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FLASH GENE

Symbol

HSPG2

contributors: mct/npt - updated : 20-08-2009

HGNC name	heparan sulfate proteoglycan 2
HGNC id	5273

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005529 97 - 14294 NP_005520 467 4391 - Kallunki (1992)

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Endocrine pancreas       highly Lymphoid/Immune spleen       highly Nervous nerve cranial nerve     highly Reproductive male system prostate     highly Skeleton appendicular skeleton joint     highly Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective cartilage     highly

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial cell not specific chondrocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal

Text	prominent component of human fetal (12-14 week) finger, toe, knee, and elbow cartilages; it was localized diffusely in the interterritorial extracellular matrix, densely in the pericellular matrix around chondrocytes, and to small blood vessels in the joint capsules and perichondrium (Melrose 2006)

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four domains homologous to the LDL receptor
	the N terminal region of laminin A and B short arms
	NCAM globular C terminus of the laminin A chain
	22 Ig-like domain
	three laminin G like domains
	glycosaminoglycan-bearing perlecan domain I that supports early chondrogenesis and growth factor delivery (Farach-Carson 2008)
	peptide sequence (TWSKVGGHLRPGIVQSG) from an immunoglobulin (Ig) repeat in domain IV supported rapid cell adhesion, spreading and focal adhesion kinase (FAK) activation (Farach-Carson 2008)
	four EGF-like domains
	one SEA domain
	four EGF-like domains

HOMOLOGY

interspecies

homolog to murine Plc

Homologene

FAMILY

syndecan family

CATEGORY

secretory , structural protein

SUBCELLULAR LOCALIZATION	extracellular
text	basement membrane
	protein of extracellular matrix of cartilage
	strong pericellular localization pattern in postnatal (2-7 month) and mature (55-64 year) femoral cartilages (Melrose 2006)

basic FUNCTION	linking the cytoskeleton to interstitial matrix
	required to inhibit thrombosis after deep vascular injury, contributing to endothelial cell mediated inhibition of intimal hyperplasia
	chains presumably participate in the selective permeability of basement membranes and, additionally, the core protein may be involved in a number of biological functions such as cell binding, LDL-metabolism, basement membrane assembly, calcium binding, and growth- and neurite-promoting activities (Kallunki 1992)
	maintaining cartilage integrity and also regulating muscle excitability
	playing an important role in chondrogenesis and skeletal development, as well as harboring pro- and anti-angiogenic activities
	may be involved in cartilage collagen matrix assembly, and in extracellular matrix assembly
	negatively regulates angiogenesis counter to its proangiogenic parental molecule
	requires both the ITGA2 integrin and KDR for its angiostatic activity
	novel antiangiogenic modality that could supplement established therapies in clinical use or in preclinical stages

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

major component of basement membranes

INTERACTION

DNA

RNA

small molecule

protein	with nidogen (NID,NID2), fibulin 2 (FBLN2), fibronectin (FN1, FN2), FGF7 (activation of its receptor)
	with ECM1
	bind directly and with high affinity to both KDR and FLT1, in a region that differs from VEGFA-binding site

cell & other

REGULATION

inhibited by

TGF beta

ASSOCIATED DISORDERS

corresponding disease(s)

DDSH , SJS1 , DDRD

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Perlecan knock-in mice were developed to model Schwartz-Jampel syndrome (SJS), a skeletal disease resulting from decreased perlecan (Rodgers 2007)