Description: Homo sapiens T-box transcription factor 20 (TBX20), transcript variant 2, mRNA. (from RefSeq NM_001166220) RefSeq Summary (NM_001077653): 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]. Gencode Transcript: ENST00000408931.4 Gencode Gene: ENSG00000164532.11 Transcript (Including UTRs) Position: hg38 chr7:35,202,430-35,254,100 Size: 51,671 Total Exon Count: 8 Strand: - Coding Region Position: hg38 chr7:35,202,430-35,253,620 Size: 51,191 Coding Exon Count: 8
ID:TBX20_HUMAN DESCRIPTION: RecName: Full=T-box transcription factor TBX20; Short=T-box protein 20; FUNCTION: Probable transcriptional regulator involved in developmental processes. SUBCELLULAR LOCATION: Nucleus (Potential). DISEASE: Defects in TBX20 are the cause of atrial septal defect type 4 (ASD4) [MIM:611363]. ASD4 is a congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. ASD4 patients show other heart abnormalities including defects in septation, chamber growth and valvulogenesis. ASD4 is not associated with defects in the cardiac conduction system or with non-cardiac abnormalities. SIMILARITY: Contains 1 T-box DNA-binding domain. SEQUENCE CAUTION: Sequence=AAD21787.1; Type=Erroneous gene model prediction; Sequence=AAI20946.1; Type=Frameshift; Positions=294; Sequence=AAI20946.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=AAI20947.1; Type=Miscellaneous discrepancy; Note=Intron retention;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UMR3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.