GP1BB Chromosome 22
Glycoprotein Ib platelet subunit beta
Upload your DNA to see your personal genotypes for variants in GP1BB.
What This Gene Does
Platelet glycoprotein Ib (GPIb) is a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alpha chain and 22 kD beta chain. It is part of the GPIb-V-IX system that constitutes the receptor for von Willebrand factor (VWF), and mediates platelet adhesion in the arterial circulation. GPIb alpha chain provides the VWF binding site, and GPIb beta contributes to surface expression of the receptor and participates in transmembrane signaling through phosphorylation of its intracellular domain. Mutations in the GPIb beta subunit have been associated with Bernard-Soulier syndrome, velocardiofacial syndrome and giant platelet disorder. The 206 amino acid precursor of GPIb beta is synthesized from a 1.0 kb mRNA expressed in plateletes and megakaryocytes. A 411 amino acid protein arising from a longer, unspliced transcript in endothelial cells has been described; however, the authenticity of this product has been questioned. Yet another less abundant GPIb beta mRNA species of 3.5 kb, expressed in nonhematopoietic tissues such as endothelium, brain and heart, was shown to result from inefficient usage of a non-consensus polyA signal in the neighboring upstream gene (SEPT5, septin 5). In the absence of polyadenylation from its own imperfect site, the SEPT5 gene produces read-through transcripts that use the consensus polyA signal of this gene. [provided by RefSeq, Dec 2010]
Gene Info
Gene Group
"CD molecules|Human platelet antigens"
Locus Type
gene with protein product
Location
22q11.21
Ensembl
ENSG00000203618
Associated Conditions (11)
MACROTHROMBOCYTOPENIA
FAMILIAL
BERNARD-SOULIER TYPE
Bernard Soulier syndrome
Thrombocytopenia
Bernard-Soulier syndrome
type B
Macrothrombocytopenia
Increased mean platelet volume
Mild macrothrombocytopenia
GP1BB-related disorder
Key Variants
RS121909750
Conflicting classifications of pathogenicity
MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE
Health Risk
RS142352780
Conflicting classifications of pathogenicity
Health Risk
RS1601248578
Conflicting classifications of pathogenicity
Thrombocytopenia, Bernard Soulier syndrome, Thrombocytopenia
Health Risk
RS779021847
Conflicting classifications of pathogenicity
Health Risk
RS1197982563
Likely pathogenic
Bernard Soulier syndrome, Bernard Soulier syndrome
Health Risk
RS121909752
Likely pathogenic
Bernard-Soulier syndrome, type B, Thrombocytopenia
Health Risk
RS1254692009
Likely pathogenic
Macrothrombocytopenia, Macrothrombocytopenia
Health Risk
RS1389191920
Likely pathogenic
Mild macrothrombocytopenia, Bernard Soulier syndrome, Mild macrothrombocytopenia
Health Risk
RS1402804629
Likely pathogenic
Bernard Soulier syndrome, Bernard Soulier syndrome
Health Risk
RS1402823262
Likely pathogenic
Bernard Soulier syndrome, Bernard Soulier syndrome
Health Risk
RS1601247763
Likely pathogenic
Macrothrombocytopenia, Macrothrombocytopenia
Health Risk
RS1601248210
Likely pathogenic
Thrombocytopenia, Macrothrombocytopenia, Bernard Soulier syndrome
Health Risk
All Variants (39)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121909750 | Health Risk | Conflicting classifications of pathogenicity | MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE |
| RS142352780 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1601248578 | Health Risk | Conflicting classifications of pathogenicity | Thrombocytopenia, Bernard Soulier syndrome, Thrombocytopenia |
| RS779021847 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1197982563 | Health Risk | Likely pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS121909752 | Health Risk | Likely pathogenic | Bernard-Soulier syndrome, type B, Thrombocytopenia |
| RS1254692009 | Health Risk | Likely pathogenic | Macrothrombocytopenia, Macrothrombocytopenia |
| RS1389191920 | Health Risk | Likely pathogenic | Mild macrothrombocytopenia, Bernard Soulier syndrome, Mild macrothrombocytopenia |
| RS1402804629 | Health Risk | Likely pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS1402823262 | Health Risk | Likely pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS1601247763 | Health Risk | Likely pathogenic | Macrothrombocytopenia, Macrothrombocytopenia |
| RS1601248210 | Health Risk | Likely pathogenic | Thrombocytopenia, Macrothrombocytopenia, Bernard Soulier syndrome |
| RS1601248245 | Health Risk | Likely pathogenic | Macrothrombocytopenia, Macrothrombocytopenia |
| RS1601248530 | Health Risk | Likely pathogenic | Macrothrombocytopenia, Macrothrombocytopenia |
| RS1601248859 | Health Risk | Likely pathogenic | Macrothrombocytopenia, Thrombocytopenia, Macrothrombocytopenia |
| RS1601248889 | Health Risk | Likely pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS1601249021 | Health Risk | Likely pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS2145795850 | Health Risk | Likely pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS2145796039 | Health Risk | Likely pathogenic | — |
| RS2145796172 | Health Risk | Likely pathogenic | — |
| RS2145796512 | Health Risk | Likely pathogenic | — |
| RS2517804426 | Health Risk | Likely pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS2517804907 | Health Risk | Likely pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS2517805000 | Health Risk | Likely pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS2517805015 | Health Risk | Likely pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS2517805526 | Health Risk | Likely pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS2517805607 | Health Risk | Likely pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS2517805750 | Health Risk | Likely pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS587783648 | Health Risk | Likely pathogenic | Bernard-Soulier syndrome, type B, GP1BB-related disorder |
| RS953345181 | Health Risk | Likely pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS1216332861 | Health Risk | Pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS121909751 | Health Risk | Pathogenic | MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE |
| RS1360071443 | Health Risk | Pathogenic | Macrothrombocytopenia, Thrombocytopenia, Bernard Soulier syndrome |
| RS1375840544 | Health Risk | Pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS2145796221 | Health Risk | Pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS2145796556 | Health Risk | Pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS2517804321 | Health Risk | Pathogenic | Bernard Soulier syndrome, Bernard Soulier syndrome |
| RS536874549 | Health Risk | Pathogenic | Thrombocytopenia, Bernard Soulier syndrome, Thrombocytopenia |
| RS730882059 | Health Risk | Pathogenic | Bernard-Soulier syndrome, type B, Bernard-Soulier syndrome |