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 161 - 170 of 344 in total
DO ID Disease Name Source
DOID:11830 myopia
DOID:11836 clubfoot
DOID:1184 nephrotic syndrome
DOID:11870 Pick's disease
DOID:11983 Prader-Willi syndrome
DOID:11996 spermatic cord torsion
DOID:12144 low compliance bladder
DOID:12309 urticaria pigmentosa
DOID:12351 alcoholic hepatitis
DOID:12376 juvenile spinal muscular atrophy
The Human Phenotype Ontology
Displaying entries 151 - 160 of 248 in total
HPO ID HPO Term
HP:0002486 Myotonia
HP:0002515 Waddling gait
HP:0002591 Polyphagia
HP:0002645 Wormian bones
HP:0002650 Scoliosis
HP:0002652 Skeletal dysplasia
HP:0002673 Coxa valga
HP:0002715 Abnormality of the immune system
HP:0002750 Delayed skeletal maturation
HP:0002751 Kyphoscoliosis
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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Last updated: August 19, 2024