heparan sulfate proteoglycan 2

Summary
Gene Symbol
  • HSPG2
Aliases
  • PRCAN
  • endorepellin
  • perlecan
  • perlecan proteoglycan
Organism
Homo sapiens (human)
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
OrthoDB (Group)
Group level
Eukaryota
Group Name
Basement membrane-specific heparan sulfate proteoglycan core protein
Functional Category
  • G: Carbohydrate transport and metabolism
  • M: Cell wall/membrane/envelope biogenesis
  • O: Posttranslational modification, protein turnover, chaperones
KEGG BRITE Database
Orthology
K06255
Name
basement membrane-specific heparan sulfate proteoglycan core protein
References
Disease
The Human Phenotype Ontology
Displaying entries 231 - 240 of 248 in total
HPO ID HPO Term
HP:0011120 Concave nasal ridge
HP:0011228 Horizontal eyebrow
HP:0011463 Childhood onset
HP:0011675 Arrhythmia
HP:0011800 Midface retrusion
HP:0012368 Flat face
HP:0012544 Elevated circulating aldolase concentration
HP:0012733 Macule
HP:0030680 Abnormal cardiovascular system morphology
HP:0100284 EMG: myotonic discharges
Displaying all 5 entries
Disease ID Disease Name
ORPHA:1606
  • chromosome 1p36 deletion syndrome
OMIM:224410
  • Silverman-Handmaker type dyssegmental dysplasia
ORPHA:800
  • Schwartz-Jampel syndrome
OMIM:255800
  • Schwartz-Jampel syndrome type 1
ORPHA:1865
  • 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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