GP9 Chromosome 3
Glycoprotein IX platelet
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What This Gene Does
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. The complete receptor complex includes noncovalent association of the alpha and beta subunits with the protein encoded by this gene and platelet glycoprotein V. Defects in this gene are a cause of Bernard-Soulier syndrome, also known as giant platelet disease. These patients have unusually large platelets and have a clinical bleeding tendency. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
CD molecules
Locus Type
gene with protein product
Location
3q21.3
Ensembl
ENSG00000169704
Associated Conditions (6)
Inborn genetic diseases
Thrombocytopenia
Bernard Soulier syndrome
Bernard-Soulier syndrome type C
Macrothrombocytopenia
GP9-related disorder
Key Variants
RS146025958
Conflicting classifications of pathogenicity
Inborn genetic diseases, Thrombocytopenia, Inborn genetic diseases
Health Risk
RS182464550
Conflicting classifications of pathogenicity
Bernard Soulier syndrome, Bernard Soulier syndrome
Health Risk
RS1946583076
Conflicting classifications of pathogenicity
Bernard Soulier syndrome, Bernard Soulier syndrome
Health Risk
RS200376043
Conflicting classifications of pathogenicity
Bernard Soulier syndrome, Bernard Soulier syndrome
Health Risk
RS566144272
Conflicting classifications of pathogenicity
Bernard Soulier syndrome, Bernard Soulier syndrome
Health Risk
RS764919230
Conflicting classifications of pathogenicity
Bernard Soulier syndrome, Bernard Soulier syndrome
Health Risk
RS767278544
Conflicting classifications of pathogenicity
Bernard Soulier syndrome, Bernard Soulier syndrome
Health Risk
RS886057964
Conflicting classifications of pathogenicity
Bernard Soulier syndrome, Bernard Soulier syndrome
Health Risk
RS887132252
Conflicting classifications of pathogenicity
Health Risk
RS121918038
Likely pathogenic
Bernard-Soulier syndrome type C, Bernard Soulier syndrome, Bernard-Soulier syndrome type C
Health Risk
RS1297298519
Likely pathogenic
Macrothrombocytopenia, Bernard Soulier syndrome, Macrothrombocytopenia
Health Risk
RS1946586230
Likely pathogenic
Bernard Soulier syndrome, Bernard Soulier syndrome
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146025958 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Thrombocytopenia, Inborn genetic diseases |
| RS182464550 | Health Risk | Conflicting classifications of pathogenicity | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS1946583076 | Health Risk | Conflicting classifications of pathogenicity | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS200376043 | Health Risk | Conflicting classifications of pathogenicity | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS566144272 | Health Risk | Conflicting classifications of pathogenicity | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS764919230 | Health Risk | Conflicting classifications of pathogenicity | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS767278544 | Health Risk | Conflicting classifications of pathogenicity | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS886057964 | Health Risk | Conflicting classifications of pathogenicity | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS887132252 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS121918038 | Health Risk | Likely pathogenic | Bernard-Soulier syndrome type C, Bernard Soulier syndrome, Bernard-Soulier syndrome type C |
| RS1297298519 | Health Risk | Likely pathogenic | Macrothrombocytopenia, Bernard Soulier syndrome, Macrothrombocytopenia |
| RS1946586230 | Health Risk | Likely pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS2529777394 | Health Risk | Likely pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS28933377 | Health Risk | Likely pathogenic | Bernard-Soulier syndrome type C, Bernard Soulier syndrome, Bernard-Soulier syndrome type C |
| RS28933378 | Health Risk | Likely pathogenic | Bernard-Soulier syndrome type C, Bernard Soulier syndrome, Bernard-Soulier syndrome type C |
| RS769561588 | Health Risk | Likely pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS121918036 | Health Risk | Pathogenic | Bernard-Soulier syndrome type C, Bernard-Soulier syndrome type C |
| RS2529776935 | Health Risk | Pathogenic | — |
| RS2529776939 | Health Risk | Pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS5030764 | Health Risk | Pathogenic | Bernard-Soulier syndrome type C, Bernard Soulier syndrome, Macrothrombocytopenia |
| RS121918037 | Health Risk | Pathogenic/Likely pathogenic | Bernard-Soulier syndrome type C, Macrothrombocytopenia, Bernard Soulier syndrome |