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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 entries 6 - 10 of 16 in total
GO Term Evidence Code PMID
response to hypoxia
circulatory system development
lipid metabolic process
embryo implantation
inflammatory response
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 331 - 340 of 344 in total
DO ID Disease Name Source
DOID:9246 cerebral amyloid angiopathy
DOID:9256 colorectal cancer
DOID:9351 diabetes mellitus
DOID:9352 type 2 diabetes mellitus
DOID:9452 steatotic liver disease
DOID:9521 Laron syndrome
DOID:971 tendinitis
DOID:9744 type 1 diabetes mellitus
DOID:9827 radioulnar synostosis
DOID:9854 lingual-facial-buccal dyskinesia
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
PubChem Disease
GHR Health Conditions
MedGen Diseases
OMIM Phenotypes
KEGG Diseases
Gene-Disease-Co-Occurrences-in-Literature (PubChem)
Ortholog
Displaying entries 51 - 58 of 58 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
107568451 SINGR94226
111562749 AMPOC12423
109520187 HIPCM19643
105290659 PTEVA10484
105815659 PROCO24009
109055269 CYPCA128260
109056836 CYPCA118331
103265029 CARSF12233
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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