Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
Holt-Oram syndrome
|
| gptkbp:discoveredBy |
Bruneau BG et al.
|
| gptkbp:encodes |
T-box transcription factor TBX5
|
| gptkbp:Entrez_Gene_ID |
6910
|
| gptkbp:expressedIn |
heart
forelimb |
| gptkbp:firstDescribed |
1999
|
| gptkbp:function |
transcription factor
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:11599
|
| https://www.w3.org/2000/01/rdf-schema#label |
TBX5
|
| gptkbp:interactsWith |
gptkb:NKX2-5
gptkb:GATA4 |
| gptkbp:length |
518 amino acids (protein)
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_12
12q24.21 |
| gptkbp:mutationAssociatedWith |
congenital heart defects
limb malformations |
| gptkbp:OMIM |
601620
|
| gptkbp:orthologInMouse |
Tbx5
|
| gptkbp:partOf |
T-box gene family
|
| gptkbp:product |
T-box transcription factor TBX5
|
| gptkbp:regulates |
gptkb:NPPA
gptkb:MYH7 heart development MYH6 upper limb development |
| gptkbp:UniProtID |
Q99593
|
| gptkbp:bfsParent |
gptkb:Familial_atrial_fibrillation
gptkb:NKX2-5 |
| gptkbp:bfsLayer |
7
|