GP9 (glycoprotein IX platelet)

2014-11-01 Affiliation

Identity

HGNC

GP9

LOCATION

3q21.3

LOCUSID

2815

ALIAS

CD42a,GPIX

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000169704	ENST00000307395	P14770

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
ECM-receptor interaction	KEGG	ko04512
Hematopoietic cell lineage	KEGG	ko04640
ECM-receptor interaction	KEGG	hsa04512
Hematopoietic cell lineage	KEGG	hsa04640
Platelet activation	KEGG	hsa04611
Hemostasis	REACTOME	R-HSA-109582
Platelet Adhesion to exposed collagen	REACTOME	R-HSA-75892
Platelet activation, signaling and aggregation	REACTOME	R-HSA-76002
GP1b-IX-V activation signalling	REACTOME	R-HSA-430116
Platelet Aggregation (Plug Formation)	REACTOME	R-HSA-76009
Formation of Fibrin Clot (Clotting Cascade)	REACTOME	R-HSA-140877
Intrinsic Pathway of Fibrin Clot Formation	REACTOME	R-HSA-140837

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PMIDs
PA26716	COL3A1	Gene	Pathway	associated	20938371
PA26717	COL4A1	Gene	Pathway	associated	20938371
PA26718	COL4A2	Gene	Pathway	associated	20938371
PA33384	PLCB1	Gene	Pathway	associated	20938371
PA33393	PLCG2	Gene	Pathway	associated	20938371
PA35041	COL1A1	Gene	Pathway	associated	20938371
PA35042	COL1A2	Gene	Pathway	associated	20938371

References

Pubmed ID	Year	Title	Citations
12361948	2002	Regulation of glycoprotein Ib-IX-von Willebrand factor interaction by cAMP-dependent protein kinase-mediated phosphorylation at Ser 166 of glycoprotein Ib(beta).	21
21908432	2011	Quaternary organization of GPIb-IX complex and insights into Bernard-Soulier syndrome revealed by the structures of GPIbβ and a GPIbβ/GPIX chimera.	18
18674540	2008	Specific heteromeric association of four transmembrane peptides derived from platelet glycoprotein Ib-IX complex.	17
19377075	2009	Intrinsic impaired proplatelet formation and microtubule coil assembly of megakaryocytes in a mouse model of Bernard-Soulier syndrome.	16
11812775	2002	Lateral clustering of platelet GP Ib-IX complexes leads to up-regulation of the adhesive function of integrin alpha IIbbeta 3.	15
17922811	2007	Role of the transmembrane domain of glycoprotein IX in assembly of the glycoprotein Ib-IX complex.	15
18612104	2008	The glycoprotein Ib-IX-V complex contributes to tissue factor-independent thrombin generation by recombinant factor VIIa on the activated platelet surface.	14
18450753	2008	Redundant mechanism of platelet adhesion to laminin and collagen under flow: involvement of von Willebrand factor and glycoprotein Ib-IX-V.	13
12463594	2002	Genetic abnormalities of Bernard-Soulier syndrome.	11
15477207	2004	Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients.	11

Citation

Dessen P

GP9 (glycoprotein IX platelet)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63919/gp9