Property Summary

NCBI Gene PubMed Count 66
PubMed Score 56.37
PubTator Score 57.68

Knowledge Summary


No data available


Accession P13224 Q14422 Q8NG40 GP-Ib beta
Symbols BS



3REZ   3RFE  

  Ortholog (8)

Gene RIF (36)

26275786 Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ibbeta in a patient with Bernard-Soulier syndrome.
26203189 Data show that localization of the GP Ib-IX complex to the lipid domain is mediated by GP Ibbeta and GP IX transmembrane domains.
23995613 genetic association study in population in western India: Data suggest novel mutations in platelet glycoprotein Ib (GP1BA, GP1BB) and GP9 are associated with Bernard-Soulier syndrome in subjects studies; of 12 mutations identified, ten were novel.
23929303 Studies indicate that platelets from Bernard-Soulier syndrome (BSS) are defective in glycoprotein (GP)Ib-IX-V, a platelet-specific adhesion-signaling complex, composed of GPIbalpha disulfide linked to GPIbbeta, and noncovalently associated with GPIX and GPV.
23566026 a suspicion of 22q11.2 deletion is warranted in pediatric BSS patients with a mutation in the GPIbbeta gene, even without remarkable symptoms.
22343686 A 14-month-old boy with Bernard-Soulier syndrome was found to be homozygous for a nonsense mutation (c.423C > A) in the glycoprotein Ib-beta.
21908432 GPIbbeta missense mutations from Bernard-Soulier syndrome were examined for changes to GPIb-IX complex surface expression. Mutations A108P and P74R were found to maintain normal secretion/folding of GPIbbeta(E) but were unable to support GPIX surface expression
21699652 Report glycoprotein Ib/IX complex mutations found in Bernard-Soulier syndrome in Indian patients.
21529934 GPIIb/IIIa is the primary receptor set involved in platelet adhesion to adsorbed fibrinogen and serum albumin irrespective of their degree of adsorption-induced unfolding, while the GPIb-IX-V receptor complex plays an insignificant role.
21507943 GP Ibbeta/GP IX mediates the disulfide-linked GP Ibalpha localization to the GEMs, which is critical for vWf interaction at high shear

AA Sequence


Text Mined References (71)

PMID Year Title
26275786 2015 Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ib? in a patient with Bernard-Soulier syndrome.
26203189 2015 The Transmembrane Domains of ? and IX Subunits Mediate the Localization of the Platelet Glycoprotein Ib-IX Complex to the Glycosphingolipid-enriched Membrane Domain.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23995613 2014 Novel genetic abnormalities in Bernard-Soulier syndrome in India.
23929303 2013 Bernard-Soulier syndrome: an update.
23725790 2013 GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
23566026 2013 Bernard-Soulier syndrome caused by a hemizygous GPIb? mutation and 22q11.2 deletion.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22343686 2012 Novel mutation in the glycoprotein Ib? in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity.
21908432 2011 Quaternary organization of GPIb-IX complex and insights into Bernard-Soulier syndrome revealed by the structures of GPIb? and a GPIb?/GPIX chimera.