HSPG2 Chromosome 1
Heparan sulfate proteoglycan 2
Upload your DNA to see your personal genotypes for variants in HSPG2.
What This Gene Does
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. [provided by RefSeq, May 2014]
Gene Info
Gene Group
"Proteoglycans|I-set domain containing"
Locus Type
gene with protein product
Location
1p36.12
Ensembl
ENSG00000142798
Associated Conditions (17)
HSPG2-related disorder
Inborn genetic diseases
Schwartz-Jampel syndrome
Lethal Kniest-like syndrome
Connective tissue disorder
Multiple congenital anomalies/dysmorphic syndrome
Schwartz-Jampel syndrome type 1
Lymphoma
Intellectual disability
See cases
Cervical cancer
Ovarian serous cystadenocarcinoma
Malignant tumor of esophagus
Childhood-onset schizophrenia
Autosomal recessive HSPG2-related disorders
Malignant tumor of urinary bladder
Abnormal facial shape
Key Variants
RS1057521178
Conflicting classifications of pathogenicity
Health Risk
RS111558823
Conflicting classifications of pathogenicity
HSPG2-related disorder, HSPG2-related disorder
Health Risk
RS111846397
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS111866498
Conflicting classifications of pathogenicity
Schwartz-Jampel syndrome, Lethal Kniest-like syndrome, Connective tissue disorder
Health Risk
RS113652076
Conflicting classifications of pathogenicity
Schwartz-Jampel syndrome, Lethal Kniest-like syndrome, Connective tissue disorder
Health Risk
RS113695182
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS116316900
Conflicting classifications of pathogenicity
Lethal Kniest-like syndrome, Schwartz-Jampel syndrome, Inborn genetic diseases
Health Risk
RS116630187
Conflicting classifications of pathogenicity
Lethal Kniest-like syndrome, Connective tissue disorder, HSPG2-related disorder
Health Risk
RS1336552092
Conflicting classifications of pathogenicity
Schwartz-Jampel syndrome, Schwartz-Jampel syndrome type 1, Schwartz-Jampel syndrome
Health Risk
RS138459752
Conflicting classifications of pathogenicity
Schwartz-Jampel syndrome, Lethal Kniest-like syndrome, HSPG2-related disorder
Health Risk
RS138460117
Conflicting classifications of pathogenicity
Schwartz-Jampel syndrome, Lethal Kniest-like syndrome, HSPG2-related disorder
Health Risk
RS138518139
Conflicting classifications of pathogenicity
Health Risk
All Variants (312)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2152749480 | Health Risk | Likely pathogenic | — |
| RS2550581823 | Health Risk | Likely pathogenic | Schwartz-Jampel syndrome type 1, Schwartz-Jampel syndrome type 1 |
| RS2550621846 | Health Risk | Likely pathogenic | Lethal Kniest-like syndrome, Lethal Kniest-like syndrome |
| RS2550675452 | Health Risk | Likely pathogenic | — |
| RS2550682749 | Health Risk | Likely pathogenic | — |
| RS2550764807 | Health Risk | Likely pathogenic | — |
| RS2550800597 | Health Risk | Likely pathogenic | Schwartz-Jampel syndrome type 1, Schwartz-Jampel syndrome type 1 |
| RS543805444 | Health Risk | Likely pathogenic | Schwartz-Jampel syndrome, Schwartz-Jampel syndrome |
| RS763945561 | Health Risk | Likely pathogenic | Schwartz-Jampel syndrome type 1, Schwartz-Jampel syndrome type 1, Schwartz-Jampel syndrome type 1 |
| RS769130391 | Health Risk | Likely pathogenic | Lethal Kniest-like syndrome, Schwartz-Jampel syndrome, Lethal Kniest-like syndrome |
| RS868479224 | Health Risk | Likely pathogenic | — |
| RS886039909 | Health Risk | Likely pathogenic | Schwartz-Jampel syndrome, Schwartz-Jampel syndrome |
| RS927473035 | Health Risk | Likely pathogenic | Schwartz-Jampel syndrome, Schwartz-Jampel syndrome |
| RS1236588751 | Health Risk | Pathogenic | — |
| RS1271545054 | Health Risk | Pathogenic | — |
| RS1310509066 | Health Risk | Pathogenic | — |
| RS1338495481 | Health Risk | Pathogenic | — |
| RS137853248 | Health Risk | Pathogenic | Schwartz-Jampel syndrome type 1, Schwartz-Jampel syndrome type 1 |
| RS1395524891 | Health Risk | Pathogenic | — |
| RS1450531583 | Health Risk | Pathogenic | — |
| RS146048924 | Health Risk | Pathogenic | — |
| RS1572204991 | Health Risk | Pathogenic | Schwartz-Jampel syndrome type 1, Schwartz-Jampel syndrome type 1 |
| RS1572220282 | Health Risk | Pathogenic | Schwartz-Jampel syndrome type 1, Schwartz-Jampel syndrome type 1 |
| RS1572227825 | Health Risk | Pathogenic | — |
| RS1572304438 | Health Risk | Pathogenic | Schwartz-Jampel syndrome, Schwartz-Jampel syndrome |
| RS1572319254 | Health Risk | Pathogenic | — |
| RS1639294429 | Health Risk | Pathogenic | — |
| RS2098048505 | Health Risk | Pathogenic | — |
| RS2152692989 | Health Risk | Pathogenic | — |
| RS2152703859 | Health Risk | Pathogenic | — |
| RS2152721133 | Health Risk | Pathogenic | Lethal Kniest-like syndrome, Lethal Kniest-like syndrome |
| RS2152730317 | Health Risk | Pathogenic | — |
| RS2152735062 | Health Risk | Pathogenic | — |
| RS2152747090 | Health Risk | Pathogenic | Lethal Kniest-like syndrome, Lethal Kniest-like syndrome |
| RS2152751272 | Health Risk | Pathogenic | — |
| RS2550601121 | Health Risk | Pathogenic | — |
| RS2550603288 | Health Risk | Pathogenic | — |
| RS2550633710 | Health Risk | Pathogenic | — |
| RS2550665451 | Health Risk | Pathogenic | Schwartz-Jampel syndrome type 1, Schwartz-Jampel syndrome type 1 |
| RS2550711719 | Health Risk | Pathogenic | — |
| RS2550728484 | Health Risk | Pathogenic | — |
| RS2550748924 | Health Risk | Pathogenic | — |
| RS2550792393 | Health Risk | Pathogenic | — |
| RS2550794884 | Health Risk | Pathogenic | — |
| RS2550801637 | Health Risk | Pathogenic | — |
| RS530138013 | Health Risk | Pathogenic | — |
| RS747493127 | Health Risk | Pathogenic | HSPG2-related disorder, HSPG2-related disorder |
| RS748523693 | Health Risk | Pathogenic | Schwartz-Jampel syndrome type 1, Schwartz-Jampel syndrome type 1 |
| RS750108837 | Health Risk | Pathogenic | — |
| RS759141433 | Health Risk | Pathogenic | Autosomal recessive HSPG2-related disorders, Autosomal recessive HSPG2-related disorders |