Glypican 3

GPC3
Identifiers
Aliases	GPC3, DGSX, GTR2-2, MXR7, OCI-5, SDYS, SGB, SGBS, SGBS1, Glypican 3
External IDs	OMIM: 300037; MGI: 104903; HomoloGene: 20944; GeneCards: GPC3; OMA:GPC3 - orthologs
Gene location (Human)
Chr.	X chromosome (human)
End	133,987,100 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	51,702,827 bp
RNA expression pattern
	Top expressed in
	upper lobe of left lung; ; right lung; ; tibial nerve; ; placenta; ; subcutaneous adipose tissue; ; anterior pituitary; ; right coronary artery; ; lower lobe of lung; ; left coronary artery; ; kidney;
	Top expressed in
	belly cord; ; abdominal wall; ; maxillary prominence; ; yolk sac; ; hand; ; molar; ; sciatic nerve; ; dermis; ; atrium; ; retinal pigment epithelium;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	peptidase inhibitor activity; protein binding; peptidyl-dipeptidase inhibitor activity; heparan sulfate proteoglycan binding;
Cellular component	membrane; anchored component of plasma membrane; plasma membrane; integral component of plasma membrane; extracellular region; lysosomal lumen; Golgi lumen; anchored component of membrane; lysosome; extracellular space; endoplasmic reticulum lumen; intrinsic component of plasma membrane; collagen-containing extracellular matrix;
Biological process	body morphogenesis; positive regulation of glucose import; bone mineralization; negative regulation of peptidase activity; negative regulation of growth; negative regulation of smoothened signaling pathway; positive regulation of protein catabolic process; positive regulation of smoothened signaling pathway; cell proliferation involved in metanephros development; lung development; kidney development; osteoclast differentiation; anatomical structure morphogenesis; mesenchymal cell proliferation involved in ureteric bud development; mesonephric duct morphogenesis; coronary vasculature development; retinoid metabolic process; cell proliferation involved in kidney development; positive regulation of endocytosis; branching involved in ureteric bud morphogenesis; glycosaminoglycan catabolic process; glycosaminoglycan biosynthetic process; negative regulation of epithelial cell proliferation; positive regulation of BMP signaling pathway; animal organ morphogenesis; regulation of growth; positive regulation of Wnt signaling pathway, planar cell polarity pathway; anterior/posterior axis specification; negative regulation of canonical Wnt signaling pathway; negative regulation of cell population proliferation; embryonic hindlimb morphogenesis; post-translational protein modification; regulation of signal transduction; response to bacterium;
	Sources:Amigo / QuickGO
Orthologs
	2719
	14734
	ENSG00000147257
	ENSMUSG00000055653
	P51654
	Q8CFZ4
	NM_004484; NM_001164617; NM_001164618; NM_001164619
	NM_016697
	NP_001158089; NP_001158090; NP_001158091; NP_004475; NP_004475.1
	NP_057906
	Wikidata
View/Edit Human	View/Edit Mouse

Glypican-3 is a protein that in humans is encoded by the GPC3 gene.^[5]^[6]^[7]^[8] The protein encoded by this gene is a member of the glypican family.

Structure and function

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.^[7]

Disease linkage

Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome.^[9]

Diagnostic utility

Glypican 3 immunostaining has utility for differentiating hepatocellular carcinoma (HCC) and dysplastic changes in cirrhotic livers; HCC stains with glypican 3, while liver with dysplastic changes and/or cirrhotic changes does not.^[10]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000147257 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000055653 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Pilia G, Hughes-Benzie RM, MacKenzie A, Baybayan P, Chen EY, Huber R, Neri G, Cao A, Forabosco A, Schlessinger D (Mar 1996). "Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome". Nat Genet. 12 (3): 241–7. doi:10.1038/ng0396-241. PMID 8589713.
^ Veugelers M, Vermeesch J, Watanabe K, Yamaguchi Y, Marynen P, David G (Dec 1998). "GPC4, the gene for human K-glypican, flanks GPC3 on xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome". Genomics. 53 (1): 1–11. doi:10.1006/geno.1998.5465. PMID 9787072.
^ ^a ^b "Entrez Gene: GPC3 glypican 3".
^ Jakubovic BD, Jothy S (April 2007). "Glypican-3: from the mutations of Simpson-Golabi-Behmel genetic syndrome to a tumor marker for hepatocellular carcinoma". Exp. Mol. Pathol. 82 (2): 184–9. doi:10.1016/j.yexmp.2006.10.010. PMID 17258707.
^ Davoodi J, Kelly J, Gendron NH, MacKenzie AE (June 2007). "The Simpson-Golabi-Behmel syndrome causative glypican-3, binds to and inhibits the dipeptidyl peptidase activity of CD26". Proteomics. 7 (13): 2300–10. doi:10.1002/pmic.200600654. PMID 17549790.
^ Anatelli F, Chuang ST, Yang XJ, Wang HL (2008). "Value of glypican 3 immunostaining in the diagnosis of hepatocellular carcinoma on needle biopsy". Am J Clin Pathol. 130 (2): 219–23–8. doi:10.1309/WMB5PX57Y4P8QCTY. PMID 18628090.

External links

GeneReviews/NIH/NCBI/UW entry on Simpson-Golabi-Behmel Syndrome