Free for academic non-profit institutions. Other users need a Commercial license
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
TBX1 (T-Box Transcription Factor 1) is a Protein Coding gene. Diseases associated with TBX1 include Digeorge Syndrome and Velocardiofacial Syndrome. Among its related pathways are Heart Development and Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is TBX10.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001102 | RNA polymerase II activating transcription factor binding | IBA | 21873635 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IBA | 21873635 |
GO:0003677 | DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IEA,IDA | 15703190 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | FTO Obesity Variant Mechanism | ||
2 | Heart Development | ||
3 | Mesodermal Commitment Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0001525 | angiogenesis | ISS | -- |
GO:0001568 | blood vessel development | ISS | -- |
GO:0001708 | cell fate specification | ISS | -- |
GO:0001755 | neural crest cell migration | ISS | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TBX1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TBX1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tbx1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tbx1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | TBX1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TBX1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tbx1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.21661 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tbx1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Doc3 32 |
|
|
|
org-1 31 32 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | mls-1 30 |
|
||
mab-9 32 |
|
|
|||
tbx-7 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636939 | Uncertain Significance: not provided | 19,760,992(+) | GCGAGCCCCCGCCGCC | INFRAME_DELETION | |
641093 | Uncertain Significance: DiGeorge sequence | 19,766,455(+) | C/A | MISSENSE_VARIANT,INTRON_VARIANT | |
642145 | Uncertain Significance: DiGeorge sequence | 19,766,720(+) | C/A | MISSENSE_VARIANT,INTRON_VARIANT | |
658031 | Uncertain Significance: DiGeorge sequence | 19,761,056(+) | C/CCCGCCG | INFRAME_INSERTION | |
658243 | Uncertain Significance: DiGeorge sequence | 19,766,632(+) | A/T | MISSENSE_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv725n67 | CNV | gain | 20364138 |
dgv7982n54 | CNV | loss | 21841781 |
dgv7983n54 | CNV | gain | 21841781 |
esv21705 | CNV | loss | 19812545 |
esv2751940 | CNV | gain | 17911159 |
esv3568257 | CNV | loss | 25503493 |
esv3568258 | CNV | loss | 25503493 |
esv3568260 | CNV | loss | 25503493 |
esv3575418 | CNV | gain | 25503493 |
esv3575428 | CNV | gain | 25503493 |
esv3647279 | CNV | gain | 21293372 |
esv3893434 | CNV | gain | 25118596 |
nsv1072619 | CNV | deletion | 25765185 |
nsv1118942 | CNV | deletion | 24896259 |
nsv471181 | CNV | loss | 18288195 |
nsv517478 | CNV | loss | 19592680 |
nsv588216 | CNV | gain | 21841781 |
nsv588231 | CNV | loss | 21841781 |
nsv588232 | CNV | gain | 21841781 |
nsv588235 | CNV | loss | 21841781 |
nsv588236 | CNV | loss | 21841781 |
nsv828938 | CNV | gain | 20364138 |
nsv828939 | CNV | loss | 20364138 |
nsv828943 | CNV | loss | 20364138 |
nsv828946 | CNV | gain | 20364138 |
nsv828947 | CNV | gain | 20364138 |
nsv828948 | CNV | loss | 20364138 |
nsv834128 | CNV | loss | 17160897 |
nsv834129 | CNV | loss | 17160897 |
nsv953023 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
digeorge syndrome |
|
|
velocardiofacial syndrome |
|
|
conotruncal heart malformations |
|
|
tetralogy of fallot |
|
|
chromosome 22q11.2 duplication syndrome |
|
|