InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HSPG2

Summary

InnateDB Protein

IDBP-93441.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HSPG2

Protein Name

heparan sulfate proteoglycan 2

Synonyms

HSPG; PLC; PRCAN; SJA; SJS; SJS1;

Species

Homo sapiens

Ensembl Protein

ENSP00000363827

InnateDB Gene

IDBG-93439 (HSPG2)

Protein Structure

UniProt Annotation

Function

Integral component of basement membranes. Component of the glomerular basement membrane (GBM), responsible for the fixed negative electrostatic membrane charge, and which provides a barrier which is both size- and charge-selective. It serves as an attachment substrate for cells. Plays essential roles in vascularization. Critical for normal heart development and for regulating the vascular response to injury. Also required for avascular cartilage development.Endorepellin in an anti-angiogenic and anti-tumor peptide that inhibits endothelial cell migration, collagen-induced endothelial tube morphogenesis and blood vessel growth in the chorioallantoic membrane. Blocks endothelial cell adhesion to fibronectin and type I collagen. Anti-tumor agent in neovascularization. Interaction with its ligand, integrin alpha2/beta1, is required for the anti-angiogenic properties. Evokes a reduction in phosphorylation of receptor tyrosine kinases via alpha2/beta1 integrin-mediated activation of the tyrosine phosphatase, PTPN6.The LG3 peptide has anti-angiogenic properties that require binding of calcium ions for full activity.

Subcellular Localization

Secreted, extracellular space, extracellular matrix, basement membrane.

Disease Associations

Schwartz-Jampel syndrome (SJS1) [MIM:255800]: Rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal dysplasia, resulting in reduced stature, kyphoscoliosis, bowing of the diaphyses and irregular epiphyses. {ECO:0000269PubMed:11101850}. Note=The disease is caused by mutations affecting the gene represented in this entry.Dyssegmental dysplasia Silverman-Handmaker type (DDSH) [MIM:224410]: The dyssegmental dysplasias are rare, autosomal recessive skeletal dysplasias with anisospondyly and micromelia. There are two recognized types: the severe, lethal DDSH and the milder Rolland-Desbuquois form. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocoele. The endochondral growth plate is short, the calcospherites (which are spherical calcium- phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage. {ECO:0000269PubMed:11279527}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Found in the basement membranes.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 30 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	30 [view]
Protein-Protein	28 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	2 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0008022	protein C-terminus binding
GO:0046872	metal ion binding

Biological Process

GO:0001523	retinoid metabolic process
GO:0001525	angiogenesis
GO:0001958	endochondral ossification
GO:0002062	chondrocyte differentiation
GO:0005975	carbohydrate metabolic process
GO:0006024	glycosaminoglycan biosynthetic process
GO:0006027	glycosaminoglycan catabolic process
GO:0007420	brain development
GO:0007603	phototransduction, visible light
GO:0008104	protein localization
GO:0022617	extracellular matrix disassembly
GO:0030198	extracellular matrix organization
GO:0030203	glycosaminoglycan metabolic process
GO:0030204	chondroitin sulfate metabolic process
GO:0042157	lipoprotein metabolic process
GO:0044281	small molecule metabolic process
GO:0048704	embryonic skeletal system morphogenesis
GO:0048738	cardiac muscle tissue development
GO:0060351	cartilage development involved in endochondral bone morphogenesis

Cellular Component

GO:0005576	extracellular region
GO:0005578	proteinaceous extracellular matrix
GO:0005604	basement membrane
GO:0005605	basal lamina
GO:0005615	extracellular space
GO:0005796	Golgi lumen
GO:0005886	plasma membrane
GO:0031012	extracellular matrix
GO:0043202	lysosomal lumen
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000034 Laminin B type IV
IPR000082 SEA domain
IPR000742 Epidermal growth factor-like domain
IPR001791 Laminin G domain
IPR001881 EGF-like calcium-binding domain
IPR002049 EGF-like, laminin
IPR002172 Low-density lipoprotein (LDL) receptor class A repeat
IPR003596 Immunoglobulin V-set, subgroup
IPR003598 Immunoglobulin subtype 2
IPR003599 Immunoglobulin subtype
IPR007110 Immunoglobulin-like domain
IPR008985 Concanavalin A-like lectin/glucanases superfamily
IPR013098 Immunoglobulin I-set
IPR013151 Immunoglobulin
IPR018031 Laminin B, subgroup

PFAM