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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TBX20
T-box transcription factor 20
Chromosome 7 Β· 7p14.2
NCBI Gene: 57057Ensembl: ENSG00000164532.11HGNC: HGNC:11598UniProt: Q9UMR3
53PubMed Papers
21Diseases
0Drugs
46Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
pulmonary vein morphogenesisatrial septum morphogenesisforamen ovale closureRNA polymerase II transcription regulatory region sequence-specific DNA bindingatrial heart septal defectdilated cardiomyopathyatrial septal defect 1Abnormality of the cardiovascular system
✦AI Summary

TBX20 is a T-box transcription factor essential for cardiac development and adult heart function, acting as both transcriptional activator and repressor 1. During embryogenesis, TBX20 regulates multiple cardiac morphogenic processes including chamber septation, valvulogenesis, and outflow tract development 2. Mechanistically, TBX20 colocalizes with other cardiac transcription factors (MEF2C, GATA4, TBX5) at cardiac gene enhancers to promote robust activation of genes controlling heart contraction and mitochondrial function 1. TBX20 specifically controls KCNH2 gene expression, regulating hERG channels critical for cardiac repolarization 3. Clinically, TBX20 mutations have substantial disease relevance. Meta-analysis indicates TBX20 mutations significantly increase congenital heart disease (CHD) risk (pooled OR = 5.73) 4, particularly affecting atrial septal defects 2. Promoter variants alter TBX20 transcriptional activity in dilated cardiomyopathy patients 5, while childhood-onset cardiomyopathies involve TBX20 mutations affecting cardiac development pathways 6. Functionally, TBX20 addition to reprogramming cocktails enhances human cardiomyocyte generation with improved contractility and mitochondrial respiration 1, suggesting therapeutic potential for cardiac regeneration and potentially informing future diagnostic and treatment strategies for CHD and cardiomyopathies 4.

Sources cited
1
TBX20 acts as transcriptional activator required for cardiac development and function; enhances contractility, mitochondrial function, and cardiac gene expression during reprogramming
PMID: 36102189
2
TBX20 mutations cause congenital heart defects including atrial septal defects, chamber septation defects, and are associated with dilated cardiomyopathy and arrhythmias
PMID: 33585493
3
Meta-analysis shows TBX20 gene mutations significantly increase CHD risk (pooled OR = 5.73); mutations affect protein structure and downstream cardiac gene expression
PMID: 39681102
4
TBX20 controls KCNH2 gene expression and hERG channel function; p.R311C mutation impairs KCNH2 transcriptional activation
PMID: 28049825
5
TBX20 promoter genetic variants significantly alter transcription activity and are associated with dilated cardiomyopathy
PMID: 38284443
6
TBX20 mutations identified as developmental cause of severe childhood-onset cardiomyopathies
PMID: 30384889
Disease Associationsβ“˜21
atrial heart septal defectOpen Targets
0.79Strong
dilated cardiomyopathyOpen Targets
0.67Moderate
atrial septal defect 1Open Targets
0.56Moderate
Abnormality of the cardiovascular systemOpen Targets
0.52Moderate
coronary artery diseaseOpen Targets
0.47Moderate
Myocardial IschemiaOpen Targets
0.45Moderate
atrial fibrillationOpen Targets
0.45Moderate
Brugada syndromeOpen Targets
0.41Moderate
left ventricular noncompactionOpen Targets
0.41Moderate
Abnormal cardiac septum morphologyOpen Targets
0.37Weak
atrial septal defect, ostium secundum typeOpen Targets
0.37Weak
aortic stenosisOpen Targets
0.36Weak
hypoplastic right heart syndromeOpen Targets
0.33Weak
hypoplastic left heart syndromeOpen Targets
0.33Weak
Wolff-Parkinson-White SyndromeOpen Targets
0.33Weak
myocardial infarctionOpen Targets
0.33Weak
