HGNC:5233

URI: https://gptkb.org/entity/HGNC:5233

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:gene
gptkbp:alias	gptkb:SBB2 gptkb:FBN gptkb:MFS1 ECTOL1 FBN1A FBN1B FBN1C FBN1D FBN1E FBN1F FBN1G FBN1H FBN1I FBN1J FBN1K FBN1L FBN1M FBN1N FBN1O FBN1P FBN1Q FBN1R FBN1S FBN1T FBN1U FBN1V FBN1W FBN1X FBN1Y FBN1Z
gptkbp:approvedBy	gptkb:fibrillin_1
gptkbp:approvedSymbol	gptkb:FBN1
gptkbp:associatedWith	gptkb:Ectopia_lentis gptkb:Marfan_syndrome gptkb:Shprintzen-Goldberg_syndrome Acromicric dysplasia Weill-Marchesani syndrome 2 Geleophysic dysplasia 2
gptkbp:Entrez_Gene_ID	gptkb:ENSG00000166147 2200
gptkbp:geneProduct	gptkb:fibrillin-1
gptkbp:HGNC_ID	5233
gptkbp:locatedOnChromosome	15 15q21.1
gptkbp:location	15q21.1
gptkbp:locusType	gptkb:gene gene with protein product
gptkbp:OMIM	134797
gptkbp:previousName	fibrillin
gptkbp:previousSymbols	gptkb:SBB2
gptkbp:proteinFamily	gptkb:fibrillin_family
gptkbp:RefSeq	NM_000138
gptkbp:species	gptkb:Homo_sapiens
gptkbp:UniProtID	gptkb:P35555
gptkbp:bfsParent	gptkb:HSPA1B
gptkbp:bfsLayer	8
http://www.w3.org/2000/01/rdf-schema#label	HGNC:5233