{ "uniprot_canonical_ac": "A0A0G2KAH3-1", "uniprot_ac": "A0A0G2KAH3", "uniprot_id": "A0A0G2KAH3_RAT", "mass": { "chemical_mass": 49163.0, "monoisotopic_mass": 49163.0 }, "refseq": { "ac": "NP_001101602", "name": "T-box transcription factor TBX20 isoform 2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001101602" }, "gene_names": [ { "name": "Tbx20", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3", "id": "A0A0G2KAH3" }, { "name": "Tbx20", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001101602", "id": "NP_001101602" } ], "protein_names": [ { "name": "T-box transcription factor 20", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A0G2KAH3" }, { "name": "T-box transcription factor TBX20 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001101602", "id": "NP_001101602" }, { "name": "T-box transcription factor TBX20; T-box 20", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001101602", "id": "NP_001101602" } ], "function": [ { "annotation": "Cardiac TBX20 expression showed a negative correlation with LVEF and a positive correlation with left ventricular end-systolic volume. No significant difference in TBX20 CNVs and promoter methylation was observed between IDCM patients and control group", "evidence": [ { "database": "RefSeq", "id": "NP_001101602", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001101602" }, { "database": "PubMed", "id": "26895318", "url": "https://glygen.org/publication/PubMed/26895318" } ] }, { "annotation": "Silencing of TBX20 in rat myocardial and human embryonic kidney cells significantly inhibited cell proliferation, induced cell apoptosis and led to G2/M cell cycle arrest.", "evidence": [ { "database": "RefSeq", "id": "NP_001101602", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001101602" }, { "database": "PubMed", "id": "27572266", "url": "https://glygen.org/publication/PubMed/27572266" } ] } ], "disease": [ { "disease_id": "DOID:0050700", "recommended_name": { "id": "DOID:0050700", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle." }, "synonyms": [ { "id": "DOID:0050700", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050700", "name": "Cardiomyopathies", "description": "" } ], "evidence": [ { "id": "0050700", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ] }, { "disease_id": "DOID:0110109", "recommended_name": { "id": "DOID:0110109", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110109", "name": "atrial heart septal defect 4", "description": "An atrial heart septal defect type 4 that has_material_basis_in mutation in the TBX20 gene." }, "synonyms": [ { "id": "DOID:0110109", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110109", "name": "ASD4", "description": "" }, { "id": "DOID:0110109", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110109", "name": "atrial septal defect 4", "description": "" }, { "id": "MONDO:0012654", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012654", "name": "atrial septal defect 4", "description": "Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene." }, { "id": "MONDO:0012654", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012654", "name": "ASD4", "description": "" }, { "id": "MONDO:0012654", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012654", "name": "TBX20 atrial heart septal defect", "description": "" }, { "id": "MONDO:0012654", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012654", "name": "atrial heart septal defect caused by mutation in TBX20", "description": "" }, { "id": "MONDO:0012654", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012654", "name": "atrial heart septal defect type 4", "description": "" }, { "id": "MONDO:0012654", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012654", "name": "atrial septal defect 4", "description": "" }, { "id": "MONDO:0012654", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012654", "name": "atrial septal defect type 4", "description": "" }, { "id": "MIM:611363", "resource": "MIM", "url": "https://www.omim.org/entry/611363", "name": "Atrial septal defect 4", "description": "Atrial septal defect 4" } ], "evidence": [ { "id": "0110109", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110109" } ] }, { "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:1657", "recommended_name": { "id": "DOID:1657", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1657", "name": "ventricular septal defect", "description": "A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles." }, "synonyms": [ { "id": "DOID:1657", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1657", "name": "Interventricular septal defect", "description": "" }, { "id": "DOID:1657", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1657", "name": "Ventricular septal abnormality", "description": "" }, { "id": "MONDO:0013746", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013746", "name": "ventricular septal defect 1", "description": "Any ventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene." }, { "id": "MONDO:0013746", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013746", "name": "GATA4 ventricular septal defect (disease)", "description": "" }, { "id": "MONDO:0013746", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013746", "name": "ventricular septal defect (disease) caused by mutation in GATA4", "description": "" }, { "id": "MONDO:0013746", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013746", "name": "ventricular septal defect 1", "description": "" }, { "id": "MONDO:0013746", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013746", "name": "ventricular septal defect type 1", "description": "" }, { "id": "MONDO:0013746", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013746", "name": "VSD1", "description": "" }, { "id": "MONDO:0013748", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013748", "name": "ventricular