GPC4 Chromosome X
Glypican 4
Upload your DNA to see your personal genotypes for variants in GPC4.
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 GPC4 gene is adjacent to the 3' end of GPC3 and may also play a role in Simpson-Golabi-Behmel syndrome. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Glypicans
Locus Type
gene with protein product
Location
Xq26.2
Ensembl
ENSG00000076716
Associated Conditions (5)
Keipert syndrome
GPC4-related disorder
Inborn genetic diseases
Distal shortening of limbs
Craniosynostosis syndrome
Key Variants
RS2520389876
Conflicting classifications of pathogenicity
Keipert syndrome, GPC4-related disorder, Keipert syndrome
Health Risk
RS376026510
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1556022962
Likely pathogenic
Distal shortening of limbs, Distal shortening of limbs
Health Risk
RS1603054589
Likely pathogenic
GPC4-related disorder, GPC4-related disorder
Health Risk
RS2124103620
Likely pathogenic
Health Risk
RS2124120705
Likely pathogenic
Craniosynostosis syndrome, Craniosynostosis syndrome
Health Risk
RS2520390381
Likely pathogenic
Keipert syndrome, Keipert syndrome
Health Risk
RS2520399910
Likely pathogenic
Keipert syndrome, Keipert syndrome
Health Risk
RS1556022641
Pathogenic
Keipert syndrome, Keipert syndrome
Health Risk
RS1556022644
Pathogenic
Keipert syndrome, Keipert syndrome
Health Risk
RS1556025980
Pathogenic
Keipert syndrome, Keipert syndrome
Health Risk
RS1556028269
Pathogenic
Keipert syndrome, Keipert syndrome
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2520389876 | Health Risk | Conflicting classifications of pathogenicity | Keipert syndrome, GPC4-related disorder, Keipert syndrome |
| RS376026510 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1556022962 | Health Risk | Likely pathogenic | Distal shortening of limbs, Distal shortening of limbs |
| RS1603054589 | Health Risk | Likely pathogenic | GPC4-related disorder, GPC4-related disorder |
| RS2124103620 | Health Risk | Likely pathogenic | — |
| RS2124120705 | Health Risk | Likely pathogenic | Craniosynostosis syndrome, Craniosynostosis syndrome |
| RS2520390381 | Health Risk | Likely pathogenic | Keipert syndrome, Keipert syndrome |
| RS2520399910 | Health Risk | Likely pathogenic | Keipert syndrome, Keipert syndrome |
| RS1556022641 | Health Risk | Pathogenic | Keipert syndrome, Keipert syndrome |
| RS1556022644 | Health Risk | Pathogenic | Keipert syndrome, Keipert syndrome |
| RS1556025980 | Health Risk | Pathogenic | Keipert syndrome, Keipert syndrome |
| RS1556028269 | Health Risk | Pathogenic | Keipert syndrome, Keipert syndrome |
| RS1569339879 | Health Risk | Pathogenic | Keipert syndrome, Keipert syndrome |
| RS1569341521 | Health Risk | Pathogenic | Keipert syndrome, Keipert syndrome |
| RS2124120509 | Health Risk | Pathogenic | — |