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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 nameGene Name - the full gene name approved by the HGNC.
T-box transcription factor 20
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TBX20
SynonymsGene synonyms aliases
ASD4
ChromosomeChromosome number
7
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p14.2
SummarySummary 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. 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]
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT453704 hsa-miR-1273e PAR-CLIP 23592263
MIRT453705 hsa-miR-139-3p PAR-CLIP 23592263
MIRT453705 hsa-miR-139-3p PAR-CLIP 27292025
MIRT453706 hsa-miR-4722-5p PAR-CLIP 23592263
MIRT453707 hsa-miR-1827 PAR-CLIP 23592263
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
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 IDsOther 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
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
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Atrial septal defect Atrial Septal Defect 4, Atrial septal defect, ostium secundum type rs137852951, rs137852953, rs137852955, rs267607106, rs-1, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125 17668378, 19762328
Wolff-parkinson-white syndrome Wolff-Parkinson-White Syndrome rs111033205, rs121908987, rs3218716, rs199472712, rs869312065, rs1554284604, rs1553197939, rs1553624186, rs1553631968, rs1555100687, rs1555418832
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 29212778
Myocardial infarction Myocardial Failure rs12316150, rs41303970, rs909253, rs7291467, rs2234693 29394407
Unknown
Disease name Disease term dbSNP ID References
Heart failure Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided rs121918074, rs142027794, rs148791216, rs72648927, rs71578935, rs142416150, rs199830512, rs755445214, rs150102469, rs779568205, rs907992794, rs1202130741 29394407
Congestive heart failure Congestive heart failure rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569 29394407
Hypoplastic heart syndrome Right hypoplastic heart syndrome
Secundum atrial septal defect Ostium secundum atrial septal defect 19762328

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