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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 nameGene Name - the full gene name approved by the HGNC.
Glycoprotein IX platelet
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
GP9
SynonymsGene synonyms aliases
CD42a, GPIX
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q21.3
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
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
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 1730602, 18674540, 18789323, 25416956, 29187380, 31515488
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane TAS 2771955
GO:0007155 Process Cell adhesion IEA
GO:0007596 Process Blood coagulation TAS
Other IDsOther 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
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Asthma Asthma rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283
Barber say syndrome Barber Say syndrome rs1553565143, rs1553565140, rs869320750 21357716
Bernard soulier syndrome Bernard-Soulier Syndrome, Bernard-Soulier Syndrome, Type C rs121908061, rs121908063, rs121908065, rs267606849, rs5030764, rs121918036, rs121918037, rs28933377, rs28933378, rs121909750, rs121909752, rs730882059, rs587783648, rs1394634674, rs1555549041, rs1297298519, rs1597638598, rs1597638745, rs1601248210, rs1601248889, rs1360071443, rs1601249021, rs763978422 25370924, 8481514, 11758225, 22886561, 11167791, 10583255, 9886312, 14510954, 16916536, 15609295, 12100158, 21113250, 21173099, 9163595, 8049428, 8089142, 23143686, 21357716, 28650483, 31064749, 23402648, 9432024, 23995613, 21699652
Brooke-spiegler syndrome Brooke-Spiegler syndrome rs121908388, rs1597088499, rs121908389, rs121908390, rs1597052041, rs886040870, rs886040874, rs886040875, rs886040884, rs886040885, rs886040888 21357716
Unknown
Disease name Disease term dbSNP ID References
Deficiency of platelet glycoprotein 1b Deficiency of Platelet Glycoprotein 1b
Hematomas Spontaneous hematomas

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