYGDNLLQASPQMSHTNISPRPSSSETDSAHHLSIKQQSPGSQNGRASNLRVVIPPTIAPIPPNMSAPDDVGYADQRQSQTSLNTPVVTLQTPIPALTSYSFGAQDFSSSGVMNSADIMSLNTWHQGLVPHSSLSHLAVSNSTPPPATSPVSIKVKAEPQSPPRDLSASGHQQNSNGSTGSGGSSSSTSSNASGGAGGGGAVSAANVITHLNNVSVLAGGPSGQGGGGGGGGSNGNVEQATNLSVLSHAQQHHLGMPNSRPSSTGHITPTPGAPSSDQDVRLAAVAVQQQQQQPHQQQQLGDYDAPNHKRPRISGGWGT", "length": 476, "header": "tr|A0A6M3Q797-1|A0A6M3Q797_DROME Computationally mapped isoform of Myocyte enhancer factor 2, isoform I OS=Drosophila melanogaster OX=7227 GN=Mef2 PE=4 SV=1 CANONICAL=P40791-1" }, "locus": { "chromosome": "2R", "start_pos": 9921663, "end_pos": 9916749, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0479641", "url": "https://www.ensembl.org/id/FBtr0479641" }, { "database": "Ensembl Peptide", "id": "FBpp0424318", "url": "https://www.ensembl.org/id/FBpp0424318" } ] } }, { "isoform_ac": "A0A6M3Q823-1", "url": "", "sequence": { "sequence": "MGRKKIQISRITDERNRQVTFNKRKFGVMKKAYELSVLCDCEIALIIFSSSNKLYQYASTDMDRVLLKYTEYNEPHESLTNKNIIEKENKNGVMSPDSPEAETDYTLTPRTEAKYNKIDEEFQNMMQRNQMAIGGAGAPRQLPNSSYTLPVSVPVPGSYGDNLLQASPQMSHTNISPRPSSSETDSGGMSLIIYPSGSMLEMSNGYPHSHSPLVGSPSPGPSPGIAHHLSIKQQSPGSQNGRASNLRVVIPPTIAPIPPNMSAPDDVGYADQRQSQTSLNTPVVTLQTPIPALTSYSFGAQDFSSSGVMNSADIMSLNTWHQGLVPHSSLSHLAVSNSTPPPATSPVSIKVKAEPQSPPRDLSASGHQQNSNGSTGSGGSSSSTSSNASGGAGGGGAVSAANVITHLNNVSVLAGGPSGQGGGGGGGGSNGNVEQATNLSVLSHAQQHHLGMPNSRPSSTGHITPTPDFIILNAGAPSSDQDVRLAAVAVQQQQQQPHQQQQLGDYDAPNHKRPRISGGWGT", "length": 522, "header": "tr|A0A6M3Q823-1|A0A6M3Q823_DROME Computationally mapped isoform of Myocyte enhancer factor 2, isoform L OS=Drosophila melanogaster OX=7227 GN=Mef2 PE=4 SV=1 CANONICAL=P40791-1" }, "locus": { "chromosome": "2R", "start_pos": 9921663, "end_pos": 9916749, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0479644", "url": "https://www.ensembl.org/id/FBtr0479644" }, { "database": "Ensembl Peptide", "id": "FBpp0424321", "url": "https://www.ensembl.org/id/FBpp0424321" } ] } }, { "isoform_ac": "A0A6M3QA49-1", "url": "", "sequence": { "sequence": "MGRKKIQISRITDERNRQVTFNKRKFGVMKKAYELSVLCDCEIALIIFSSSNKLYQYASTDMDRVLLKYTEYNEPHESLTNKNIIEKENKNGVMSPDSPEAETDYTLTPRTEAKYNKIDEEFQNMMQRNQMAIGGAGAPRQLPNSSYTLPVSVPVPGSYGDNLLQASPQMSHTNISPRPSSSETDSVYPSGSMLEMSNGYPHSHSPLVGSPSPGPSPGIAHHLSIKQQSPGSQNGRASNLRVVIPPTIAPIPPNMSAPDDVGYADQRQSQTSLNTPVVTLQTPIPALTSYSFGAQDFSSSGVMNSADIMSLNTWHQGLVPHSSLSHLAVSNSTPPPATSPVSIKVKAEPQSPPRDLSASGHQQNSNGSTGSGGSSSSTSSNASGGAGGGGAVSAANVITHLNNVSVLAGGPSGQGGGGGGGGSNGNVEQATNLSVLSHAQQHHLGMPNSRPSSTGHITPTPGHDKYEGYPYRALMGHNPRWNLNFAGAPSSDQDVRLAAVAVQQQQQQPHQQQQLGDYDAPNHKRPRISGGWGT", "length": 