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 21 - 30 of 344 in total
DO ID Disease Name Source
DOID:0060277 pontocerebellar hypoplasia type 8
DOID:0060278 pontocerebellar hypoplasia type 9
DOID:0060287 cornea plana
DOID:0060318 acute promyelocytic leukemia
DOID:0060467 humeroradial synostosis
DOID:0060469 Miller-Dieker lissencephaly syndrome
DOID:0060578 Noonan syndrome 1
DOID:0060580 Noonan syndrome 2
DOID:0060581 Noonan syndrome 3
DOID:0060582 Noonan syndrome 4
The Human Phenotype Ontology
Displaying entries 1 - 10 of 248 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000023 Inguinal hernia
HP:0000028 Cryptorchidism
HP:0000047 Hypospadias
HP:0000055 Abnormal female external genitalia morphology
HP:0000069 Abnormality of the ureter
HP:0000077 Abnormality of the kidney
HP:0000079 Abnormality of the urinary system
HP:0000107 Renal cyst
HP:0000119 Abnormality of the genitourinary system
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