GP9

This gene encodes a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1 noncovalent complex with glycoprotein Ib, a platelet surface membrane glycoprotein complex that functions as a receptor for von Willebrand factor. The complete receptor complex includes noncovalent association of the alpha and beta subunits with the protein encoded by this gene and platelet glycoprotein V. Defects in this gene are a cause of Bernard-Soulier syndrome, also known as giant platelet disease. These patients have unusually large platelets and have a clinical bleeding tendency. [provided by RefSeq, Oct 2008]

Description

Glycoprotein IX platelet

Tissue specificity

Tissue enhanced (bone marrow, lung, lymphoid tissue)

Subcell location

Nucleoplasm, Plasma membrane, Cytosol

Predicted location

Membrane

Protein family

CD markers
Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

3 (129060779 - 129062406)

Ensembl ID

ENSG00000169704  (ver. 103.38)

Orthologs

Mouse Gp9: ENSMUSG00000030054

UniProt

P14770

neXtProt

NX_P14770

Human splice variants
Mouse splice variants

Protein structure