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Guidelines

MIRAGE

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

HGNC:5273

JoGo

HSPG2

TogoVar

HSPG2

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
Proteomics identification
Reference proteome
Repeat
Signal

Proteins

Displaying 1 entry
UniProt	Protein Name
P98160	Perlecan

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 23 in total

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GO Term	Evidence Code	PMID
angiogenesis
response to hypoxia
positive regulation of endothelial cell proliferation
lipid metabolic process	TAS
receptor-mediated endocytosis	ISS

GO Hierarchy

biological process

cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

smoothened signaling pathway

metabolic process [inference]

primary metabolic process [inference]

lipid metabolic process

vesicle-mediated transport [inference]

endocytosis [inference]

receptor-mediated endocytosis

cellular developmental process [inference]

cell differentiation

reproductive process [inference]

embryo implantation

developmental process [inference]

anatomical structure formation involved in morphogenesis [inference]

angiogenesis

anatomical structure development [inference]

regeneration [inference]

animal organ regeneration

system development [inference]

circulatory system development

animal gross anatomical part developmental process [inference]

animal organ development [inference]

circulatory system development

cellular developmental process [inference]

cell differentiation

response to stimulus [inference]

response to stress [inference]

response to hypoxia

defense response [inference]

inflammatory response

response to abiotic stimulus [inference]

response to oxygen levels [inference]

response to decreased oxygen levels [inference]

response to hypoxia

response to chemical [inference]

response to xenobiotic stimulus

localization [inference]

macromolecule localization [inference]

intracellular protein localization [inference]

protein localization to cell junction [inference]

protein localization to synapse

establishment of localization [inference]

transport [inference]

vesicle-mediated transport [inference]

endocytosis [inference]

receptor-mediated endocytosis

import into cell [inference]

endocytosis [inference]

receptor-mediated endocytosis

biological regulation [inference]

regulation of biological process [inference]

regulation of signaling [inference]

negative regulation of signaling [inference]

negative regulation of synaptic transmission [inference]

negative regulation of synaptic transmission, cholinergic

regulation of trans-synaptic signaling [inference]

modulation of chemical synaptic transmission [inference]

regulation of synaptic transmission, cholinergic [inference]

negative regulation of synaptic transmission, cholinergic

negative regulation of synaptic transmission [inference]

negative regulation of synaptic transmission, cholinergic

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of cell population proliferation [inference]

positive regulation of epithelial cell proliferation [inference]

positive regulation of endothelial cell proliferation

negative regulation of biological process [inference]

negative regulation of signaling [inference]

negative regulation of synaptic transmission [inference]

negative regulation of synaptic transmission, cholinergic

negative regulation of cellular process [inference]

negative regulation of metabolic process [inference]

negative regulation of macromolecule metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of amyloid fibril formation

negative regulation of cell communication [inference]

negative regulation of synaptic transmission [inference]

negative regulation of synaptic transmission, cholinergic

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process [inference]

negative regulation of neuron apoptotic process

negative regulation of cellular component organization [inference]

negative regulation of supramolecular fiber organization [inference]

negative regulation of amyloid fibril formation

negative regulation of developmental process [inference]

negative regulation of vasculature development [inference]

negative regulation of blood vessel morphogenesis [inference]

negative regulation of angiogenesis

negative regulation of multicellular organismal process [inference]

negative regulation of vasculature development [inference]

negative regulation of blood vessel morphogenesis [inference]

negative regulation of angiogenesis

regulation of developmental process [inference]

regulation of anatomical structure morphogenesis [inference]

regulation of angiogenesis [inference]

negative regulation of angiogenesis

negative regulation of blood vessel morphogenesis [inference]

negative regulation of angiogenesis

negative regulation of developmental process [inference]

negative regulation of vasculature development [inference]

negative regulation of blood vessel morphogenesis [inference]

negative regulation of angiogenesis

regulation of multicellular organismal development [inference]

regulation of vasculature development [inference]

regulation of angiogenesis [inference]

negative regulation of angiogenesis

negative regulation of vasculature development [inference]

negative regulation of blood vessel morphogenesis [inference]

negative regulation of angiogenesis

regulation of cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

smoothened signaling pathway

regulation of cell communication [inference]

negative regulation of cell communication [inference]

negative regulation of synaptic transmission [inference]

negative regulation of synaptic transmission, cholinergic

regulation of trans-synaptic signaling [inference]

modulation of chemical synaptic transmission [inference]

regulation of synaptic transmission, cholinergic [inference]

negative regulation of synaptic transmission, cholinergic

negative regulation of synaptic transmission [inference]

negative regulation of synaptic transmission, cholinergic

regulation of metabolic process [inference]

negative regulation of metabolic process [inference]

negative regulation of macromolecule metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of amyloid fibril formation

regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of amyloid fibril formation

regulation of protein metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of amyloid fibril formation

regulation of amyloid fibril formation [inference]

negative regulation of amyloid fibril formation

regulation of primary metabolic process [inference]

regulation of protein metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of amyloid fibril formation

regulation of amyloid fibril formation [inference]

negative regulation of amyloid fibril formation

regulation of cell adhesion [inference]