534, "header": "tr|A0A6M3QA49-1|A0A6M3QA49_DROME Computationally mapped isoform of Myocyte enhancer factor 2, isoform J OS=Drosophila melanogaster OX=7227 GN=Mef2 PE=4 SV=1 CANONICAL=P40791-1" }, "locus": { "chromosome": "2R", "start_pos": 9921663, "end_pos": 9916749, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0479642", "url": "https://www.ensembl.org/id/FBtr0479642" }, { "database": "Ensembl Peptide", "id": "FBpp0424319", "url": "https://www.ensembl.org/id/FBpp0424319" } ] } }, { "isoform_ac": "P40791-1", "url": "", "sequence": { "sequence": "MGRKKIQISRITDERNRQVTFNKRKFGVMKKAYELSVLCDCEIALIIFSSSNKLYQYASTDMDRVLLKYTEYNEPHESLTNKNIIEKENKNGVMSPDSPEAETDYTLTPRTEAKYNKIDEEFQNMMQRNQMAIGGAGAPRQLPNSSYTLPVSVPVPGSYGDNLLQASPQMSHTNISPRPSSSETDSGGMSLIIYPSGSMLEMSNGYPHSHSPLVGSPSPGPSPGIAHHLSIKQQSPGSQNGRASNLRVVIPPTIAPIPPNMSAPDDVGYADQRQSQTSLNTPVVTLQTPIPALTSYSFGAQDFSSSGVMNSADIMSLNTWHQGLVPHSSLSHLAVSNSTPPPATSPVSIKVKAEPQSPPRDLSASGHQQNSNGSTGSGGSSSSTSSNASGGAGGGGAVSAANVITHLNNVSVLAGGPSGQGGGGGGGGSNGNVEQATNLSVLSHAQQHHLGMPNSRPSSTGHITPTPGHDKYEGYPYRALMGHNPRWNLNFAGAPSSDQDVRLAAVAVQQQQQQPHQQQQLGDYDAPNHKRPRISGGWGT", "length": 540, "header": "sp|P40791-1|MEF2_DROME Isoform 1 of Myocyte-specific enhancer factor 2 OS=Drosophila melanogaster OX=7227 GN=Mef2 PE=1 SV=3 CANONICAL=P40791-1" }, "locus": { "chromosome": "2R", "start_pos": 9921663, "end_pos": 9916749, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0088443", "url": "https://www.ensembl.org/id/FBtr0088443" }, { "database": "Ensembl Peptide", "id": "FBpp0087529", "url": "https://www.ensembl.org/id/FBpp0087529" } ] } }, { "isoform_ac": "P40791-2", "url": "", "sequence": { "sequence": "MGRKKIQISRITDERNRQVTFNKRKFGVMKKAYELSVLCDCEIALIIFSSSNKLYQYASTDMDRVLLKYTEYNEPHESLTNKNIIEKENKNGVMSPDSPEAETDYTLTPRTEAKYNKIDEEFQNMMQRNQMAIGGAGAPRQLPNSSYTLPVSVPVPGSYGDNLLQASPQMSHTNISPRPSSSETDSVYPSGSMLEMSNGYPHSHSPLVGSPSPGPSPGIAHHLSIKQQSPGSQNGRASNLRVVIPPTIAPIPPNMSAPDDVGYADQRQSQTSLNTPVVTLQTPIPALTSYSFGAQDFSSSGVMNSADIMSLNTWHQGLVPHSSLSHLAVSNSTPPPATSPVSIKVKAEPQSPPRDLSASGHQQNSNGSTGSGGSSSSTSSNASGGAGGGGAVSAANVITHLNNVSVLAGGPSGQGGGGGGGGSNGNVEQATNLSVLSHAQQHHLGMPNSRPSSTGHITPTPDFIILNAGAPSSDQDVRLAAVAVQQQQQQPHQQQQLGDYDAPNHKRPRISGGWGT", "length": 516, "header": "sp|P40791-2|MEF2_DROME Isoform 2 of Myocyte-specific enhancer factor 2 OS=Drosophila melanogaster OX=7227 GN=Mef2 PE=1 SV=3 CANONICAL=P40791-1" }, "locus": { "chromosome": "2R", "start_pos": 9921663, "end_pos": 9916749, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0088444", "url": "https://www.ensembl.org/id/FBtr0088444" }, { "database": "Ensembl