GP9 (glycoprotein IX platelet)

2014-11-01  

Identity

HGNC
LOCATION
3q21.3
LOCUSID
ALIAS
CD42a,GPIX

Other Information

Locus ID:

NCBI: 2815
MIM: 173515
HGNC: 4444
Ensembl: ENSG00000169704

Variants:

dbSNP: 2815
ClinVar: 2815
TCGA: ENSG00000169704
COSMIC: GP9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169704ENST00000307395P14770

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
ECM-receptor interactionKEGGko04512
Hematopoietic cell lineageKEGGko04640
ECM-receptor interactionKEGGhsa04512
Hematopoietic cell lineageKEGGhsa04640
Platelet activationKEGGhsa04611
HemostasisREACTOMER-HSA-109582
Platelet Adhesion to exposed collagenREACTOMER-HSA-75892
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
GP1b-IX-V activation signallingREACTOMER-HSA-430116
Platelet Aggregation (Plug Formation)REACTOMER-HSA-76009
Formation of Fibrin Clot (Clotting Cascade)REACTOMER-HSA-140877
Intrinsic Pathway of Fibrin Clot FormationREACTOMER-HSA-140837

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA26716COL3A1GenePathwayassociated20938371
PA26717COL4A1GenePathwayassociated20938371
PA26718COL4A2GenePathwayassociated20938371
PA33384PLCB1GenePathwayassociated20938371
PA33393PLCG2GenePathwayassociated20938371
PA35041COL1A1GenePathwayassociated20938371
PA35042COL1A2GenePathwayassociated20938371

References

Pubmed IDYearTitleCitations
335506132021Oxidation shuts down an auto-inhibitory mechanism of von Willebrand factor.1
335506132021Oxidation shuts down an auto-inhibitory mechanism of von Willebrand factor.1
285614202017Cab4b, the first human platelet antigen carried by glycoprotein IX discovered in a context of severe neonatal thrombocytopenia.1
286039022017Extracellular signal-regulated kinase 5 associates with casein kinase II to regulate GPIb-IX-mediated platelet activation via the PTEN/PI3K/Akt pathway.13
285614202017Cab4b, the first human platelet antigen carried by glycoprotein IX discovered in a context of severe neonatal thrombocytopenia.1
286039022017Extracellular signal-regulated kinase 5 associates with casein kinase II to regulate GPIb-IX-mediated platelet activation via the PTEN/PI3K/Akt pathway.13
262031892015The Transmembrane Domains of β and IX Subunits Mediate the Localization of the Platelet Glycoprotein Ib-IX Complex to the Glycosphingolipid-enriched Membrane Domain.3
262031892015The Transmembrane Domains of β and IX Subunits Mediate the Localization of the Platelet Glycoprotein Ib-IX Complex to the Glycosphingolipid-enriched Membrane Domain.3
239956132014Novel genetic abnormalities in Bernard-Soulier syndrome in India.5
239956132014Novel genetic abnormalities in Bernard-Soulier syndrome in India.5
239293032013Bernard-Soulier syndrome: an update.24
239293032013Bernard-Soulier syndrome: an update.24
231436862012Platelets with a W127X mutation in GPIX express sufficient residual amounts of GPIbα to support adhesion to von Willebrand factor and collagen.2
231436862012Platelets with a W127X mutation in GPIX express sufficient residual amounts of GPIbα to support adhesion to von Willebrand factor and collagen.2
215079432011Platelet glycoprotein Ib beta/IX mediates glycoprotein Ib alpha localization to membrane lipid domain critical for von Willebrand factor interaction at high shear.7

Citation

Dessen P

GP9 (glycoprotein IX platelet)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63919/gp9-(glycoprotein-ix-platelet)