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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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GP9
glycoprotein IX platelet
Chromosome 3 Β· 3q21.3
NCBI Gene: 2815Ensembl: ENSG00000169704.6HGNC: HGNC:4444UniProt: P14770
77PubMed Papers
21Diseases
0Drugs
27Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of platelet activationprotein bindingrelease of sequestered calcium ion into cytosolblood coagulation, intrinsic pathwayBernard-Soulier syndromeMacrothrombocytopeniaBrooke-Spiegler syndromeBarber-Say syndrome
✦AI Summary

GP9 encodes glycoprotein IX (GPIX), a critical subunit of the platelet GPIb-V-IX complex that functions as the von Willebrand factor (vWF) receptor 1. This complex mediates vWF-dependent platelet adhesion to vascular subendothelium, an essential initiating event in hemostasis 1. GP9 appears to facilitate proper membrane insertion and orientation of GPIb within this multisubunit receptor complex 2. The GPIb-V-IX complex enables platelet aggregation in response to ristocetin and primary hemostatic responses at sites of vascular injury 2. Bernard-Soulier syndrome (BSS) type C results from biallelic or heterozygous GP9 mutations, causing deficiency or dysfunction of the GPIb-V-IX complex 34. This leads to macrothrombocytopenia (giant platelets), thrombocytopenia, and severe bleeding tendency with manifestations including purpura, epistaxis, and menorrhagia 1. GP9 mutations account for 44% of BSS cases among 211 characterized families 2. A zebrafish gp9 knockout model demonstrated that GP9 disruption causes thrombocytopenia, bleeding tendency, and abnormal progenitor cell expansion, validating GP9's conserved role in thrombopoiesis 3. Recent gene therapy approaches using lentiviral vectors successfully restored GPIX expression and corrected the BSS phenotype in patient-derived cells 5, suggesting potential therapeutic interventions for this rare bleeding disorder.

Sources cited
1
GP9 mutations cause Bernard-Soulier syndrome; GPIb-V-IX complex binds von Willebrand factor for platelet adhesion; clinical manifestations include macrothrombocytopenia and bleeding
PMID: 17109744
2
GP9 mutations account for 44% of BSS cases; mutations prevent expression or vWF interaction of GPIb-V-IX complex; 112 different variants identified in 211 families
PMID: 24934643
3
GP9 disruption in zebrafish causes thrombocytopenia and bleeding tendency; establishes BSS animal model; GP9 role in thrombopoiesis is conserved
PMID: 34407604
4
Heterozygous GP9 mutations cause moderate macrothrombocytopenia; GP9 variants reduce vWF affinity; SRC pathway inhibitors can restore platelet phenotype
PMID: 40045897
5
Lentiviral gene therapy restores GPIX expression in BSS type C patient cells; corrects platelet size and GPIX membrane localization
PMID: 37416759
6
GP9 exosomal protein is downregulated in myocardial infarction patients; identified as potential MI biomarker
PMID: 40305362
Disease Associationsβ“˜21
Bernard-Soulier syndromeOpen Targets
0.82Strong
MacrothrombocytopeniaOpen Targets
0.46Moderate
Barber-Say syndromeOpen Targets
0.37Weak
Brooke-Spiegler syndromeOpen Targets
0.37Weak
ThrombocytopeniaOpen Targets
0.31Weak
genetic disorderOpen Targets
0.19Weak
gastrointestinal diseaseOpen Targets
0.14Weak
autosomal dominant macrothrombocytopeniaOpen Targets
0.06Suggestive
macrothrombocytopenia, isolated, 2, autosomal dominantOpen Targets
0.06Suggestive
thrombocytopenia 4Open Targets
0.06Suggestive
thrombocytopenia 2Open Targets
0.05Suggestive
platelet-type bleeding disorder 15Open Targets
0.05Suggestive
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossOpen Targets
0.05Suggestive
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndromeOpen Targets
0.05Suggestive
platelet-type bleeding disorder 10Open Targets
0.04Suggestive
chronic lymphocytic leukemiaOpen Targets
0.04Suggestive
thrombocytopenia 7Open Targets
0.04Suggestive
bleeding disorder, platelet-type, 24Open Targets
0.04Suggestive
chronic myelogenous leukemiaOpen Targets
0.04Suggestive
acute megakaryoblastic leukaemiaOpen Targets
0.04Suggestive
Bernard-Soulier syndromeUniProt
