HSPG2 (Perlecan) Gene
Key extracellular matrix proteoglycan involved in development, angiogenesis, and disease
Gene Information Card
| Symbol | HSPG2 |
|---|---|
| Full Name | Heparan Sulfate Proteoglycan 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.12 |
| NCBI Gene ID | 3339 ncbi.nlm.nih.gov/gene/3339 |
| Ensembl ID | ENSG00000142798 |
| UniProt ID | P98160 |
| OMIM ID | 142461 |
| HGNC ID | 5273 |
| Aliases | SJS, SJS1, perlecan, PLC, PRCAN |
Description
The HSPG2 gene encodes perlecan, a large heparan sulfate proteoglycan that is a major component of basement membranes and extracellular matrices. Perlecan interacts with growth factors, cell surface receptors, and matrix components to regulate cell adhesion, migration, angiogenesis, and tissue development. Mutations in HSPG2 cause Schwartz-Jampel syndrome and dyssegmental dysplasia, Silverman-Handmaker type.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schwartz-Jampel syndrome (SJS) | Loss-of-function mutations in HSPG2 lead to reduced perlecan in the extracellular matrix, impairing neuromuscular junction stability and cartilage development. | OMIM #255800; multiple reports in ClinVar and literature |
| Dyssegmental dysplasia, Silverman-Handmaker type | Biallelic loss-of-function mutations cause severe skeletal dysplasia with abnormal vertebral segmentation and shortened limbs. | OMIM #224410; confirmed by molecular analysis |
| Atherosclerosis | Perlecan modulates lipid retention and smooth muscle cell proliferation in arterial walls; altered expression linked to plaque formation. | NCBI Gene references; experimental models |
| Cancer progression | Perlecan promotes tumor angiogenesis and metastasis via heparan sulfate chains binding to growth factors (e.g., FGF2, VEGF). | COSMIC; literature on perlecan in tumor microenvironment |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 45.2 | High |
| Heart | 38.7 | High |
| Lung | 30.1 | Medium |
| Kidney | 28.5 | Medium |
| Liver | 12.3 | Low |
| Brain | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 62.4 | High expression; perlecan in basement membrane |
| A549 (lung carcinoma) | 35.1 | Moderate; supports tumor matrix |
| HeLa (cervical carcinoma) | 22.8 | Moderate |
| MCF7 (breast carcinoma) | 18.3 | Low to moderate |
| K562 (leukemia) | 5.2 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1120C>T (p.Arg374Ter) | Nonsense | Rare | Loss of function; truncation of perlecan |
| c.7007G>A (p.Arg2336Gln) | Missense | Rare | Impaired heparan sulfate attachment; Schwartz-Jampel syndrome |
| c.9412delG (p.Ala3138ProfsTer12) | Frameshift | Rare | Loss of function; dyssegmental dysplasia |
| c.12946C>T (p.Arg4316Cys) | Missense | Rare | Dominant negative effect in some skeletal phenotypes |
Mutation functional classification
Loss of Function (LOF)
Most HSPG2 disease mutations are loss-of-function, leading to reduced or absent perlecan, causing Schwartz-Jampel syndrome or dyssegmental dysplasia.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in HSPG2.
Dominant Negative (DN)
Rare missense mutations (e.g., p.Arg4316Cys) may exert dominant-negative effects by disrupting perlecan assembly in the extracellular matrix.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ECM-receptor interaction (KEGG: hsa04512)
• Proteoglycans in cancer (KEGG: hsa05205)
• FGF signaling pathway (Reactome: R-HSA-190236)
• Integrin cell surface interactions (Reactome: R-HSA-216083)
Protein Summary
Perlecan (UniProt P98160) is a 4391-amino-acid heparan sulfate proteoglycan with five distinct domains. It contains multiple laminin G-like domains, immunoglobulin-like repeats, and heparan sulfate attachment sites. Perlecan is secreted and incorporated into basement membranes, where it binds collagen IV, laminin, nidogen, and growth factors. It plays critical roles in tissue development, wound healing, and tumor angiogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSPG2 Knockout HEK293 Cell Line | EDJ-KQ3047 | Human | 3339 | Details Get a Quote |
| HSPG2 Knockout A-549 Cell Line | EDJ-KQ24291 | Human | 3339 | Details Get a Quote |
| HSPG2 Knockout HCT 116 Cell Line | EDJ-KQ24292 | Human | 3339 | Details Get a Quote |
| HSPG2 Knockout HeLa Cell Line | EDJ-KQ24293 | Human | 3339 | Details Get a Quote |
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