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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

HGNC:5273

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)

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GO Term	Evidence Code	PMID
animal organ regeneration	IEA
brain development		21126803
response to xenobiotic stimulus	IEA
angiogenesis	IEA
positive regulation of endothelial cell proliferation	IEA

GO Hierarchy

biological process

metabolic process [inference]

primary metabolic process [inference]

lipid metabolic process

organic substance metabolic process [inference]

lipid metabolic process

cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

smoothened signaling pathway

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

animal organ development [inference]

system 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]

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]

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 cellular process [inference]

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 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

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]

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

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GO Term	Evidence Code	PMID
extracellular region	HDA TAS	27068509
Golgi lumen
basement membrane		21126803 8621634
plasma membrane
focal adhesion	HDA	21423176

GO Hierarchy

cellular component

protein-containing complex [inference]

membrane protein complex [inference]

plasma membrane protein complex

cellular anatomical entity [inference]

membrane [inference]

plasma membrane

cell junction [inference]

anchoring junction [inference]

cell-substrate junction [inference]

focal adhesion

external encapsulating structure [inference]

extracellular matrix [inference]

collagen-containing extracellular matrix

basement membrane

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

vacuolar lumen [inference]

lysosomal lumen

Golgi lumen

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

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GO Term	Evidence Code	PMID
collagen V binding	IEA

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]

lipoprotein particle receptor binding [inference]

low-density lipoprotein particle receptor binding

amide binding [inference]

peptide binding [inference]

amyloid-beta binding

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

calcium ion binding

protein-containing complex binding [inference]

collagen binding [inference]

collagen V binding

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

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DO ID	Disease Name	Source
DOID:0110295	autosomal recessive limb-girdle muscular dystrophy type 2U	DisGeNET
DOID:0110296	autosomal recessive limb-girdle muscular dystrophy type 2M	DisGeNET
DOID:0110297	autosomal recessive limb-girdle muscular dystrophy type 2K	DisGeNET
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N	DisGeNET
DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I	DisGeNET
DOID:0110300	obsolete autosomal dominant limb-girdle muscular dystrophy type 1A	DisGeNET
DOID:0110301	obsolete autosomal dominant limb-girdle muscular dystrophy type 1B	DisGeNET
DOID:0110302	obsolete autosomal dominant limb-girdle muscular dystrophy type 1C	DisGeNET
DOID:0110303	autosomal dominant limb-girdle muscular dystrophy type 1H	DisGeNET
DOID:0110304	autosomal dominant limb-girdle muscular dystrophy type 2	DisGeNET

The Human Phenotype Ontology

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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: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

Schwartz-Jampel syndrome

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

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

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	175126	WB:WBGene00006787
Drosophila melanogaster	45320	FB:FBgn0284408
Danio rerio	565429	ZFIN:ZDB-GENE-080807-4	DANRE24960
Salmo salar	100380784		SALSA43220
Salmo trutta	115165633		SALTR88020
Poecilia reticulata	103467813		POERE30093
Haplochromis burtoni	102290874		HAPBU05628
Astatotilapia calliptera	113013483		ASTCA20652
Xenopus laevis	108696836	Xenbase:XB-GENE-17341349
Xenopus tropicalis	100494785	Xenbase:XB-GENE-6465357

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements