Statements (29)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alias |
gptkb:SBB2
gptkb:ectodermal_dysplasia,_acromelic gptkb:FBN |
gptkbp:approvalYear |
1989-12-05
|
gptkbp:approvedBy |
gptkb:fibrillin_1
|
gptkbp:approvedSymbol |
gptkb:FBN1
|
gptkbp:associatedWith |
gptkb:Ectopia_lentis
gptkb:Familial_thoracic_aortic_aneurysm gptkb:Weill-Marchesani_syndrome gptkb:Marfan_syndrome |
gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000166147
2200 |
gptkbp:function |
regulation of TGF-beta signaling
structural component of microfibrils |
https://www.w3.org/2000/01/rdf-schema#label |
HGNC:5344
|
gptkbp:locatedOnChromosome |
15
|
gptkbp:location |
extracellular matrix
|
gptkbp:locusType |
gene with protein product
15q21.1 |
gptkbp:OMIM |
134797
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:proteinFamily |
gptkb:fibrillins
|
gptkbp:RefSeq |
NM_000138
|
gptkbp:symbol |
approved
|
gptkbp:UniProtID |
gptkb:P35555
|
gptkbp:bfsParent |
gptkb:ICAM-1
gptkb:ICAM1 |
gptkbp:bfsLayer |
7
|