TBX20 - T-box transcription factor 20 Gene
Also Known as ASD4
Species: Homo sapiens
About TBX20
This gene has 2 transcripts (splice variants), 229 orthologues, 16 paralogues and is associated with 3 phenotypes. Biased expression in heart (RPKM 10.2), adrenal (RPKM 2.5) and 3 other tissues.
Summary
This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
TBX20 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001077653.2 | NP_001071121.1 | T-box transcription factor TBX20 isoform 1 |
| NM_001166220.1 | NP_001159692.1 | T-box transcription factor TBX20 isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA-binding transcription factor activity, RNA polymerase II-specific |
IDA
IDA: Inferred from direct assay
|
19762328 | GOA |
| enables RNA polymerase II transcription regulatory region sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
19762328 | GOA |
| enables sequence-specific double-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
28473536 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in aortic valve morphogenesis |
IMP
IMP: Inferred from mutant phenotype
|
18275040 | GOA |
| involved in atrial septum morphogenesis |
IMP
IMP: Inferred from mutant phenotype
|
17668378 | GOA |
| involved in foramen ovale closure |
IMP
IMP: Inferred from mutant phenotype
|
19762328 | GOA |
| involved in outflow tract septum morphogenesis |
IMP
IMP: Inferred from mutant phenotype
|
18275040 | GOA |
| involved in pulmonary vein morphogenesis |
IMP
IMP: Inferred from mutant phenotype
|
18834961 | GOA |
TBX20 Protein Structure
T-box: T-box (102 - 289)
- 0
- 100
- 200
- 300
- 400
- 447 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
T-box transcription factor TBX20 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Atrial Septal Defect 4 |
|
|
| Hypoplastic Left Heart Syndrome |
|
|
| Hypoplastic Right Heart Syndrome |
|
|
| Wolff-Parkinson-White Syndrome |
|
|
| Patent Foramen Ovale |
|
|
| Double Outlet Right Ventricle |
|
|
| Cardiomyopathy, Familial Hypertrophic, 3 |
|
|
| Tetralogy Of Fallot |
|
|
| Heart Septal Defect |
|
|
| Char Syndrome |
|
|
| Holt-Oram Syndrome |
|
|
| Ulnar-Mammary Syndrome |
|
|
| Tricuspid Atresia |
|
|
| Atrial Septal Defect 5 |
|
|
| Subvalvular Aortic Stenosis |
|
|
| Heart Disease |
|
|
| Atrioventricular Septal Defect |
|
|
| Atrial Heart Septal Defect |
|
|
| Lutembacher'S Syndrome |
|
|
| Patent Ductus Arteriosus 1 |
|
|
| Ebstein Anomaly |
|
|
| Aortic Valve Disease 1 |
|
|
| Atrial Septal Defect 6 |
|
|
| Left Ventricular Noncompaction |
|
|
| Atrial Septal Defect 2 |
|
|
| Tricuspid Valve Disease |
|
|
| Ventricular Septal Defect |
|
|
| Right Atrial Isomerism |
|
|
| Transposition Of The Great Arteries, Dextro-Looped |
|
|
| Jacobsen Syndrome |
|
|
| Physical Disorder |
|
|
| Velocardiofacial Syndrome |
|
|
| Kabuki Syndrome 1 |
|
|
| Orthostatic Intolerance |
|
|
| Rasopathy |
|
|
| Aortic Aneurysm, Familial Thoracic 1 |
|
|
| Lipoprotein Quantitative Trait Locus |
|
|
| Chromosome 22q11.2 Deletion Syndrome, Distal |
|
|
| Williams-Beuren Syndrome |
|
|
| Noonan Syndrome 1 |
|
|
| Dilated Cardiomyopathy |
|
|
| Hypertrophic Cardiomyopathy |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | TBX20 | VGNC | VGNC:35667 |
| Canis familiaris | TBX20 | VGNC | VGNC:47172 |
| Macaca mulatta | TBX20 | VGNC | VGNC:78270 |
| Mus musculus | TBX20 | MGD | MGI:1888496 |
| Rattus norvegicus | TBX20 | RGD | RGD:1309396 |
| Felis catus | TBX20 | VGNC | VGNC:66004 |
| Others | TBX20 | NCBI |