|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
perlecan
heparan sulfate proteoglycan 2
|
|
gptkbp:associatedWith
|
Schwartz-Jampel syndrome
dyssegmental dysplasia Silverman-Handmaker type
|
|
gptkbp:discoveredBy
|
Yamada Y et al.
|
|
gptkbp:encodes
|
perlecan
|
|
gptkbp:Entrez_Gene_ID
|
3339
|
|
gptkbp:expressedIn
|
basement membrane
extracellular matrix
|
|
gptkbp:firstDescribed
|
1987
|
|
gptkbp:function
|
involved in cell proliferation
structural component of basement membranes
involved in angiogenesis
involved in cell adhesion
binds growth factors
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
5157
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
HSPG2
|
|
gptkbp:locatedOnChromosome
|
chromosome 1
1p36.12
|
|
gptkbp:molecularWeight
|
~470 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:myotonia
skeletal dysplasia
|
|
gptkbp:OMIM
|
142461
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Hspg2
|
|
gptkbp:product
|
perlecan
|
|
gptkbp:UniProtID
|
P98160
|
|
gptkbp:bfsParent
|
gptkb:1p36_region
|
|
gptkbp:bfsLayer
|
7
|