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 41 - 50 of 344 in total
DO ID Disease Name Source
DOID:0060764 autosomal recessive Robinow syndrome
DOID:0060765 autosomal dominant Robinow syndrome 2
DOID:0060766 autosomal dominant Robinow syndrome 1
DOID:0060767 autosomal dominant Robinow syndrome 3
DOID:0060770 dextro-looped transposition of the great arteries
DOID:0060771 obsolete dextro-looped transposition of the great arteries 1
DOID:0060772 multiple types of congenital heart defects 6
DOID:0060807 syndromic X-linked intellectual disability Najm type
DOID:0080162 lupus nephritis
DOID:0080199 colorectal carcinoma
The Human Phenotype Ontology
Displaying entries 221 - 230 of 248 in total
HPO ID HPO Term
HP:0008872 Feeding difficulties in infancy
HP:0008873 Disproportionate short-limb short stature
HP:0009473 Joint contracture of the hand
HP:0009743 Distichiasis
HP:0009826 Limb undergrowth
HP:0010508 Metatarsus valgus
HP:0010548 Percussion myotonia
HP:0010978 Abnormality of immune system physiology
HP:0011001 Increased bone mineral density
HP:0011069 Supernumerary tooth
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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