GP6 Chromosome 19
Glycoprotein VI platelet
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What This Gene Does
This gene encodes a platelet membrane glycoprotein of the immunoglobulin superfamily. The encoded protein is a receptor for collagen and plays a critical role in collagen-induced platelet aggregation and thrombus formation. The encoded protein forms a complex with the Fc receptor gamma-chain that initiates the platelet activation signaling cascade upon collagen binding. Mutations in this gene are a cause of platelet-type bleeding disorder-11 (BDPLT11). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
"Immunoglobulin like domain containing|Ig-like cell adhesion molecule family"
Locus Type
gene with protein product
Location
19q13.42
Ensembl
ENSG00000088053
Associated Conditions (11)
Abnormal bleeding
Thrombocytopenia
Platelet-type bleeding disorder 11
Inborn genetic diseases
GP6-related disorder
Gastric cancer
Thyroid cancer
nonmedullary
1
Lung cancer
Malignant tumor of urinary bladder
Key Variants
RS199588110
Conflicting classifications of pathogenicity
Abnormal bleeding, Thrombocytopenia, Platelet-type bleeding disorder 11
Health Risk
RS200948100
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS202044825
Conflicting classifications of pathogenicity
Health Risk
RS28969501
Conflicting classifications of pathogenicity
GP6-related disorder, Gastric cancer, Thyroid cancer
Health Risk
RS372032713
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS373346261
Conflicting classifications of pathogenicity
GP6-related disorder, Inborn genetic diseases, GP6-related disorder
Health Risk
RS751311313
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS911861220
Likely pathogenic
Health Risk
RS2074357706
Pathogenic
Health Risk
RS2146873791
Pathogenic
Platelet-type bleeding disorder 11, Platelet-type bleeding disorder 11
Health Risk
RS2514192810
Pathogenic
Health Risk
RS754929349
Pathogenic
Platelet-type bleeding disorder 11, Platelet-type bleeding disorder 11
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199588110 | Health Risk | Conflicting classifications of pathogenicity | Abnormal bleeding, Thrombocytopenia, Platelet-type bleeding disorder 11 |
| RS200948100 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS202044825 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS28969501 | Health Risk | Conflicting classifications of pathogenicity | GP6-related disorder, Gastric cancer, Thyroid cancer |
| RS372032713 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373346261 | Health Risk | Conflicting classifications of pathogenicity | GP6-related disorder, Inborn genetic diseases, GP6-related disorder |
| RS751311313 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS911861220 | Health Risk | Likely pathogenic | — |
| RS2074357706 | Health Risk | Pathogenic | — |
| RS2146873791 | Health Risk | Pathogenic | Platelet-type bleeding disorder 11, Platelet-type bleeding disorder 11 |
| RS2514192810 | Health Risk | Pathogenic | — |
| RS754929349 | Health Risk | Pathogenic | Platelet-type bleeding disorder 11, Platelet-type bleeding disorder 11 |
| RS776766695 | Health Risk | Pathogenic | — |
| RS778336022 | Health Risk | Pathogenic | Platelet-type bleeding disorder 11, Platelet-type bleeding disorder 11 |
| RS778339783 | Health Risk | Pathogenic | — |
| RS886043669 | Health Risk | Pathogenic | — |
| RS995736633 | Health Risk | Pathogenic | — |
| RS760074158 | Health Risk | Pathogenic/Likely pathogenic | Platelet-type bleeding disorder 11, Platelet-type bleeding disorder 11, Platelet-type bleeding disorder 11 |