GP1BA Chromosome 17
Glycoprotein Ib platelet subunit alpha
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What This Gene Does
Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013]
Gene Info
Gene Group
"CD molecules|Human platelet antigens"
Locus Type
gene with protein product
Location
17p13.2
Ensembl
ENSG00000185245
Associated Conditions (14)
Macrothrombocytopenia
GP1BA-related disorder
Inborn genetic diseases
Bernard Soulier syndrome
Bernard-Soulier syndrome
type A2
autosomal dominant
Thrombocytopenia
Abnormal bleeding
Nonarteritic anterior ischemic optic neuropathy
susceptibility to
Pseudo von Willebrand disease
type A1
Impaired ristocetin-induced platelet aggregation
Key Variants
RS1597638398
Conflicting classifications of pathogenicity
Macrothrombocytopenia, GP1BA-related disorder, Macrothrombocytopenia
Health Risk
RS201621946
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS760759446
Conflicting classifications of pathogenicity
Bernard Soulier syndrome, Bernard-Soulier syndrome, type A2
Health Risk
RS765422613
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS121908063
Likely pathogenic
Bernard-Soulier syndrome, type A2, autosomal dominant
Health Risk
RS1375190381
Likely pathogenic
Bernard Soulier syndrome, Bernard Soulier syndrome
Health Risk
RS1555549041
Likely pathogenic
Bernard Soulier syndrome, Bernard Soulier syndrome
Health Risk
RS1597638300
Likely pathogenic
Macrothrombocytopenia, Bernard-Soulier syndrome, type A2
Health Risk
RS1597638681
Likely pathogenic
Thrombocytopenia, Thrombocytopenia
Health Risk
RS1597638745
Likely pathogenic
Macrothrombocytopenia, Thrombocytopenia, Bernard-Soulier syndrome
Health Risk
RS1597638753
Likely pathogenic
Thrombocytopenia, Thrombocytopenia
Health Risk
RS1597639057
Likely pathogenic
Thrombocytopenia, Thrombocytopenia
Health Risk
All Variants (47)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1597638398 | Health Risk | Conflicting classifications of pathogenicity | Macrothrombocytopenia, GP1BA-related disorder, Macrothrombocytopenia |
| RS201621946 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS760759446 | Health Risk | Conflicting classifications of pathogenicity | Bernard Soulier syndrome, Bernard-Soulier syndrome, type A2 |
| RS765422613 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS121908063 | Health Risk | Likely pathogenic | Bernard-Soulier syndrome, type A2, autosomal dominant |
| RS1375190381 | Health Risk | Likely pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS1555549041 | Health Risk | Likely pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS1597638300 | Health Risk | Likely pathogenic | Macrothrombocytopenia, Bernard-Soulier syndrome, type A2 |
| RS1597638681 | Health Risk | Likely pathogenic | Thrombocytopenia, Thrombocytopenia |
| RS1597638745 | Health Risk | Likely pathogenic | Macrothrombocytopenia, Thrombocytopenia, Bernard-Soulier syndrome |
| RS1597638753 | Health Risk | Likely pathogenic | Thrombocytopenia, Thrombocytopenia |
| RS1597639057 | Health Risk | Likely pathogenic | Thrombocytopenia, Thrombocytopenia |
| RS1597640885 | Health Risk | Likely pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS1970365829 | Health Risk | Likely pathogenic | Abnormal bleeding, Thrombocytopenia, Abnormal bleeding |
| RS1970392127 | Health Risk | Likely pathogenic | — |
| RS2151107674 | Health Risk | Likely pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS2151107696 | Health Risk | Likely pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS2151107705 | Health Risk | Likely pathogenic | Bernard-Soulier syndrome, type A2, autosomal dominant |
| RS2151108313 | Health Risk | Likely pathogenic | — |
| RS2151108738 | Health Risk | Likely pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS2507592636 | Health Risk | Likely pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS2507593310 | Health Risk | Likely pathogenic | Bernard Soulier syndrome, Nonarteritic anterior ischemic optic neuropathy, susceptibility to |
| RS2507593916 | Health Risk | Likely pathogenic | Bernard-Soulier syndrome, type A1, Bernard-Soulier syndrome |
| RS759573909 | Health Risk | Likely pathogenic | Bernard Soulier syndrome, Bernard-Soulier syndrome, type A2 |
| RS767224320 | Health Risk | Likely pathogenic | Bernard-Soulier syndrome, type A2, autosomal dominant |
| RS771048666 | Health Risk | Likely pathogenic | Bernard Soulier syndrome, Bernard-Soulier syndrome, type A2 |
| RS121908061 | Health Risk | Pathogenic | Bernard-Soulier syndrome, type A1, Bernard-Soulier syndrome |
| RS121908062 | Health Risk | Pathogenic | Pseudo von Willebrand disease, Pseudo von Willebrand disease, Pseudo von Willebrand disease |
| RS121908065 | Health Risk | Pathogenic | Bernard-Soulier syndrome, type A1, type A2 |
| RS1312683854 | Health Risk | Pathogenic | — |
| RS1394634674 | Health Risk | Pathogenic | Bernard-Soulier syndrome, type A1, type A2 |
| RS1597638379 | Health Risk | Pathogenic | Macrothrombocytopenia, Macrothrombocytopenia |
| RS2151107661 | Health Risk | Pathogenic | Bernard-Soulier syndrome, type A2, autosomal dominant |
| RS2151107940 | Health Risk | Pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS2151107964 | Health Risk | Pathogenic | Pseudo von Willebrand disease, Pseudo von Willebrand disease |
| RS2151108403 | Health Risk | Pathogenic | Pseudo von Willebrand disease, Pseudo von Willebrand disease |
| RS2507594247 | Health Risk | Pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS2507595200 | Health Risk | Pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS267606849 | Health Risk | Pathogenic | Bernard-Soulier syndrome, type A1, type A2 |
| RS753768072 | Health Risk | Pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS763978422 | Health Risk | Pathogenic | Bernard Soulier syndrome, Bernard-Soulier syndrome, type A2 |
| RS765474118 | Health Risk | Pathogenic | Pseudo von Willebrand disease, Pseudo von Willebrand disease |
| RS773663190 | Health Risk | Pathogenic | Thrombocytopenia, Abnormal bleeding, Bernard-Soulier syndrome |
| RS774388410 | Health Risk | Pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS781541857 | Health Risk | Pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS121908064 | Health Risk | Pathogenic/Likely pathogenic | Pseudo von Willebrand disease, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation |
| RS1597638598 | Health Risk | Pathogenic/Likely pathogenic | Thrombocytopenia, Bernard-Soulier syndrome, type A2 |