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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)

Displaying entries **1 - 5** of 18 in total

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GO Term	Evidence Code	PMID
angiogenesis	IEA
response to hypoxia	IEA
positive regulation of endothelial cell proliferation	IEA
lipid metabolic process	TAS	21289173
receptor-mediated endocytosis	ISS

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]

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

negative regulation of nitrogen compound metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of amyloid fibril formation

regulation of nitrogen compound metabolic process [inference]

negative regulation of nitrogen compound 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 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

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 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 nitrogen compound metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of amyloid fibril formation

negative regulation of cellular process [inference]

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 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 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 **6 - 10** of 12 in total

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GO Term	Evidence Code	PMID
plasma membrane	TAS
focal adhesion	HDA	21423176
neuron projection	IBA
lysosomal lumen	TAS
collagen-containing extracellular matrix	HDA	20551380 23658023 23979707 25037231 27559042 28327460 28675934

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

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

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GO Term	Evidence Code	PMID
amyloid-beta binding	IC	21289173
integrin binding	TAS	21126803
calcium ion binding	IEA
protein binding	IPI	11956183 12604605 21596751 23374253
extracellular matrix structural constituent conferring compression resistance	RCA	20551380 23979707 25037231 27559042 28327460 28675934

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

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]

integrin binding

collagen binding [inference]

collagen V binding

Gene Ontology information from NCBI Gene and UniProt.

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

Displaying **all 2** entries
Gene Ontology
calcium ion binding
cell differentiation

Displaying **all 9** entries
InterPro
EGF-like domain
Immunoglobulin I-set
Immunoglobulin subtype 2
Immunoglobulin subtype
Immunoglobulin-like domain superfamily
Immunoglobulin-like domain
Immunoglobulin-like fold
Laminin IV
Laminin-type EGF domain

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:0090005	Schwartz-Jampel syndrome 1	Alliance of Genome Resources
DOID:0090032	Silverman-Handmaker type dyssegmental dysplasia	Alliance of Genome Resources
DOID:2256	osteochondrodysplasia	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
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

PubChem Disease

GHR Health Conditions

Schwartz-Jampel syndrome

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

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

Ortholog

Displaying entries **51 - 57** of 57 in total

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Species	Gene ID	Orthologous MAtrix
Bos indicus x Bos taurus	113879542	BOBOX38086
Vombatus ursinus	114027391	VOMUR26221
Salmo trutta	115165633	SALTR88020
Rhinolophus ferrumequinum	117026763	RHIFE01766
Balaenoptera musculus	118890557	BALMU22335
Panthera leo	122226287	PANLE10175
Pongo abelii	129056643	PONAB17017

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements