TBX20 (T-box transcription factor 20)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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57057 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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TBX20 |
SynonymsGene synonyms aliases
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ASD4 |
ChromosomeChromosome number
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7 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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7p14.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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. |
SNPsSNP information provided by dbSNP.
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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 |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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 |
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Sequence |
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Sequence length |
447 |
Interactions |
View interactions |
Associated diseases
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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, 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 |
Coronary artery disease |
Coronary Artery Disease |
rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 |
29212778 |
Hypoplastic left heart syndrome |
Hypoplastic Left Heart Syndrome |
rs1554284604, rs1843006535 |
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Myocardial infarction |
Myocardial Failure |
rs12316150, rs41303970, rs909253, rs7291467, rs2234693 |
29394407 |
Wolff-parkinson-white syndrome |
Wolff-Parkinson-White Syndrome |
rs111033205, rs121908987, rs3218716, rs199472712, rs869312065, rs1554284604, rs1553197939, rs1553624186, rs1553631968, rs1555100687, rs1555418832 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Congestive heart failure |
Congestive heart failure |
rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569 |
29394407 |
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 |
Hypoplastic heart syndrome |
Right hypoplastic heart syndrome |
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Secundum atrial septal defect |
Ostium secundum atrial septal defect |
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19762328 |
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