Peptide", "id": "FBpp0087530", "url": "https://www.ensembl.org/id/FBpp0087530" } ] } }, { "isoform_ac": "P40791-3", "url": "", "sequence": { "sequence": "MGRKKIQISRITDERNRQVTFNKRKFGVMKKAYELSVLCDCEIALIIFSSSNKLYQYASTDMDRVLLKYTEYNEPHESLTNKNIIEKENKNGVMSPDSPEAETDYTLTPRTEAKYNKIDEEFQNMMQRNQMAIGGAGAPRQLPNSSYTLPVSVPVPGSYGDNLLQASPQMSHTNISPRPSSSETDSVYPSGSMLEMSNGYPHSHSPLVGSPSPGPSPGIAHHLSIKQQSPGSQNGRASNLRVVIPPTIAPIPPNMSAPDDVGYADQRQSQTSLNTPVVTLQTPIPALTSYSFGAQDFSSSGVMNSADIMSLNTWHQGLVPHSSLSHLAVSNSTPPPATSPVSIKVKAEPQSPPRDLSASGHQQNSNGSTGSGGSSSSTSSNASGGAGGGGAVSAANVITHLNNVSVLAGGPSGQGGGGGGGGSNGNVEQATNLSVLSHAQQHHLGMPNSRPSSTGHITPTPGAPSSDQDVRLAAVAVQQQQQQPHQQQQLGDYDAPNHKRPRISGGWGT", "length": 509, "header": "sp|P40791-3|MEF2_DROME Isoform 3 of Myocyte-specific enhancer factor 2 OS=Drosophila melanogaster OX=7227 GN=Mef2 PE=1 SV=3 CANONICAL=P40791-1" }, "locus": { "chromosome": "2R", "start_pos": 9921663, "end_pos": 9916749, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0088446", "url": "https://www.ensembl.org/id/FBtr0088446" }, { "database": "Ensembl Peptide", "id": "FBpp0087532", "url": "https://www.ensembl.org/id/FBpp0087532" } ] } }, { "isoform_ac": "P40791-4", "url": "", "sequence": { "sequence": "MGRKKIQISRITDERNRQVTFNKRKFGVMKKAYELSVLCDCEIALIIFSSSNKLYQYASTDMDRVLLKYTEYNEPHESLTNKNIIEKENKNGVMSPDSPEAETDYTLTPRTEAKYNKIDEEFQNMMQRNQMAIGGAGAPRQLPNSSYTLPVSVPVPGSYGDNLLQASPQMSHTNISPRPSSSETDSGGMSLIIYPSGSMLEMSNGYPHSHSPLVGSPSPGPSPGIAHHLSIKQQSPGSQNGRASNLRVVIPPTIAPIPPNMSAPDDVGYADQRQSQTSLNTPVVTLQTPIPALTSYSFGAQDFSSSGVMNSADIMSLNTWHQGLVPHSSLSHLAVSNSTPPPATSPVSIKVKAEPQSPPRDLSASGHQQNSNGSTGSGGSSSSTSSNASGGAGGGGAVSAANVITHLNNVSVLAGGPSGQGGGGGGGGSNGNVEQATNLSVLSHAQQHHLGMPNSRPSSTGHITPTPGAPSSDQDVRLAAVAVQQQQQQPHQQQQLGDYDAPNHKRPRISGGWGT", "length": 515, "header": "sp|P40791-4|MEF2_DROME Isoform 4 of Myocyte-specific enhancer factor 2 OS=Drosophila melanogaster OX=7227 GN=Mef2 PE=1 SV=3 CANONICAL=P40791-1" }, "locus": { "chromosome": "2R", "start_pos": 9921663, "end_pos": 9916749, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0088445", "url": "https://www.ensembl.org/id/FBtr0088445" }, { "database": "Ensembl Peptide", "id": "FBpp0087531", "url": "https://www.ensembl.org/id/FBpp0087531" } ] } }, { "isoform_ac": "P40791-6", "url": "", "sequence": { "sequence": "MGRKKIQISRITDERNRQVTFNKRKFGVMKKAYELSVLCDCEIALIIFSSSNKLYQYASTDMDRVLLKYTEYNEPHESLTNKNIIEKENKNGVMSPDSPEAETDYTLTPRTEAKYNKIDEEFQNMMQRNQMAIGGAGAPRQLPNSSYTLPVSVPVPGSYGDNLLQASPQMSHTNISPRPSSSETDSAHHLSIKQQSPGSQNGRASNLRVVIPPTIAPIPPNMSAPDDVGYADQRQSQTSLNTPVVTLQTPIPALTSYSFGAQDFSSSGVMNSADIMSLNTWHQGLVPHSSLSHLAVSNSTPPPATSPVSIKVKAEPQSPPRDLSASGHQQNSNGSTGSGGSSSSTSSNASGGAGGGGAVSAANVITHLNNVSVLAGGPSGQGGGGGGGGSNGNVEQATNLSVLSHAQQHHLGMPNSRPSSTGHITPTPGHDKYEGYPYRALMGHNPRWNLNFAGAPSSDQDVRLAAVAVQQQQQQPHQQQQLGDYDAPNHKRPRISGGWGT", "length": 