TBX20 (T-box transcription factor 20)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57057
Gene name Gene Name - the full gene name approved by the HGNC.
T-box transcription factor 20
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TBX20
Synonyms (NCBI Gene) Gene synonyms aliases
ASD4
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p14.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs137852954 G>A,C,T Pathogenic Missense variant, synonymous variant, coding sequence variant, 5 prime UTR variant
rs137852955 G>A Pathogenic Stop gained, coding sequence variant, 5 prime UTR variant
rs267607106 G>C Pathogenic Missense variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs1554284604 G>- Pathogenic Genic downstream transcript variant, coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(102)
miRTarBase ID miRNA Experiments Reference
MIRT508673 hsa-miR-1277-5p HITS-CLIP 21572407
MIRT508678 hsa-miR-5700 HITS-CLIP 21572407
MIRT508677 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT508676 hsa-miR-4728-3p HITS-CLIP 21572407
MIRT707848 hsa-miR-3613-3p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(90)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000785 Component Chromatin IBA
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 19762328
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
606061 11598 ENSG00000164532
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9UMR3
Protein name T-box transcription factor TBX20 (T-box protein 20)
Protein 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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00907 T-box 102 → 288 T-box Domain
Sequence 
MEFTASPKPQLSSRANAFSIAALMSSGGSKEKEATENTIKPLEQFVEKSSCAQPLGELTS
LDAHGEFGGGSGSSPSSSSLCTEPLIPTTPIIPSEEMAKIACSLETKELWDKFHELGTEM
IITKSGRRMFPTIRVSFSGVDPEAKYIVLMDIVPVDNKRYRYAYHRSSWLVAGKADPPLP
ARLYVHPDSPFTGEQLLKQMVSFEKVKLTNNELDQHGHIILNSMHKYQPRVHIIKKKDHT
ASLLNLKSEEFRTFIFPETVFTAVTAYQNQLITKLKIDSNPFAKGFRDSSRLTDIERESV
ESLIQKHSYARSPIRTYGGEEDVLGDESQTTPNRGSAFTTSDNLSLSSWVSSSSSFPGFQ
HPQSLTALGTSTASIATPIPHPIQGSLPPYSRLGMPLTPSAIASSMQGSGPTFPSFHMPR
YHHYFQQGPYAAIQGLRHSSAVMTPFV
Sequence length 447
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Aortic valve calcification aortic valve disease 1 rs766692577 N/A
Atrial Septal Defect atrial septal defect 4 rs766692577, rs137852955, rs267607106 N/A
Hypoplastic Left Heart Syndrome hypoplastic left heart syndrome rs1554284604 N/A
Wolff-Parkinson-White Syndrome Wolff-Parkinson-White pattern rs1554284604 N/A
Show/Hide Unknown Diseases (7)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Brugada Syndrome Brugada syndrome N/A N/A GWAS
Cardiomyopathy Primary dilated cardiomyopathy N/A N/A ClinVar
Coronary artery disease Coronary artery disease N/A N/A GWAS
Dementia Dementia N/A N/A GWAS
Show/Hide Text Mining Associations (29)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 27738327
Aortic Aneurysm Thoracic Associate 30820038
Arrhythmias Cardiac Associate 38479330
Baetz Greenwalt syndrome Associate 31204705
Bicuspid Aortic Valve Disease Associate 30820038
Carcinogenesis Inhibit 35348274
Carcinoma Squamous Cell Associate 27738327
Cardiomyopathies Associate 17668378
Cardiomyopathy Dilated Associate 17668378, 28690296, 38479330
Cardiovascular Diseases Associate 30820038