Pathogenic Variants27
NM_000174.5(GP9):c.167T>C (p.Leu56Pro)Likely pathogenic
Bernard-Soulier syndrome type C|Bernard Soulier syndrome
β˜…β˜…β˜…β˜†2025β†’ Residue 56
NM_000174.5(GP9):c.112T>C (p.Cys38Arg)Likely pathogenic
Bernard Soulier syndrome
β˜…β˜…β˜…β˜†2025β†’ Residue 38
NM_000174.5(GP9):c.285T>G (p.Tyr95Ter)Likely pathogenic
Bernard Soulier syndrome
β˜…β˜…β˜…β˜†2025β†’ Residue 95
NM_000174.5(GP9):c.20T>C (p.Leu7Pro)Likely pathogenic
Bernard-Soulier syndrome type C|not provided|Bernard Soulier syndrome
β˜…β˜…β˜…β˜†2025β†’ Residue 7
NM_000174.5(GP9):c.119del (p.Gly40fs)Likely pathogenic
not provided|Bernard Soulier syndrome
β˜…β˜…β˜…β˜†2025β†’ Residue 40
NM_000174.5(GP9):c.437_474dup (p.Ala159fs)Likely pathogenic
Bernard Soulier syndrome
β˜…β˜…β˜…β˜†2025β†’ Residue 159
NM_000174.5(GP9):c.450G>A (p.Trp150Ter)Likely pathogenic
Bernard Soulier syndrome
β˜…β˜…β˜…β˜†2025β†’ Residue 150
NM_000174.5(GP9):c.70T>C (p.Cys24Arg)Likely pathogenic
Bernard-Soulier syndrome type C|not provided|Bernard Soulier syndrome
β˜…β˜…β˜…β˜†2025β†’ Residue 24
NM_000174.5(GP9):c.266G>A (p.Cys89Tyr)Pathogenic
Bernard Soulier syndrome
β˜…β˜…β˜…β˜†2025β†’ Residue 89
NM_000174.5(GP9):c.305_313del (p.Asp102_Pro105delinsAla)Likely pathogenic
Bernard Soulier syndrome
β˜…β˜…β˜…β˜†2025β†’ Residue 102
NM_000174.5(GP9):c.182A>G (p.Asn61Ser)Pathogenic
Bernard-Soulier syndrome type C|Bernard Soulier syndrome|Macrothrombocytopenia|Thrombocytopenia|not provided|GP9-related disorder
β˜…β˜…β˜…β˜†2025β†’ Residue 61
NM_000174.5(GP9):c.212T>G (p.Phe71Cys)Pathogenic
not provided|Bernard Soulier syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 71
NM_000174.5(GP9):c.212T>C (p.Phe71Ser)Pathogenic
Bernard-Soulier syndrome type C|Macrothrombocytopenia|not provided|Bernard Soulier syndrome
β˜…β˜…β˜†β˜†2023β†’ Residue 71
NM_000174.5(GP9):c.46dup (p.Ala16fs)Pathogenic
Bernard Soulier syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 16
NM_000174.5(GP9):c.337del (p.Cys113fs)Likely pathogenic
Macrothrombocytopenia|Bernard Soulier syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 113
NM_000174.5(GP9):c.261G>A (p.Trp87Ter)Likely pathogenic
Bernard Soulier syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 87
NM_000174.5(GP9):c.429G>A (p.Trp143Ter)Likely pathogenic
Bernard Soulier syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 143
NM_000174.5(GP9):c.342_361dup (p.His121fs)Likely pathogenic
Bernard Soulier syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 121
NM_000174.5(GP9):c.34del (p.Ala12fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 12
NM_000174.5(GP9):c.70_74delinsGTGGG (p.Cys24_Thr25delinsValGly)Likely pathogenic
Bernard Soulier syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 24
View on ClinVar β†—
Related Genes
SELPProtein interaction100%ITGB3Protein interaction100%PF4Protein interaction93%LYNProtein interaction92%CD36Protein interaction92%GTPBP1Protein interaction92%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
61%
Liver
6%
Ovary
2%
Brain
1%
Heart
0%
Gene Interaction Network
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GP9SELPITGB3PF4LYNCD36GTPBP1
PROTEIN STRUCTURE
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PDB3REZ Β· 2.35 Γ… Β· X-ray
View on RCSB β†—
RankingsWhere GP9 stands among ~20K protein-coding genes
  • #6,163of 20,598
    Most Researched77
  • #1,903of 5,498
    Most Pathogenic Variants27
Genes detectedGP9
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Mendelian randomization analysis identifies druggable genes and drugs repurposing for chronic obstructive pulmonary disease.
PMID: 38660492
Front Cell Infect Microbiol Β· 2024
1.00
2
Establishment of a Bernard-Soulier syndrome model in zebrafish.
PMID: 34407604
Haematologica Β· 2022
0.90
3
Increased RhoA pathway activation downstream of Ξ±IIbΞ²3/SRC contributes to heterozygous Bernard Soulier syndrome.
PMID: 40045897
Haematologica Β· 2025
0.80
4
Plasma Exosomal Proteomics Identifies Differentially Expressed Proteins as Biomarkers for Acute Myocardial Infarction.
PMID: 40305362
Biomolecules Β· 2025
0.70
5
Spectrum of the mutations in Bernard-Soulier syndrome.
PMID: 24934643
Hum Mutat Β· 2014
0.60