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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. 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]
TBX20 (T-Box Transcription Factor 20) is a Protein Coding gene. Diseases associated with TBX20 include Atrial Septal Defect 4 and Hypoplastic Left Heart Syndrome. Among its related pathways are Heart Development and Cardiac Progenitor Differentiation. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II transcription factor binding. An important paralog of this gene is TBX18.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH07J035248 | Promoter/Enhancer | 1.8 | VISTA EPDnew Ensembl ENCODE dbSUPER | 606 | +0.5 | 544 | 10.1 | ZNF692 PRDM1 ZIC2 POLR2A ZNF501 EZH2 ELF4 ZNF600 ZNF341 ZNF561 | TBX20 DPY19L1 ENSG00000226063 RF00017-6115 piR-43105-602 | |
GH07J035246 | Enhancer | 0.4 | FANTOM5 Ensembl | 9.8 | +7.9 | 7897 | 0.4 | TBX20 RF00017-6115 piR-43105-602 DPY19L1 | ||
GH07J035222 | Enhancer | 0.3 | dbSUPER | 12.2 | +30.9 | 30939 | 1.6 | ZNF687 | TBX20 piR-43105-602 RF00017-6115 DPY19L1 | |
GH07J035241 | Enhancer | 0.6 | Ensembl dbSUPER | 5.7 | +12.0 | 11950 | 0.5 | CTCF RAD21 TRIM22 | DPY19L1 TBX20 piR-43105-602 RF00017-6115 | |
GH07J035259 | Enhancer | 0.5 | dbSUPER | 5.9 | -7.2 | -7203 | 2.7 | KDM1A EZH2 CTCF USF1 YY1 | ENSG00000226063 TBX20 RF00017-6115 HERPUD2 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IEA,IDA | 19762328 |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IEA,ISM | 19274049 |
GO:0001085 | RNA polymerase II transcription factor binding | IEA,ISS | -- |
GO:0001102 | RNA polymerase II activating transcription factor binding | IEA,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA,ISS | -- |
GO:0005737 | cytoplasm | IEA,ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cardiac Progenitor Differentiation | ||
2 | Heart Development |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA,ISS | -- |
GO:0001569 | branching involved in blood vessel morphogenesis | IEA | -- |
GO:0001570 | vasculogenesis | IBA | 21873635 |
GO:0001706 | endoderm formation | ISS | -- |
GO:0001708 | cell fate specification | IBA | 21873635 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TBX20 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TBX20 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TBX20 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TBX20 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TBX20 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tbx20 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TBX20 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TBX20 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tbx20 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | tbx20-A 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tbx20 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | org-1 32 |
|
|
|
CG6634 32 |
|
|
|||
nmr 32 |
|
|
|||
Doc3 32 |
|
|
|||
Doc1 32 |
|
|
|||
Doc2 32 |
|
|
|||
mid 31 |
|
OneToMany | |||
H15 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | mab-9 31 32 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
691821 | Uncertain Significance: Primary dilated cardiomyopathy | 35,250,123(-) | C/T | MISSENSE_VARIANT | |
691824 | Uncertain Significance: Primary dilated cardiomyopathy | 35,204,479(-) | G/A | MISSENSE_VARIANT | |
762597 | Likely Benign: not provided | 35,240,897(-) | A/G | SYNONYMOUS_VARIANT | |
802304 | Uncertain Significance: Atrial septal defect 4 | 35,245,065(-) | A/T | INTRON_VARIANT | |
rs1057524359 | Uncertain Significance: not provided | 35,244,971(-) | T/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1280e214 | CNV | gain | 21293372 |
nsv981451 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
atrial septal defect 4 |
|
|
hypoplastic left heart syndrome |
|
|
hypoplastic right heart syndrome |
|
|
wolff-parkinson-white syndrome |
|
|
patent foramen ovale |
|
|