septal defect 2", "description": "Any ventricular septal defect in which the cause of the disease is a mutation in the CITED2 gene." }, { "id": "MONDO:0013748", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013748", "name": "CITED2 ventricular septal defect (disease)", "description": "" }, { "id": "MONDO:0013748", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013748", "name": "ventricular septal defect (disease) caused by mutation in CITED2", "description": "" }, { "id": "MONDO:0013748", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013748", "name": "ventricular septal defect 2", "description": "" }, { "id": "MONDO:0013748", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013748", "name": "ventricular septal defect type 2", "description": "" }, { "id": "MONDO:0013748", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013748", "name": "VSD2", "description": "" }, { "id": "MONDO:0013749", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013749", "name": "ventricular septal defect 3", "description": "Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene." }, { "id": "MONDO:0013749", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013749", "name": "NKX2-5 ventricular septal defect (disease)", "description": "" }, { "id": "MONDO:0013749", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013749", "name": "ventricular septal defect (disease) caused by mutation in NKX2-5", "description": "" }, { "id": "MONDO:0013749", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013749", "name": "ventricular septal defect 3", "description": "" }, { "id": "MONDO:0013749", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013749", "name": "ventricular septal defect type 3", "description": "" }, { "id": "MONDO:0013749", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013749", "name": "VSD3", "description": "" }, { "id": "MIM:614429", "resource": "MIM", "url": "https://www.omim.org/entry/614429", "name": "Ventricular septal defect 1", "description": "Ventricular septal defect 1" }, { "id": "MIM:614431", "resource": "MIM", "url": "https://www.omim.org/entry/614431", "name": "Ventricular septal defect 2", "description": "Ventricular septal defect 2" }, { "id": "MIM:614432", "resource": "MIM", "url": "https://www.omim.org/entry/614432", "name": "Ventricular septal defect 3", "description": "Ventricular septal defect 3" } ], "evidence": [ { "id": "1657", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1657" } ] }, { "disease_id": "DOID:1682", "recommended_name": { "id": "DOID:1682", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1682", "name": "congenital heart disease", "description": "" }, "synonyms": [ { "id": "DOID:1682", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1682", "name": "Congenital Heart Defects", "description": "" }, { "id": "DOID:1682", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1682", "name": "Congenital anomaly of heart", "description": "" }, { "id": "DOID:1682", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1682", "name": "Heart Malformation", "description": "" }, { "id": "DOID:1682", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1682", "name": "congenital heart defect", "description": "" }, { "id": "DOID:1682", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1682", "name": "heart defect", "description": "" } ], "evidence": [ { "id": "1682", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1682" } ] }, { "disease_id": "DOID:1882", "recommended_name": { "id": "DOID:1882", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1882", "name": "atrial heart septal defect", "description": "A heart septal defect located_in in the septum that separates the two atria of the heart." }, "synonyms": [ { "id": "DOID:1882", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1882", "name": "atrial septal defect", "description": "" }, { "id": "DOID:1882", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1882", "name": "atrioseptal defect", "description": "" }, { "id": "DOID:1882", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1882", "name": "auricular septal defect", "description": "" }, { "id": "DOID:1882", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1882", "name": "congenital atrial septal defect", "description": "" }, { "id": "DOID:1882", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1882", "name": "interatrial septal defect", "description": "" }, { "id": "DOID:1882", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1882", "name": "interauricular septal defect", "description": "" }, { "id": "MONDO:0007172", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007172", "name": "atrial septal defect 1", "description": "An atrial heart septal defect type 1 associated with variation in the region 5p." }, { "id": "MONDO:0007172", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007172", "name": "ASD1", "description": "" }, { "id": "MONDO:0007172", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007172", "name": "atrial heart septal defect type 1", "description": "" }, { "id": "MONDO:0007172", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007172", "name": "atrial septal defect 1", "description": "" }, { "id": "MONDO:0007172", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007172", "name": "ASD 1", "description": "" }, { "id": "MONDO:0007172", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007172", "name": "ASD 2", "description": "" }, { "id": "MONDO:0007172", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007172", "name": "atrial septal defect, primum type", "description": "" }, { "id": "MONDO:0007172", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007172", "name": "atrial septal defect, secundum type", "description": "" } ], "evidence": [ { "id": "1882", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1882" } ] }, { "disease_id": "DOID:6419", "recommended_name": { "id": "DOID:6419", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6419", "name": "tetralogy of Fallot", "description": "" }, "synonyms": [ { "id": "DOID:6419", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6419", "name": "Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle", "description": "" }, { "id": "MONDO:0008542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008542", "name": "tetralogy of fallot", "description": "Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy." }, { "id": "MONDO:0008542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008542", "name": "tetralogy of fallot", "description": "" }, { "id": "MONDO:0008542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008542", "name": "ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle", "description": "" }, { "id": "MONDO:0008542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008542", "name": "Fallot tetralogy", "description": "" }, { "id": "MONDO:0008542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008542", "name": "TOF", "description": "" }, { "id": "MONDO:0008542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008542", "name": "tetralogy of FALLOT", "description": "" }, { "id": "MIM:187500", "resource": "MIM", "url": "https://www.omim.org/entry/187500", "name": "Tetralogy of Fallot", "description": "Tetralogy of Fallot" } ], "evidence": [ { "id": "6419", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6419" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "common_name": "Rat" } ], "gene": [ { "name": "Tbx20", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3", "locus": { "chromosome": "8", "start_pos": 23204507, "end_pos": 23258175, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000016181", "url": "https://www.ensembl.org/id/ENSRNOG00000016181" } ] } } ], "crossref": [ { "id": "ENSRNOG00000016181", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000016181", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd20193", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd20193", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "315497", "url": "https://www.ncbi.nlm.nih.gov/gene/315497", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR001699", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001699", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008967", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008967", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018186", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018186", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036960", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036960", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR046360", "url": "https://www.ebi.ac.uk/interpro/entry/IPR046360", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "rno:315497", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:315497", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "EDGHTTH", "url": "https://omabrowser.org/oma/group/EDGHTTH/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5323209at2759", "url": "http://www.orthodb.org/?query=5323209at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11267", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11267", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11267:SF190", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11267:SF190", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00907", "url": "http://pfam.xfam.org/family/PF00907", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "XP_006242782", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006242782", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "1309396", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1309396", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "A0A0G2KAH3", "url": 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"tr|A0A0G2KAH3-1|A0A0G2KAH3_RAT Isoform 1 of T-box transcription factor 20 OS=Rattus norvegicus OX=10116 GN=Tbx20 PE=4 SV=1 CANONICAL=A0A0G2KAH3-1" }, "isoforms": [ { "isoform_ac": "A0A0G2KAH3-1", "url": "", "sequence": { "sequence": "MEFTASPKPQLSSRANAFSIAALMSSGGPKEKEAAENTIKPLEQFVEKSSCAQPLGELTSLDAHAEFGGGGGSSPSSSSLCTEPLIPTTPIIPSEEMAKIACSLETKELWDKFHELGTEMIITKSGRRMFPTIRVSFSGVDPEAKYIVLMDIVPVDNKRYRYAYHRSSWLVAGKADPPLPARLYVHPDSPFTGEQLLKQMVSFEKVKLTNNELDQHGHIILNSMHKYQPRVHIIKKKDHTASLLNLKSEEFRTFIFPETVFTAVTAYQNQLITKLKIDSNPFAKGFRDSSRLTDIERESVESLIQKHSYARSPIRTYGEEDVLGEESQTTPNRGSAFTTSDNLSLSSWVSSSSSFPGFQHPQPLTALGTSTASIATPIPHPIQGSLPPYSRLGMPLTPSAIASSMQGSGPTFPSFHMPRYHHYFQQGPYAAIQGLRHSSAVMTPFV", "length": 446, "header": "tr|A0A0G2KAH3-1|A0A0G2KAH3_RAT Isoform 1 of T-box transcription factor 20 OS=Rattus norvegicus OX=10116 GN=Tbx20 PE=4 SV=1 CANONICAL=A0A0G2KAH3-1" }, "locus": { "chromosome": "8", "start_pos": 23257770, "end_pos": 23204574, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", 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"https://www.ensembl.org/id/ENSRNOT00000064783.3" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000063295.2", "url": "https://www.ensembl.org/id/ENSRNOP00000063295.2" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Role of cardiac TBX20 in dilated cardiomyopathy.", "journal": "Molecular and cellular biochemistry", "date": "2016", "authors": "Mittal A, Sharma R, Prasad R, Bahl A, Khullar M", "evidence": [ { "database": "RefSeq", "id": "NP_001101602", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001101602" } ], "reference": [ { "type": "PubMed", "id": "26895318", "url": "https://glygen.org/publication/PubMed/26895318" } ] }, { "title": "Silencing of TBX20 gene expression in rat myocardial and human embryonic kidney cells leads to cell cycle arrest in G2 phase.", "journal": "Molecular medicine reports", "date": "2016", "authors": "Liu P, Sun Y, Qiu G, Jiang H, Qiu