Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:approvedBy |
gptkb:fibrillin_1
|
| gptkbp:approvedSymbol |
gptkb:FBN1
|
| gptkbp:associatedWith |
gptkb:Weill-Marchesani_syndrome
gptkb:Marfan_syndrome Acromicric dysplasia Geleophysic dysplasia |
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000166147
2200 |
| gptkbp:gene_symbol_alias |
gptkb:SBB2
gptkb:FBN ectodermal dysplasia, tall stature, and onychodysplasia |
| gptkbp:geneType |
protein coding
|
| gptkbp:has_protein_product |
gptkb:fibrillin-1
|
| gptkbp:HGNC_ID |
4142
|
| https://www.w3.org/2000/01/rdf-schema#label |
HGNC:4142
|
| gptkbp:locatedOnChromosome |
15
15q21.1 |
| gptkbp:location |
gptkb:nucleus
extracellular matrix |
| gptkbp:locusType |
gene with protein product
|
| gptkbp:OMIM |
134797
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:partOf |
extracellular matrix microfibrils
|
| gptkbp:previousSymbols |
gptkb:SBB2
|
| gptkbp:proteinFamily |
gptkb:fibrillin_family
|
| gptkbp:RefSeq |
NM_000138
NP_000129 |
| gptkbp:symbol_status |
approved
|
| gptkbp:UniProtID |
gptkb:P35555
|
| gptkbp:bfsParent |
gptkb:GABRB2_gene
|
| gptkbp:bfsLayer |
7
|