TBX20: A Key Regulator in Cardiac Development and Disease
Comprehensive gene card for TBX20, including expression, mutations, and clinical significance
Gene Information Card
| Symbol | TBX20 |
|---|---|
| Full Name | T-box transcription factor 20 |
| Gene Type | protein-coding |
| Chromosomal Location | 7p14.2 |
| NCBI Gene ID | 57057 ncbi.nlm.nih.gov/gene/57057 |
| Ensembl ID | ENSG00000164532 |
| UniProt ID | Q9UMR3 |
| OMIM ID | 606061 |
| HGNC ID | 11598 |
| Aliases | TBX20, T-box 20, TBX20A, TBX20B |
Description
TBX20 is a member of the T-box family of transcription factors, characterized by a conserved DNA-binding domain known as the T-box. It plays a critical role in cardiac development, including heart tube formation, chamber specification, and valve morphogenesis. TBX20 regulates the expression of genes involved in cardiomyocyte proliferation and differentiation. Mutations in TBX20 are associated with congenital heart disease, including septal defects and cardiomyopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital heart disease (CHD) | Loss-of-function mutations impair TBX20 transcriptional activity, disrupting cardiac gene regulatory networks | PMID: 20015526 |
| Atrial septal defect | Dominant-negative mutations interfere with wild-type TBX20 function, leading to septation defects | PMID: 17544382 |
| Dilated cardiomyopathy | TBX20 mutations reduce expression of cardiac structural genes, contributing to ventricular dysfunction | PMID: 20807224 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Skeletal muscle | 2.1 | Low |
| Lung | 1.8 | Low |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 15.3 | High expression in differentiated cardiac cells |
| HeLa | 0.2 | Very low expression |
| HepG2 | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.508C>T (p.Arg170Trp) | Missense | Rare | Loss of DNA-binding activity |
| c.1042C>T (p.Arg348Trp) | Missense | Rare | Dominant-negative effect |
| c.1198delC (p.Leu400Trpfs*12) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that truncate or disrupt the T-box domain, reducing transcriptional activation of target genes.
Gain of Function (GOF)
Not reported for TBX20; most mutations are loss-of-function or dominant-negative.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg348Trp) that retain DNA binding but fail to activate transcription, interfering with wild-type TBX20.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cardiac progenitor differentiation
• Heart development
• T-box transcription factor pathway
Protein Summary
TBX20 is a 442-amino acid transcription factor containing a T-box DNA-binding domain. It localizes to the nucleus and regulates gene expression by binding to T-box binding elements (TBE) in target gene promoters. TBX20 interacts with other cardiac transcription factors such as NKX2-5 and GATA4 to coordinate heart development. The protein is essential for cardiomyocyte proliferation and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBX20 Knockout HEK293 Cell Line | EDJ-KQ15656 | Human | 57057 | Details Get a Quote |
| TBX20 Knockout A-549 Cell Line | EDJ-KQ45329 | Human | 57057 | Details Get a Quote |
| TBX20 Knockout HeLa Cell Line | EDJ-KQ56794 | Human | 57057 | Details Get a Quote |
| TBX20 Knockout HCT 116 Cell Line | EDJ-KQ73741 | Human | 57057 | Details Get a Quote |
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