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 |
transcription factor
|
gptkbp:HGNC_ID |
HGNC:11599
|
https://www.w3.org/2000/01/rdf-schema#label |
TBX6
|
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
|