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HSPG2

Synonyms
HSPG, PLC, PRCAN, SJA, SJS, SJS1
External resources
Summary
This gene encodes the perlecan protein, which consists of a core protein to which three long chains of glycosaminoglycans (heparan sulfate or chondroitin sulfate) are attached. The perlecan protein is a large multidomain proteoglycan that binds to and cross-links many extracellular matrix components and cell-surface molecules. It has been shown that this protein interacts with laminin, prolargin, collagen type IV, FGFBP1, FBLN2, FGF7 and transthyretin, etc., and it plays essential roles in multiple biological activities. Perlecan is a key component of the vascular extracellular matrix, where it helps to maintain the endothelial barrier function. It is a potent inhibitor of smooth muscle cell proliferation and is thus thought to help maintain vascular homeostasis. It can also promote growth factor (e.g., FGF2) activity and thus stimulate endothelial growth and re-generation. It is a major component of basement membranes, where it is involved in the stabilization of other molecules as well as being involved with glomerular permeability to macromolecules and cell adhesion. Mutations in this gene cause Schwartz-Jampel syndrome type 1, Silverman-Handmaker type of dyssegmental dysplasia, and tardive dyskinesia. Alternative splicing of this gene results in multiple transcript variants.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
54
Likely pathogenic
5
VUS
17,383
Likely benign
8,806
Benign
1,846

Patient phenotypes

Proportions of phenotypes among 57 patients carrying pathogenic or likely pathogenic variants on HSPG2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
31.6%
Abnormality of the musculoskeletal system
28.1%
Abnormality of the eye
21.1%
Abnormality of the cardiovascular system
15.8%
Abnormality of head or neck
14%
Abnormality of limbs
14%
Abnormality of the digestive system
8.8%
Abnormality of the genitourinary system
8.8%
Abnormality of the integument
8.8%
Abnormality of the ear
5.3%
Abnormality of the immune system
3.5%
Constitutional symptom
3.5%
Abnormality of blood and blood-forming tissues
1.8%
Abnormality of the endocrine system
1.8%
Growth abnormality
1.8%
Neoplasm
1.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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