Heparan Sulfate Proteoglycan of Basement Membrane

Alternative Names

HSPG2
Perlecan
PLC

Length

115,067 bases

No. of Exons

103

No. of isoforms

Protein Name

Basement Membrane-Specific Heparan Sulfate Proteoglycan Core Protein

Molecular Mass

468830 Da

Amino Acid Count

4391

Genomic Location

chr1:21,822,243-21,937,309

Gene Map Locus

1p36.1

Description

HSPG2 encodes perlecan protein. Perlecan is a large heparan sulfate proteoglycan, a major component of the basement membrane and other extracellular matrices. This protein is involved in cell growth and differentiation through interactions with growth factors, cell surface receptors, and extracellular matrix molecules. It participates in the orderly assembly of extracellular matrices and functions as a bioactive reservoir for growth factors by stabilizing them against misfolding or proteolysis. Perlecan has an important role in the maintenance of the glomerular filtration barrier. In addition, Perlecan is a potent inhibitor of smooth muscle cell proliferation and is thus thought to help maintain vascular homeostasis.

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_005529.6:c.4740G>A	Tunisia	chr1:21864100		Likely Pathogenic	Schwartz-Jampel Syndrome, Type 1	NG_016740.1:g.78158G>A; NM_005529.6:c.4740G>A; NP_005520.4:p.Ser1580=
NM_005529.7:c.10894C>T	Arab	NC_000001.11:g.21833551G>A	Pathogenic	Pathogenic	Dyssegmental Dysplasia, Silverman-Handmaker Type	NG_016740.1:g.108707C>T; NM_005529.7:c.10894C>T; NP_005520.4:p.Arg3632Ter	762281715	284213
NM_005529.7:c.11000C>T	Saudi Arabia	NC_000001.11:g.21833363G>A		Likely Pathogenic	Schwartz-Jampel Syndrome, Type 1	NG_016740.1:g.108895C>T; NM_005529.7:c.11000C>T; NP_005520.4:p.Thr3667Met	369084217
NM_005529.7:c.11208-7G>A	Saudi Arabia	NC_000001.11:g.21831803C>T	Likely Pathogenic, Pathogenic, Uncertain Significance	Likely Pathogenic	Schwartz-Jampel Syndrome, Type 1	NG_016740.1:g.110455G>A; NM_005529.7:c.11208-7G>A	1336552092	499769
NM_005529.7:c.2747G>A	Saudi Arabia	NC_000001.11:g.21876591C>T	Uncertain Significance	Uncertain Significance		NG_016740.1:g.65667G>A; NM_005529.7:c.2747G>A; NP_005520.4:p.Arg916Gln	369313904	842464
NM_005529.7:c.8464+4A>G	Tunisia	chr1:21846104	Pathogenic	Pathogenic	Schwartz-Jampel Syndrome, Type 1	NG_016740.1:g.96154A>G; NM_005529.7:c.8464+4A>G	1572204991	14917
NM_005529.7:c.9970G>A	Saudi Arabia	NC_000001.11:g.21839005C>T	Likely Pathogenic	Likely Pathogenic	Dyssegmental Dysplasia, Silverman-Handmaker Type	NG_016740.1:g.103253G>A; NM_005529.7:c.9970G>A; NP_005520.4:p.Gly3324Arg	1294413650	982057

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External Links

https://medlineplus.gov/genetics/gene/hspg2/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=HSPG2

Contributors

Asha Deepthi: 20.12.2021
Ghazi O. Tadmouri: 07.04.2008
Tasneem Obeid: 14.02.2008

Edit History

Asha Deepthi: 20.12.2021
Sayeeda Hana: 10.09.2020
Sayeeda Hana: 09.09.2020
Pratibha Nair: 14.05.2015
Tasneem Obeid: 10.04.2008
Sarah Al-Haj Ali: 20.11.2004
Sarah Al-Haj Ali: 10.11.2004
Ghazi O. Tadmouri: 28.02.2004

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