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HSPG2

Chr 1p36.12

heparan sulfate proteoglycan 2

Aliases:
perlecan, PRCAN
MANE:
ENST00000374695.8
OMIM: 142461 ↗NCBI: 3339 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Arthrogryposis

    BIALLELIC, autosomal or pseudoautosomal

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

  • Paroxysmal central nervous system disorders

    BIALLELIC, autosomal or pseudoautosomal

  • Skeletal Muscle Channelopathies

    BIALLELIC, autosomal or pseudoautosomal

  • Osteogenesis imperfecta

Disease associations (Open Targets)

  • Schwartz-Jampel syndrome

    0.80

  • Dyssegmental dysplasia, Silverman-Handmaker type

    0.77

  • Silverman-Handmaker type dyssegmental dysplasia

    0.76

  • atrial fibrillation

    0.56

  • COVID-19

    0.54

  • dengue disease

    0.46

  • AL amyloidosis

    0.37

  • aortic stenosis

    0.37

  • atrial flutter

    0.36

  • chronic obstructive pulmonary disease

    0.36

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Basement membrane-specific heparan sulfate proteoglycan core protein

Integral component of basement membranes. Component of the glomerular basement membrane (GBM), responsible for the fixed negative electrostatic membrane charge, and which provides a barrier which is both size- and charge-selective. It serves as an attachment substrate for cells. Plays essential roles in vascularization. Critical for normal heart development and for regulating the vascular response to injury. Also required for avascular cartilage development (PubMed:12435733, PubMed:15591058, PubMed:19789387). In muscle, it is essential for localizing acetylcholinesterase (AChE) at the neuromuscular junctions (NMJ), most probably acting as an adapter that links the acetylcholinesterase collagenic tail peptide (COLQ) to alpha-dystroglycan, and is therefore involved in the down-regulation of colinergic synaptic transmission (By similarity)

Diseases associated with HSPG2

Curated MONDO disease pages that list HSPG2 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.