GPC3 Chromosome X
Glypican 3
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What This Gene Does
Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The protein encoded by this gene can bind to and inhibit the dipeptidyl peptidase activity of CD26, and it can induce apoptosis in certain cell types. Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome, also known as Simpson dysmorphia syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
Glypicans
Locus Type
gene with protein product
Location
Xq26.2
Ensembl
ENSG00000147257
Associated Conditions (10)
Wilms tumor 1
Inborn genetic diseases
Simpson-Golabi-Behmel syndrome type 1
GPC3-related disorder
Hereditary cancer-predisposing syndrome
Intellectual disability
Thyroid cancer
nonmedullary
1
Nonpapillary renal cell carcinoma
Key Variants
RS1007159317
Conflicting classifications of pathogenicity
Wilms tumor 1, Inborn genetic diseases, Wilms tumor 1
Health Risk
RS1199305584
Conflicting classifications of pathogenicity
Wilms tumor 1, Wilms tumor 1
Health Risk
RS1203009272
Conflicting classifications of pathogenicity
Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1
Health Risk
RS1277140205
Conflicting classifications of pathogenicity
Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1
Health Risk
RS137858712
Conflicting classifications of pathogenicity
Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1
Health Risk
RS138450923
Conflicting classifications of pathogenicity
Wilms tumor 1, Inborn genetic diseases, GPC3-related disorder
Health Risk
RS1404574866
Conflicting classifications of pathogenicity
Wilms tumor 1, Inborn genetic diseases, Wilms tumor 1
Health Risk
RS140756498
Conflicting classifications of pathogenicity
Wilms tumor 1, Wilms tumor 1
Health Risk
RS141100113
Conflicting classifications of pathogenicity
Wilms tumor 1, Hereditary cancer-predisposing syndrome, Inborn genetic diseases
Health Risk
RS147231796
Conflicting classifications of pathogenicity
Wilms tumor 1, GPC3-related disorder, Inborn genetic diseases
Health Risk
RS148219256
Conflicting classifications of pathogenicity
Wilms tumor 1, Wilms tumor 1
Health Risk
RS149261557
Conflicting classifications of pathogenicity
Wilms tumor 1, Wilms tumor 1
Health Risk
All Variants (96)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2071700502 | Health Risk | Likely pathogenic | Simpson-Golabi-Behmel syndrome type 1, Simpson-Golabi-Behmel syndrome type 1 |
| RS2124401750 | Health Risk | Likely pathogenic | Wilms tumor 1, Wilms tumor 1 |
| RS2124401754 | Health Risk | Likely pathogenic | Simpson-Golabi-Behmel syndrome type 1, Simpson-Golabi-Behmel syndrome type 1 |
| RS2521160162 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2521354962 | Health Risk | Likely pathogenic | Simpson-Golabi-Behmel syndrome type 1, Nonpapillary renal cell carcinoma, Simpson-Golabi-Behmel syndrome type 1 |
| RS2521895048 | Health Risk | Likely pathogenic | Wilms tumor 1, Thyroid cancer, nonmedullary |
| RS2521895947 | Health Risk | Likely pathogenic | Simpson-Golabi-Behmel syndrome type 1, Simpson-Golabi-Behmel syndrome type 1 |
| RS267606850 | Health Risk | Likely pathogenic | Simpson-Golabi-Behmel syndrome type 1, Inborn genetic diseases, Wilms tumor 1 |
