Gene: GPC3

Alternate names for this Gene: DGSX|GTR2-2|MXR7|OCI-5|SDYS|SGB|SGBS|SGBS1

Gene Summary: 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.

Gene is located in Chromosome: X

Location in Chromosome : Xq26.2

Description of this Gene: glypican 3

Type of Gene: protein-coding

rs122453121 in GPC3 gene and Nephroblastoma PMID 24459012 2014 Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation.

PMID 17603795 2007 GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome.

PMID 17850639 2007 Germinal mosaicism in Simpson-Golabi-Behmel syndrome.

rs104894854 in GPC3 gene and SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 PMID 10814714 2000 Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene.