NP_001159692.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
T-box transcription factor TBX20 isoform 2
NCBI Official Synonym Full Names
T-box 20
NCBI Official Synonym Symbols
NCBI Protein Information
T-box transcription factor TBX20; T-box protein 20
UniProt Protein Name
T-box transcription factor TBX20
UniProt Synonym Gene Names
UniProt Entry Name
TBX20_HUMAN
NCBI Summary for TBX20
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]
UniProt Comments for TBX20
Function: Acts as a transcriptional activator and repressor required for cardiac development and may have key roles in the maintenance of functional and structural phenotypes in adult heart
By similarity.
Subcellular location: Nucleus
Potential.
Involvement in disease: Atrial septal defect 4 (ASD4) [MIM:611363]: 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. Patients show other heart abnormalities including defects in septation, chamber growth and valvulogenesis. The disease is not associated with defects in the cardiac conduction system or with non-cardiac abnormalities.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7
Sequence similarities: Contains 1 T-box DNA-binding domain.
Sequence caution: The sequence AAD21787.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence AAI20946.1 differs from that shown. Reason: Frameshift at position 294. The sequence AAI20946.1 differs from that shown. Reason: Intron retention.The sequence AAI20947.1 differs from that shown. Reason: Intron retention.
Research Articles on TBX20
Precautions
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Products associated with TBX20 peptide
Pathways associated with TBX20 peptide
Diseases associated with TBX20 peptide
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