GP9 (glycoprotein IX platelet)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2815
Gene name Gene Name - the full gene name approved by the HGNC.
Glycoprotein IX platelet
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GP9
Synonyms (NCBI Gene) Gene synonyms aliases
CD42a, GPIX
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
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. T
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
SNP ID Visualize variation Clinical significance Consequence
rs5030764 A>G Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs28933377 T>C Pathogenic Missense variant, coding sequence variant
rs28933378 T>C Pathogenic, likely-pathogenic Missense variant, coding sequence variant
rs121918036 A>G Pathogenic Missense variant, coding sequence variant
rs121918037 T>C,G Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
miRTarBase ID miRNA Experiments Reference
MIRT017185 hsa-miR-335-5p Microarray 18185580
MIRT022106 hsa-miR-125b-5p Other 19738052
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
Transcription factor Regulation Reference
FLI1 Activation 10194443;15466856
GATA1 Activation 15466856
GATA1 Unknown 11418466;20564185
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(19)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 1730602, 25416956, 31515488
GO:0005886 Component Plasma membrane TAS 2771955, 10429193
GO:0007155 Process Cell adhesion IEA
GO:0007155 Process Cell adhesion NAS 2771955
GO:0007596 Process Blood coagulation IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
173515 4444 ENSG00000169704
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P14770
Protein name Platelet glycoprotein IX (GP-IX) (GPIX) (Glycoprotein 9) (CD antigen CD42a)
Protein function The GPIb-V-IX complex functions as the vWF receptor and mediates vWF-dependent platelet adhesion to blood vessels. The adhesion of platelets to injured vascular surfaces in the arterial circulation is a critical initiating event in hemostasis. G
PDB 3REZ , 8WFS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01462 LRRNT 19 → 50 Leucine rich repeat N-terminal domain Family
PF13855 LRR_8 51 → 86 Leucine rich repeat Repeat
Sequence 
MPAWGALFLLWATAEATKDCPSPCTCRALETMGLWVDCRGHGLTALPALPARTRHLLLAN
NSLQSVPPGAFDHLPQLQTLDVTQNPWHCDCSLTYLRLWLEDRTPEALLQVRCASPSLAA
HGPLGRLTGYQLGSCGWQLQASWVRPGVLWDVALVAVAALGLALLAGLLCATTEALD
Sequence length 177
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  ECM-receptor interaction
Platelet activation
Hematopoietic cell lineage 		  Intrinsic Pathway of Fibrin Clot Formation
GP1b-IX-V activation signalling
Platelet Adhesion to exposed collagen
Platelet Aggregation (Plug Formation)
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
bernard soulier syndrome Bernard Soulier syndrome rs28933378, rs1297298519, rs5030764, rs121918037 N/A
Bernard Soulier Syndrome Bernard-Soulier syndrome type C rs28933377, rs28933378, rs5030764, rs121918036, rs121918037 N/A
Macrothrombocytopenia macrothrombocytopenia rs1297298519, rs5030764, rs121918037 N/A
thrombocytopenia Thrombocytopenia rs5030764 N/A
Show/Hide Text Mining Associations (23)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Absent radii and thrombocytopenia Associate 21933853
Anemia Aplastic Inhibit 22315490
Arthritis Rheumatoid Stimulate 34394126
Bernard Soulier Syndrome Associate 15609295, 27291889, 29119855, 34553764, 40045897, 7690959, 8407908
Blood Coagulation Disorders Associate 21829388
Blood Platelet Disorders Associate 22271903, 30721642, 36275702, 8407908
Breast Neoplasms Associate 35880886, 40428378
COVID 19 Associate 36275702
Diabetes Mellitus Type 2 Associate 36104772
Epidermodysplasia Verruciformis Associate 35202881