501, "header": "sp|P40791-6|MEF2_DROME Isoform 6 of Myocyte-specific enhancer factor 2 OS=Drosophila melanogaster OX=7227 GN=Mef2 PE=1 SV=3 CANONICAL=P40791-1" }, "locus": { "chromosome": "2R", "start_pos": 9921663, "end_pos": 9916749, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0088447", "url": "https://www.ensembl.org/id/FBtr0088447" }, { "database": "Ensembl Peptide", "id": "FBpp0089303", "url": "https://www.ensembl.org/id/FBpp0089303" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 20, "end_pos": 20, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P40791", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P40791" }, { "database": "PubMed", "id": "24075010", "url": "https://glygen.org/publication/PubMed/24075010" } ], "site_lbl": "Thr20" }, { "start_pos": 95, "end_pos": 95, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P40791", "url": "https://www.uniprot.org/uniprot/P40791" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "phospho.ELM", "id": "P40791", "url": "http://phospho.elm.eu.org/byAccession/P40791.html" }, { "database": "iPTMnet", "id": "P40791", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P40791" } ], "site_lbl": "Ser95" }, { "start_pos": 98, "end_pos": 98, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P40791", "url": "https://www.uniprot.org/uniprot/P40791" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "phospho.ELM", "id": "P40791", "url": "http://phospho.elm.eu.org/byAccession/P40791.html" }, { "database": "iPTMnet", "id": "P40791", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P40791" } ], "site_lbl": "Ser98" } ], "glycation": [], "keywords": [], "publication": [ { "title": "The genome sequence of Drosophila melanogaster.", "journal": "Science", "date": "2000", "authors": "Adams MD, Celniker SE, Holt RA, Evans CA, Gocayne JD, Amanatides PG, Scherer SE, Li PW, Hoskins RA, Galle RF, George RA, Lewis SE, Richards S, Ashburner M, Henderson SN, Sutton GG, Wortman JR, Yandell MD, Zhang Q, Chen LX, Brandon RC, Rogers YH, Blazej RG, Champe M, Pfeiffer BD, Wan KH, Doyle C, Baxter EG, Helt G, Nelson CR, Gabor GL, Abril JF, Agbayani A, An HJ, Andrews-Pfannkoch C, Baldwin D, Ballew RM, Basu A, Baxendale J, Bayraktaroglu L, Beasley EM, Beeson KY, Benos PV, Berman BP, Bhandari D, Bolshakov S, Borkova D, Botchan MR, Bouck J, Brokstein P, Brottier P, Burtis KC, Busam DA, Butler