Entity Details

Primary name GP1BA
Entity type gene
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Details

PrimaryID2811
RefseqGeneNG_008767
SymbolGP1BA
Nameglycoprotein Ib platelet subunit alpha
Chromosome17
Location17p13.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1991-08-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsGP1BA_HUMAN

GO terms

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GOName
GO:0000902 cell morphogenesis
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0007155 cell adhesion
GO:0007166 cell surface receptor signaling pathway
GO:0007596 blood coagulation
GO:0007597 blood coagulation, intrinsic pathway
GO:0009986 cell surface
GO:0015057 thrombin-activated receptor activity
GO:0016020 membrane
GO:0030168 platelet activation
GO:0030193 regulation of blood coagulation
GO:0031012 extracellular matrix
GO:0031362 anchored component of external side of plasma membrane
GO:0042730 fibrinolysis
GO:0045652 regulation of megakaryocyte differentiation
GO:0070062 extracellular exosome
GO:0070527 platelet aggregation

Diseases

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Disease IDSourceNameDescription
231200 OMIMBernard-Soulier syndrome (BSS)A coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption. The disease is caused by variants affecting the gene represented in this entry.
153670 OMIMBernard-Soulier syndrome A2, autosomal dominant (BSSA2)A coagulation disorder characterized by mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet volume. Some individuals have no symptoms. Mild bleeding tendencies manifest as epistaxis, gingival bleeding, menorrhagia, easy bruising, or prolonged bleeding after dental surgery. The disease is caused by variants affecting the gene represented in this entry.
177820 OMIMPseudo-von Willebrand disease (VWDP)A bleeding disorder characterized by abnormally enhanced binding of von Willebrand factor by the platelet glycoprotein Ib (GP Ib) receptor complex. Hemostatic function is impaired due to the removal of VWF multimers from the circulation. The disease is caused by variants affecting the gene represented in this entry.
258660 OMIMNon-arteritic anterior ischemic optic neuropathy (NAION)An ocular disease due to ischemic injury to the optic nerve. It usually affects the optic disk and leads to visual loss and optic disk swelling of a pallid nature. Visual loss is usually sudden, or over a few days at most and is usually permanent, with some recovery possibly occurring within the first weeks or months. Patients with small disks having smaller or non-existent cups have an anatomical predisposition for non-arteritic anterior ischemic optic neuropathy. As an ischemic episode evolves, the swelling compromises circulation, with a spiral of ischemia resulting in further neuronal damage. Disease susceptibility is associated with variants affecting the gene represented in this entry.