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 91 - 100 of 344 in total
DO ID Disease Name Source
DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U
DOID:0110296 autosomal recessive limb-girdle muscular dystrophy type 2M
DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K
DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N
DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I
DOID:0110300 obsolete autosomal dominant limb-girdle muscular dystrophy type 1A
DOID:0110301 obsolete autosomal dominant limb-girdle muscular dystrophy type 1B
DOID:0110302 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C
DOID:0110303 autosomal dominant limb-girdle muscular dystrophy type 1H
DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2
The Human Phenotype Ontology
Displaying entries 201 - 210 of 248 in total
HPO ID HPO Term
HP:0004378 Abnormality of the anus
HP:0005113 Aortic arch aneurysm
HP:0005257 Thoracic hypoplasia
HP:0005268 Miscarriage
HP:0005280 Depressed nasal bridge
HP:0005622 Broad long bones
HP:0005830 Flexion contracture of toe
HP:0005930 Abnormal epiphysis morphology
HP:0006473 Anterior bowing of long bones
HP:0006487 Bowing of the long bones
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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