| RS753210097 | Health Risk | Likely pathogenic | Simpson-Golabi-Behmel syndrome type 1, Simpson-Golabi-Behmel syndrome type 1 |
| RS886039908 | Health Risk | Likely pathogenic | Simpson-Golabi-Behmel syndrome type 1, Simpson-Golabi-Behmel syndrome type 1 |
| RS104894854 | Health Risk | Pathogenic | Simpson-Golabi-Behmel syndrome type 1, Simpson-Golabi-Behmel syndrome type 1 |
| RS104894855 | Health Risk | Pathogenic | Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1 |
| RS1057517739 | Health Risk | Pathogenic | — |
| RS122453119 | Health Risk | Pathogenic | Wilms tumor 1, Wilms tumor 1 |
| RS122453121 | Health Risk | Pathogenic | Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1 |
| RS1556297749 | Health Risk | Pathogenic | Wilms tumor 1, Wilms tumor 1 |
| RS1569392947 | Health Risk | Pathogenic | Wilms tumor 1, Wilms tumor 1 |
| RS1569408743 | Health Risk | Pathogenic | Wilms tumor 1, Wilms tumor 1 |
| RS1602581162 | Health Risk | Pathogenic | Wilms tumor 1, Wilms tumor 1 |
| RS1603240717 | Health Risk | Pathogenic | Wilms tumor 1, Wilms tumor 1 |
| RS2071072718 | Health Risk | Pathogenic | Wilms tumor 1, Wilms tumor 1 |
| RS2071072751 | Health Risk | Pathogenic | Wilms tumor 1, Wilms tumor 1 |
| RS2071695360 | Health Risk | Pathogenic | — |
| RS2071701505 | Health Risk | Pathogenic | Wilms tumor 1, Wilms tumor 1 |
| RS2076400400 | Health Risk | Pathogenic | Wilms tumor 1, GPC3-related disorder, Wilms tumor 1 |
| RS2076400520 | Health Risk | Pathogenic | Inborn genetic diseases, Wilms tumor 1, Inborn genetic diseases |
| RS2124330798 | Health Risk | Pathogenic | Wilms tumor 1, Wilms tumor 1 |
| RS2124401794 | Health Risk | Pathogenic | Wilms tumor 1, Wilms tumor 1 |
| RS2124479949 | Health Risk | Pathogenic | Wilms tumor 1, Wilms tumor 1 |
| RS2124479966 | Health Risk | Pathogenic | Wilms tumor 1, Nonpapillary renal cell carcinoma, Wilms tumor 1 |
| RS2124480362 | Health Risk | Pathogenic | Wilms tumor 1, Wilms tumor 1 |
| RS2124655627 | Health Risk | Pathogenic | Wilms tumor 1, Wilms tumor 1 |
| RS2521016238 | Health Risk | Pathogenic | Wilms tumor 1, Wilms tumor 1 |
| RS2521016626 | Health Risk | Pathogenic | Wilms tumor 1, Wilms tumor 1 |
| RS2521356554 | Health Risk | Pathogenic | Wilms tumor 1, Wilms tumor 1 |
| RS2521895087 | Health Risk | Pathogenic | Wilms tumor 1, Wilms tumor 1 |
| RS2521895386 | Health Risk | Pathogenic | Simpson-Golabi-Behmel syndrome type 1, Simpson-Golabi-Behmel syndrome type 1 |
| RS2521972014 | Health Risk | Pathogenic | Wilms tumor 1, Wilms tumor 1 |
| RS752194694 | Health Risk | Pathogenic | Wilms tumor 1, Wilms tumor 1 |
| RS869025181 | Health Risk | Pathogenic | Simpson-Golabi-Behmel syndrome type 1, Simpson-Golabi-Behmel syndrome type 1 |
| RS869025182 | Health Risk | Pathogenic | Simpson-Golabi-Behmel syndrome type 1, Thyroid cancer, nonmedullary |
| RS869025183 | Health Risk | Pathogenic | Simpson-Golabi-Behmel syndrome type 1, Simpson-Golabi-Behmel syndrome type 1 |
| RS886039384 | Health Risk | Pathogenic | — |
| RS886039473 | Health Risk | Pathogenic | — |
| RS886039489 | Health Risk | Pathogenic | Simpson-Golabi-Behmel syndrome type 1, Simpson-Golabi-Behmel syndrome type 1 |
| RS2124634791 | Health Risk | Pathogenic/Likely pathogenic | Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1 |