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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 is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted for this gene. [provided by RefSeq, Jul 2008]
TBX2 (T-Box Transcription Factor 2) is a Protein Coding gene. Diseases associated with TBX2 include Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction and Ulnar-Mammary Syndrome. Among its related pathways are Heart Development and Inhibition of Ribosome Biogenesis by p14(ARF). Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is TBX3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA | 21873635 |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 11111039 |
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:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IDA | 11111039 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IEA,IDA | 15042700 |
GO:0005667 | transcription factor complex | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Inhibition of Ribosome Biogenesis by p14(ARF) |
Inhibition of Ribosome Biogenesis by p14(ARF)
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|
|
2 | Heart Development | ||
3 | Kit receptor signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 11111039 |
GO:0001708 | cell fate specification | IBA | 21873635 |
GO:0001947 | heart looping | ISS | -- |
GO:0003007 | heart morphogenesis | IEA | -- |
GO:0003148 | outflow tract septum morphogenesis | ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Atenolol | Approved | Pharma | Antagonist | 114 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||
SP3: | |||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TBX2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TBX2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TBX2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tbx2 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TBX2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TBX2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TBX2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tbx2 30 |
|
||
Str.9437 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68420 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tbx2a 31 |
|
OneToMany | |
tbx2b 30 31 |
|
OneToMany | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2629 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | org-1 32 |
|
|
|
Doc2 32 |
|
|
|||
Doc3 32 |
|
|
|||
Doc1 32 |
|
|
|||
bi 31 32 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | tbx-2 31 32 |
|
OneToMany | |
tbx-9 32 |
|
|
|||
tbx-8 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.7740 30 |
|
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708559 | Benign: not provided | 61,408,140(+) | C/G | SYNONYMOUS_VARIANT | |
714114 | Likely Benign: not provided | 61,408,167(+) | C/A | SYNONYMOUS_VARIANT | |
716229 | Likely Benign: not provided | 61,405,841(+) | G/A | INTRON_VARIANT | |
717066 | Likely Benign: not provided | 61,400,500(+) | G/C | SYNONYMOUS_VARIANT | |
717962 | Likely Benign: not provided | 61,405,710(+) | C/T | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
vertebral anomalies and variable endocrine and t-cell dysfunction |
|
|
ulnar-mammary syndrome |
|
|
pulmonary valve stenosis |
|
|
double outlet right ventricle |
|
|
chromosome 17q23.1-q23.2 deletion syndrome |
|
|