Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
congenital scoliosis
spondylocostal dysostosis |
| gptkbp:encodes |
gptkb:T-box_transcription_factor_TBX6
|
| gptkbp:Entrez_Gene_ID |
ENSG00000112319
6941 |
| gptkbp:expressedIn |
paraxial mesoderm
|
| gptkbp:fullName |
gptkb:T-box_transcription_factor_TBX6
|
| gptkbp:function |
gptkb:transcription_factor
|
| gptkbp:HGNC_ID |
HGNC:11599
|
| gptkbp:involvedIn |
mesoderm development
somite formation |
| gptkbp:locatedOnChromosome |
gptkb:16p11.2
|
| gptkbp:mutationAssociatedWith |
vertebral segmentation defects
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Tbx6
|
| gptkbp:proteinFamily |
gptkb:T-box_family
|
| gptkbp:regulates |
DNA binding
|
| gptkbp:UniProtID |
O43435
|
| gptkbp:bfsParent |
gptkb:16p11.2
|
| gptkbp:bfsLayer |
6
|
| https://www.w3.org/2000/01/rdf-schema#label |
TBX6
|