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 341 - 344 of 344 in total
DO ID Disease Name Source
DOID:9884 muscular dystrophy
DOID:9965 toxoplasmosis
DOID:9970 obesity
DOID:999 hypereosinophilic syndrome
The Human Phenotype Ontology
Displaying entries 211 - 220 of 248 in total
HPO ID HPO Term
HP:0006499 Abnormal femoral epiphysis morphology
HP:0006824 Cranial nerve paralysis
HP:0007018 Attention deficit hyperactivity disorder
HP:0007740 Long eyelashes in irregular rows
HP:0008056 Aplasia/Hypoplasia affecting the eye
HP:0008066 Abnormal blistering of the skin
HP:0008499 High hypermetropia
HP:0008551 Microtia
HP:0008734 Decreased testicular size
HP:0008736 Hypoplasia of penis
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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