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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
Annotation information from UniProt.
Gene Ontology (GO)
Displaying entry 16 - 16 of 16 in total
GO Term Evidence Code PMID
cell differentiation
GO Hierarchy
Gene Ontology information from NCBI Gene and UniProt.
KEGG BRITE Database
Orthology
K06255
Name
basement membrane-specific heparan sulfate proteoglycan core protein
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 344 in total
DO ID Disease Name Source
DOID:0050185 erythema multiforme
DOID:0050426 Stevens-Johnson syndrome
DOID:0050453 lissencephaly
DOID:0050569 Seckel syndrome
DOID:0050663 Bethlem myopathy
DOID:0050741 alcohol dependence
DOID:0050759 myotonic dystrophy type 2
DOID:0050766 choreaacanthocytosis
DOID:0050777 Joubert syndrome
DOID:0050788 proximal symphalangism
The Human Phenotype Ontology
Displaying entries 181 - 190 of 248 in total
HPO ID HPO Term
HP:0003236 Elevated circulating creatine kinase concentration
HP:0003273 Hip contracture
HP:0003306 Spinal rigidity
HP:0003307 Hyperlordosis
HP:0003326 Myalgia
HP:0003416 Spinal canal stenosis
HP:0003417 Coronal cleft vertebrae
HP:0003457 EMG abnormality
HP:0003510 Severe short stature
HP:0003552 Muscle stiffness
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
PubChem Disease
GHR Health Conditions
MedGen Diseases
OMIM Phenotypes
KEGG Diseases
Gene-Disease-Co-Occurrences-in-Literature (PubChem)
Ortholog
Displaying entries 11 - 20 of 58 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
100413695 CALJA40259
105595111 CERAT06438
102145976 MACFA23284
707213 MACMU21981
105494393 MACNE01420
101006455 PAPAN17536
101138254 GORGO17797
100969025 PANPA00536
100613114 PANTR20189
129056643 PONAB17017
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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