H, Cadieu E, Center A, Chandra I, Cherry JM, Cawley S, Dahlke C, Davenport LB, Davies P, de Pablos B, Delcher A, Deng Z, Mays AD, Dew I, Dietz SM, Dodson K, Doup LE, Downes M, Dugan-Rocha S, Dunkov BC, Dunn P, Durbin KJ, Evangelista CC, Ferraz C, Ferriera S, Fleischmann W, Fosler C, Gabrielian AE, Garg NS, Gelbart WM, Glasser K, Glodek A, Gong F, Gorrell JH, Gu Z, Guan P, Harris M, Harris NL, Harvey D, Heiman TJ, Hernandez JR, Houck J, Hostin D, Houston KA, Howland TJ, Wei MH, Ibegwam C, Jalali M, Kalush F, Karpen GH, Ke Z, Kennison JA, Ketchum KA, Kimmel BE, Kodira CD, Kraft C, Kravitz S, Kulp D, Lai Z, Lasko P, Lei Y, Levitsky AA, Li J, Li Z, Liang Y, Lin X, Liu X, Mattei B, McIntosh TC, McLeod MP, McPherson D, Merkulov G, Milshina NV, Mobarry C, Morris J, Moshrefi A, Mount SM, Moy M, Murphy B, Murphy L, Muzny DM, Nelson DL, Nelson DR, Nelson KA, Nixon K, Nusskern DR, Pacleb JM, Palazzolo M, Pittman GS, Pan S, Pollard J, Puri V, Reese MG, Reinert K, Remington K, Saunders RD, Scheeler F, Shen H, Shue BC, Siden-Kiamos I, Simpson M, Skupski MP, Smith T, Spier E, Spradling AC, Stapleton M, Strong R, Sun E, Svirskas R, Tector C, Turner R, Venter E, Wang AH, Wang X, Wang ZY, Wassarman DA, Weinstock GM, Weissenbach J, Williams SM, WoodageT, Worley KC, Wu D, Yang S, Yao QA, Ye J, Yeh RF, Zaveri JS, Zhan M, Zhang G, Zhao Q, Zheng L, Zheng XH, Zhong FN, Zhong W, Zhou X, Zhu S, Zhu X, Smith HO, Gibbs RA, Myers EW, Rubin GM, Venter JC", "evidence": [ { "database": "UniProtKB", "id": "P40791", "url": "https://www.uniprot.org/uniprot/P40791" }, { "database": "UniProtKB", "id": "A0A0B4KFI1", "url": "https://www.uniprot.org/uniprot/A0A0B4KFI1" }, { "database": "UniProtKB", "id": "A0A6M3Q705", "url": "https://www.uniprot.org/uniprot/A0A6M3Q705" }, { "database": "UniProtKB", "id": "A0A6M3Q823", "url": "https://www.uniprot.org/uniprot/A0A6M3Q823" }, { "database": "UniProtKB", "id": "A0A6M3QA49", "url": "https://www.uniprot.org/uniprot/A0A6M3QA49" }, { "database": "UniProtKB", "id": "A0A6M3Q797", "url": "https://www.uniprot.org/uniprot/A0A6M3Q797" }, { "database": "UniProtKB", "id": "A0A0B4KEP4", "url": "https://www.uniprot.org/uniprot/A0A0B4KEP4" } ], "reference": [ { "type": "PubMed", "id": "10731132", "url": "https://glygen.org/publication/PubMed/10731132" } ] }, { "title": "Finishing a whole-genome shotgun: release 3 of the Drosophila melanogaster euchromatic genome sequence.", "journal": "Genome Biol.", "date": "2002", "authors": "Celniker SE, Wheeler DA, Kronmiller 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