heparan sulfate proteoglycan 2

Summary
Gene Symbol
  • HSPG2
Aliases
  • PRCAN
  • endorepellin
  • perlecan
  • perlecan proteoglycan
Organism
Homo sapiens (human)
External Links
NCBI Gene
3339
HGNC
5273
KEGG Gene ID
hsa:3339
PubChem
3339
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Angiogenesis
  • Basement membrane
  • Calcium
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • EGF-like domain
  • Heparan sulfate
  • Immunoglobulin domain
  • Laminin EGF-like domain
  • Metal-binding
  • Reference proteome
  • Repeat
  • Signal
Proteins
Displaying 1 entry
UniProt Protein Name
P98160
  • Perlecan
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K06255
Name
basement membrane-specific heparan sulfate proteoglycan core protein
References
Disease
Disease Ontology
Displaying entries 11 - 20 of 344 in total
DO ID Disease Name Source
DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2
DOID:0050841 focal hand dystonia
DOID:0050865 tongue squamous cell carcinoma
DOID:0050894 ameloblastoma
DOID:0060160 childhood spinal muscular atrophy
DOID:0060224 atrial fibrillation
DOID:0060249 scoliosis
DOID:0060254 Robinow syndrome
DOID:0060270 pontocerebellar hypoplasia type 2D
DOID:0060276 pontocerebellar hypoplasia type 7
The Human Phenotype Ontology
Displaying entries 31 - 40 of 248 in total
HPO ID HPO Term
HP:0000347 Micrognathia
HP:0000358 Posteriorly rotated ears
HP:0000368 Low-set, posteriorly rotated ears
HP:0000369 Low-set ears
HP:0000396 Overfolded helix
HP:0000405 Conductive hearing impairment
HP:0000407 Sensorineural hearing impairment
HP:0000426 Prominent nasal bridge
HP:0000431 Wide nasal bridge
HP:0000457 Depressed nasal ridge
Displaying all 5 entries
Disease ID Disease Name
ORPHA:1606
  • chromosome 1p36 deletion syndrome
ORPHA:800
  • Schwartz-Jampel syndrome
ORPHA:1865
  • Silverman-Handmaker type dyssegmental dysplasia
OMIM:255800
  • Schwartz-Jampel syndrome type 1
OMIM:224410
  • Silverman-Handmaker type dyssegmental dysplasia

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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