Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
orofacial cleft
Marfan syndrome-like disorder |
| gptkbp:encodes |
transforming growth factor beta-3 protein
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000119699
7043 |
| gptkbp:expressedIn |
various tissues
|
| gptkbp:function |
regulation of cell differentiation
regulation of cell proliferation regulation of embryogenesis regulation of wound healing |
| gptkbp:HGNC_ID |
11768
|
| https://www.w3.org/2000/01/rdf-schema#label |
TGFB3 gene
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_14
14q24 |
| gptkbp:memberOf |
gptkb:TGF-beta_superfamily
|
| gptkbp:mutationAssociatedWith |
developmental disorders
|
| gptkbp:OMIM |
190230
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:product |
TGF-beta 3
|
| gptkbp:regulates |
apoptosis
immune response extracellular matrix production |
| gptkbp:UniProtID |
P10600
|
| gptkbp:bfsParent |
gptkb:Loeys-Dietz_syndrome
|
| gptkbp:bfsLayer |
7
|