G", "evidence": [ { "database": "RefSeq", "id": "NP_001101602", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001101602" } ], "reference": [ { "type": "PubMed", "id": "27572266", "url": "https://glygen.org/publication/PubMed/27572266" } ] } ], "pathway": [ { "id": "rno:315497", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:315497", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q9ES03-1", "protein_name": "T-box transcription factor TBX20", "gene_name": "Tbx20", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MEFTASPKPQLSSRANAFSIAALMSSGGPKEKEAAENTIKPLEQFVEKSSCAQPLGELTSLDAHAEFGGGGGSPSSSSLCTEPLIPTTPIIPSEEMAKIACSLETKELWDKFHELGTEMIITKSGRRMFPTIRVSFSGVDPESKYIVLMDIVPVDNKRYRYAYHRSSWLVAGKADPPLPARLYVHPDSPFTGEQLLKQMVSFEKVKLTNNELDQHGHIILNSMHKYQPRVHIIKKKDHTASLLNLKSEEFRTFIFPETVFTAVTAYQNQLITKLKIDSNPFAKGFRDSSRLTDIERESVESLIQKHSYARSPIRTYGEEDVLGEESQTTQSRGSAFTTSDNLSLSSWVSSSSSFPGFQHPQPLTALGTSTASIATPIPHPIQGSLPPYSRLGMPLTPSAIASSMQGSGPTFPSFHMPRYHHYFQQGPYAAIQGLRHSSAVMTPFV", "length": 445 }, "evidence": [ { "id": "45224256", "url": "http://www.informatics.jax.org/homology/45224256", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9UMR3-1", "protein_name": "T-box transcription factor TBX20", "gene_name": "TBX20", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MEFTASPKPQLSSRANAFSIAALMSSGGSKEKEATENTIKPLEQFVEKSSCAQPLGELTSLDAHGEFGGGSGSSPSSSSLCTEPLIPTTPIIPSEEMAKIACSLETKELWDKFHELGTEMIITKSGRRMFPTIRVSFSGVDPEAKYIVLMDIVPVDNKRYRYAYHRSSWLVAGKADPPLPARLYVHPDSPFTGEQLLKQMVSFEKVKLTNNELDQHGHIILNSMHKYQPRVHIIKKKDHTASLLNLKSEEFRTFIFPETVFTAVTAYQNQLITKLKIDSNPFAKGFRDSSRLTDIERESVESLIQKHSYARSPIRTYGGEEDVLGDESQTTPNRGSAFTTSDNLSLSSWVSSSSSFPGFQHPQSLTALGTSTASIATPIPHPIQGSLPPYSRLGMPLTPSAIASSMQGSGPTFPSFHMPRYHHYFQQGPYAAIQGLRHSSAVMTPFV", "length": 447 }, "evidence": [ { "id": "45224256", "url": "http://www.informatics.jax.org/homology/45224256", "database": "MGI" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 43, "go_terms": [ { "name": "cell fate specification", "id": "GO:0001708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001708", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "atrioventricular canal development", "id": "GO:0036302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036302", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "atrioventricular valve development", "id": "GO:0003171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003171", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "pulmonary vein morphogenesis", "id": "GO:0060577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060577", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "tricuspid valve development", "id": "GO:0003175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003175", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "embryonic heart tube elongation", "id": "GO:0036306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036306", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "visceral motor neuron differentiation", "id": "GO:0021524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021524", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "negative regulation of SMAD protein complex assembly", "id": "GO:0010991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010991", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "motor neuron migration", "id": "GO:0097475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097475", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "muscle contraction", "id": "GO:0006936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006936", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "blood circulation", "id": "GO:0008015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008015", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "cardiac muscle tissue morphogenesis", "id": "GO:0055008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055008", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "endocardial cushion morphogenesis", "id": "GO:0003203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003203", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "positive regulation of BMP signaling pathway", "id": "GO:0030513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030513", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "branching involved in blood vessel morphogenesis", "id": "GO:0001569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001569", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "embryonic heart tube morphogenesis", "id": "GO:0003143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003143", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "pulmonary valve formation", "id": "GO:0003193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003193", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "embryonic heart tube development", "id": "GO:0035050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035050", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "foramen ovale closure", "id": "GO:0035922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035922", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "mesenchymal cell development", "id": "GO:0014031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014031", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "endocardial cushion formation", "id": "GO:0003272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003272", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "pericardium morphogenesis", "id": "GO:0003344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003344", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprot/A0A0G2KAH3" } ], "pmid": "" }, { "name": "outflow tract septum morphogenesis", "id": "GO:0003148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003148", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", 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