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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. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures. [provided by RefSeq, Aug 2008]
TBX6 (T-Box Transcription Factor 6) is a Protein Coding gene. Diseases associated with TBX6 include Spondylocostal Dysostosis 5 and Scoliosis. Among its related pathways are Gene regulatory network modelling somitogenesis and Neural Crest Differentiation. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II activating transcription factor 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 | IEA | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001085 | RNA polymerase II transcription factor binding | ISS | -- |
GO:0001102 | RNA polymerase II activating transcription factor binding | IBA,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | ISS | -- |
GO:0001570 | vasculogenesis | IBA | -- |
GO:0001707 | mesoderm formation | IEA | -- |
GO:0001708 | cell fate specification | IBA | 21873635 |
GO:0001947 | heart looping | IBA | 21873635 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TBX6 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TBX6 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TBX6 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TBX6 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tbx6 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tbx6 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | TBX6 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TBX6 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TBX6 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | tbx6 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Doc1 31 32 |
|
ManyToMany | |
Doc3 31 32 |
|
ManyToMany | |||
Doc2 31 32 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
694403 | Pathogenic: Scoliosis | 30,089,208(-) | C/T | MISSENSE_VARIANT | |
694404 | Likely Pathogenic: Scoliosis | 30,089,140(-) | C/A | MISSENSE_VARIANT | |
694405 | Uncertain Significance: Scoliosis | 30,089,124(-) | T/A | MISSENSE_VARIANT | |
694406 | Pathogenic: Scoliosis | 30,089,088(-) | T/TCCC | INFRAME_INSERTION | |
694407 | Uncertain Significance: Scoliosis | 30,089,065(-) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2758642 | CNV | gain | 17122850 |
nsv1160384 | CNV | duplication | 26073780 |
nsv833187 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spondylocostal dysostosis 5 |
|
|
scoliosis |
|
|
dysostosis |
|
|
spondylocostal dysostosis 3, autosomal recessive |
|
|
spondylocostal dysostosis, autosomal recessive |
|
|