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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
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(47)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 19762328
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal
Disease term Disease name dbSNP ID References
Atrial septal defect Atrial Septal Defect 4, Atrial septal defect, ostium secundum type rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)		 17668378, 19762328
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537 29212778
Hypoplastic left heart syndrome Hypoplastic Left Heart Syndrome rs1554284604, rs1843006535
Wolff-parkinson-white syndrome Wolff-Parkinson-White Syndrome rs111033205, rs121908987, rs3218716, rs199472712, rs869312065, rs1554284604, rs1553197939, rs1553624186, rs1553631968, rs1555100687, rs1555418832
Show/Hide Unknown Diseases (8)
Unknown
Disease term Disease name Evidence References Source
Congestive heart failure Congestive heart failure 29394407 ClinVar
Heart failure Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided 29394407 ClinVar
Myocardial infarction Myocardial Failure 29394407 ClinVar
Myopathy dilated cardiomyopathy GenCC
Show/Hide Text Mining Associations (29)
Associations from Text Mining
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