Glypican 3

Alternative Names

  • GPC3
  • OCI-5, RAT, homolog of
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OMIM Number

300037

NCBI Gene ID

2719

Uniprot ID

P51654

Length

449,872 bases

No. of Exons

11

No. of isoforms

3

Protein Name

Glypican-3

Molecular Mass

65563 Da

Amino Acid Count

580

Genomic Location

chrX:133,535,745-133,985,616

Gene Map Locus
Xq26.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004484.4:c.79_81CCG[6]LebanonchrX:133985357-133985359BenignUncertain SignificanceBreast CancerNG_009286.1:g.5269_5271CCG[6]; NM_004484.4:c.79_81CCG[6]; NP_004475.1:p.Pro31dup749104500408895
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