coronary atherosclerosisOpen Targets
0.32Weak
dysenteryOpen Targets
0.30Weak
bipolar disorderOpen Targets
0.30Weak
oral mucosa leukoplakiaOpen Targets
0.29Weak
Atrial septal defect 4UniProt
Pathogenic Variants46
NM_001077653.2(TBX20):c.374C>A (p.Ser125Ter)Pathogenic
Aortic valve disease 1|Atrial septal defect 4|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 125
NM_001077653.2(TBX20):c.697dup (p.Ile233fs)Pathogenic
Cardiovascular phenotype|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 233
NM_001077653.2(TBX20):c.776del (p.Thr259fs)Pathogenic
not provided|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2025β†’ Residue 259
NM_001077653.2(TBX20):c.139G>T (p.Glu47Ter)Pathogenic
Cardiovascular phenotype|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 47
NM_001077653.2(TBX20):c.418dup (p.Val140fs)Pathogenic
not provided|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2023β†’ Residue 140
NM_001077653.2(TBX20):c.380+2T>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2026
NM_001077653.2(TBX20):c.322G>T (p.Glu108Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 108
NM_001077653.2(TBX20):c.833_836del (p.Asp278fs)Pathogenic
Primary dilated cardiomyopathy
β˜…β˜†β˜†β˜†2025β†’ Residue 278
NM_001077653.2(TBX20):c.367A>C (p.Thr123Pro)Likely pathogenic
Cardiovascular phenotype
β˜…β˜†β˜†β˜†2025β†’ Residue 123
NM_001077653.2(TBX20):c.381-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001077653.2(TBX20):c.61del (p.Ala21fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 21
NM_001077653.2(TBX20):c.890+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001077653.2(TBX20):c.357_361dup (p.Ile121delinsArgTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 121
NM_001077653.2(TBX20):c.127+2_127+10delLikely pathogenic
Atrial septal defect 4
β˜…β˜†β˜†β˜†2025
NM_001077653.2(TBX20):c.533del (p.Pro178fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 178
NM_001077653.2(TBX20):c.110del (p.Asn37fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 37
NM_001077653.2(TBX20):c.853G>T (p.Gly285Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 285
NM_001077653.2(TBX20):c.367dup (p.Thr123fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 123
NM_001077653.2(TBX20):c.654+1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001077653.2(TBX20):c.490_493dup (p.His165fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 165
View on ClinVar β†—
Related Genes
MYH6Protein interaction99%GSCProtein interaction86%GATA6Protein interaction82%PHF13Protein interaction81%DNASE1L2Protein interaction81%SLC25A21Protein interaction81%
Tissue Expression6 tissues
Heart
100%
Liver
0%
Brain
0%
Lung
0%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
TBX20MYH6GSCGATA6PHF13DNASE1L2SLC25A21
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9UMR3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.38Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.21 [0.12–0.38]
RankingsWhere TBX20 stands among ~20K protein-coding genes
  • #8,505of 20,598
    Most Researched53
  • #1,411of 5,498
    Most Pathogenic Variants46
  • #1,812of 17,882
    Most Constrained (LOEUF)0.38 Β· top quartile
Genes detectedTBX20
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Human Genetics of Ventricular Septal Defect.
PMID: 38884729
Adv Exp Med Biol Β· 2024
1.00
2
TBX20 Improves Contractility and Mitochondrial Function During Direct Human Cardiac Reprogramming.
PMID: 36102189
Circulation Β· 2022
0.90
3
Genetic and functional variants of the TBX20 gene promoter in dilated cardiomyopathy.
PMID: 38284443
Mol Genet Genomic Med Β· 2024
0.80
4
Tbx20 controls the expression of the KCNH2 gene and of hERG channels.
PMID: 28049825
Proc Natl Acad Sci U S A Β· 2017
0.70
5
Genetic Basis of Severe Childhood-OnsetΒ Cardiomyopathies.
PMID: 30384889
J Am Coll Cardiol Β· 2018
0.60