GP9 (glycoprotein IX platelet)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2815
Gene name Glycoprotein IX platelet
Gene symbol GP9
Synonyms (NCBI Gene)
CD42aGPIX
Chromosome 3
Chromosome location 3q21.3
Summary 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.
7
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.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT017185 hsa-miR-335-5p Microarray 18185580
MIRT022106 hsa-miR-125b-5p Other 19738052
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
FLI1 Activation 10194443;15466856
GATA1 Activation 15466856
GATA1 Unknown 11418466;20564185
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
173515 4444 ENSG00000169704
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Bernard Soulier syndrome Likely pathogenic; Pathogenic rs121918037, rs1946586230, rs2529776939, rs5030764, rs28933377, rs28933378, rs121918038, rs2529777394, rs1297298519, rs769561588 RCV005419304
RCV003326697
RCV003317715
RCV000275909
RCV002222350
RCV006272359
RCV001003901
RCV006272360
RCV005648297
RCV005029413
RCV001283825
Bernard-Soulier syndrome type C Pathogenic; Likely pathogenic rs5030764, rs121918036, rs121918037, rs28933377, rs28933378, rs121918038 RCV000014484
RCV000014485
RCV000014486
RCV000014487
RCV000014488
RCV000014489
GP9-related disorder Pathogenic rs5030764 RCV003914843
Macrothrombocytopenia Pathogenic; Likely pathogenic rs5030764, rs121918037, rs1297298519 RCV000761618
RCV000852069
RCV000761617
Show/Hide Text Mining Associations (23)
Associations from Text MiningDisease 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