HSPG2 (P98160) variants and mutations

HSPG2 (also known as P98160) is a human protein-coding gene encoding a basement membrane-specific heparan sulfate proteoglycan core protein. Perlecan, a major heparan-sulfate proteoglycan in basement membranes. It helps organize the extracellular matrix and supports tissues including cartilage, muscle, and blood vessels. This analysis covers 5,741 HSPG2 variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes Schwartz-Jampel syndrome, Dyssegmental dysplasia, Silverman-Handmaker type, and Silverman-Handmaker type dyssegmental dysplasia. Example HSPG2 variants include M1T, M1V, and G2R.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Diseases linked to HSPG2

Notable HSPG2 variants

Examples include M1T, M1V, G2R, W3C, W3G, W3L, W3S, R4W. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.