Statements (34)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
HREB
HTF4 bHLHb20 |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
neurodevelopmental disorders
craniosynostosis |
| gptkbp:discoveredIn |
1991
|
| gptkbp:encodes |
Transcription factor 12 protein
|
| gptkbp:Entrez_Gene_ID |
6938
ENSG00000111046 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
brain various tissues |
| gptkbp:fullName |
Transcription factor 12
|
| gptkbp:function |
transcription factor
regulation of gene expression DNA binding |
| gptkbp:HGNC_ID |
11641
|
| https://www.w3.org/2000/01/rdf-schema#label |
TCF12
|
| gptkbp:interactsWith |
gptkb:HEB
gptkb:E2A gptkb:Id_proteins |
| gptkbp:locatedOnChromosome |
15q21.3
|
| gptkbp:mutationAssociatedWith |
craniosynostosis type 3
|
| gptkbp:OMIM |
600480
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Tcf12
|
| gptkbp:proteinFamily |
gptkb:basic_helix-loop-helix_(bHLH)_family
|
| gptkbp:regulates |
E-box binding
|
| gptkbp:UniProtID |
Q99081
|
| gptkbp:bfsParent |
gptkb:E-protein_family
gptkb:E_proteins |
| gptkbp:bfsLayer |
7
|