Heparan Sulfate Proteoglycan of Basement Membrane

Back to search Result
OMIM Number

142461

NCBI Gene ID

3339

Uniprot ID

P98160

Length

115,067 bases

No. of Exons

103

No. of isoforms

1

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

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_005529.6:c.4740G>ATunisiachr1:21864100Likely PathogenicSchwartz-Jampel Syndrome, Type 1NG_016740.1:g.78158G>A; NM_005529.6:c.4740G>A; NP_005520.4:p.Ser1580=
NM_005529.7:c.10894C>TArabNC_000001.11:g.21833551G>APathogenicPathogenicDyssegmental Dysplasia, Silverman-Handmaker TypeNG_016740.1:g.108707C>T; NM_005529.7:c.10894C>T; NP_005520.4:p.Arg3632Ter762281715284213
NM_005529.7:c.11000C>TSaudi ArabiaNC_000001.11:g.21833363G>ALikely PathogenicSchwartz-Jampel Syndrome, Type 1NG_016740.1:g.108895C>T; NM_005529.7:c.11000C>T; NP_005520.4:p.Thr3667Met369084217
NM_005529.7:c.11208-7G>ASaudi ArabiaNC_000001.11:g.21831803C>TLikely Pathogenic, Uncertain SignificanceLikely PathogenicSchwartz-Jampel Syndrome, Type 1NG_016740.1:g.110455G>A; NM_005529.7:c.11208-7G>A1336552092499769
NM_005529.7:c.8464+4A>GTunisiachr1:21846104PathogenicPathogenicSchwartz-Jampel Syndrome, Type 1NG_016740.1:g.96154A>G; NM_005529.7:c.8464+4A>G157220499114917
NM_005529.7:c.9970G>ASaudi ArabiaNC_000001.11:g.21839005C>TLikely PathogenicLikely PathogenicDyssegmental Dysplasia, Silverman-Handmaker TypeNG_016740.1:g.103253G>A; NM_005529.7:c.9970G>A; NP_005520.4:p.Gly3324Arg1294413650982057
© CAGS 2024. All rights reserved.