negative regulation of cell adhesion

regulation of cell population proliferation [inference]

positive regulation of cell population proliferation [inference]

positive regulation of epithelial cell proliferation [inference]

positive regulation of endothelial cell proliferation

negative regulation of cell population proliferation

regulation of epithelial cell proliferation [inference]

regulation of endothelial cell proliferation [inference]

positive regulation of endothelial cell proliferation

positive regulation of epithelial cell proliferation [inference]

positive regulation of endothelial cell proliferation

regulation of programmed cell death [inference]

regulation of apoptotic process [inference]

negative regulation of apoptotic process [inference]

negative regulation of neuron apoptotic process

regulation of neuron apoptotic process [inference]

negative regulation of neuron apoptotic process

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process [inference]

negative regulation of neuron apoptotic process

positive regulation of cellular process [inference]

positive regulation of cell population proliferation [inference]

positive regulation of epithelial cell proliferation [inference]

positive regulation of endothelial cell proliferation

negative regulation of cellular process [inference]

negative regulation of metabolic process [inference]

negative regulation of macromolecule metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of amyloid fibril formation

negative regulation of cell communication [inference]

negative regulation of synaptic transmission [inference]

negative regulation of synaptic transmission, cholinergic

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process [inference]

negative regulation of neuron apoptotic process

negative regulation of cellular component organization [inference]

negative regulation of supramolecular fiber organization [inference]

negative regulation of amyloid fibril formation

regulation of cellular component organization [inference]

negative regulation of cellular component organization [inference]

negative regulation of supramolecular fiber organization [inference]

negative regulation of amyloid fibril formation

regulation of supramolecular fiber organization [inference]

negative regulation of supramolecular fiber organization [inference]

negative regulation of amyloid fibril formation

regulation of amyloid fibril formation [inference]

negative regulation of amyloid fibril formation

regulation of multicellular organismal process [inference]

negative regulation of multicellular organismal process [inference]

negative regulation of vasculature development [inference]

negative regulation of blood vessel morphogenesis [inference]

negative regulation of angiogenesis

regulation of multicellular organismal development [inference]

regulation of vasculature development [inference]

regulation of angiogenesis [inference]

negative regulation of angiogenesis

negative regulation of vasculature development [inference]

negative regulation of blood vessel morphogenesis [inference]

negative regulation of angiogenesis

Displaying entries **1 - 5** of 20 in total

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GO Term	Evidence Code	PMID
microfibril	TAS
extracellular region	EXP
extracellular region	TAS
extracellular region	IEA
extracellular region	HDA

GO Hierarchy

cellular component

protein-containing complex [inference]

membrane protein complex [inference]

plasma membrane protein complex

cellular anatomical structure [inference]

extracellular region

membrane [inference]

plasma membrane

cell junction [inference]

synapse [inference]

neuromuscular junction

anchoring junction [inference]

cell-substrate junction [inference]

focal adhesion

external encapsulating structure [inference]

extracellular matrix

basement membrane

gel phase of basement membrane

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

vacuolar lumen [inference]

lysosomal lumen

Golgi lumen

cell projection [inference]

plasma membrane bounded cell projection [inference]

neuron projection

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

supramolecular complex [inference]

supramolecular polymer [inference]

supramolecular fiber [inference]

microfibril

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GO Term	Evidence Code	PMID
extracellular matrix structural constituent conferring compression resistance	ISS
low-density lipoprotein particle receptor binding	TAS
molecular adaptor activity	ISS
collagen V binding

GO Hierarchy

molecular function

structural molecule activity [inference]

extracellular matrix structural constituent [inference]

extracellular matrix structural constituent conferring compression resistance

binding [inference]

protein binding

signaling receptor binding [inference]

integrin binding

lipoprotein particle receptor binding [inference]

low-density lipoprotein particle receptor binding

cell adhesion molecule binding [inference]

integrin binding

small molecule binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

calcium ion binding

peptide binding [inference]

amyloid-beta binding

protein-containing complex binding [inference]

integrin binding

collagen binding [inference]

collagen V binding

molecular adaptor activity

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 **all 3** entries
DO ID	Disease Name	Source
DOID:0090032	Silverman-Handmaker type dyssegmental dysplasia	Alliance of Genome Resources
DOID:2256	osteochondrodysplasia	Alliance of Genome Resources
DOID:0090005	Schwartz-Jampel syndrome 1	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of **248** in total

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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:1865	Silverman-Handmaker type dyssegmental dysplasia
OMIM:224410	Silverman-Handmaker type dyssegmental dysplasia
ORPHA:800	Schwartz-Jampel syndrome
OMIM:255800	Schwartz-Jampel syndrome type 1
ORPHA:1606	chromosome 1p36 deletion syndrome

PubChem Disease

GHR Health Conditions

Schwartz-Jampel syndrome

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying **all 3** entries
Species	Gene ID	Alliance of Genome Resources
Mus musculus	15530	MGI:96257
Caenorhabditis elegans	175126	WB:WBGene00006787
Drosophila melanogaster	45320	FB:FBgn0284408

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Last updated: April 6, 2026