Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2812
MIM: 138720
HGNC: 4440
Ensembl: ENSG00000203618
Variants:
dbSNP: 2812
ClinVar: 2812
TCGA: ENSG00000203618
COSMIC: GP1BB
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000203618 | ENST00000366425 | P13224 |
Pathways
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA26716 | COL3A1 | Gene | Pathway | associated | 20938371 | ||
| PA26717 | COL4A1 | Gene | Pathway | associated | 20938371 | ||
| PA26718 | COL4A2 | Gene | Pathway | associated | 20938371 | ||
| PA33384 | PLCB1 | Gene | Pathway | associated | 20938371 | ||
| PA33393 | PLCG2 | Gene | Pathway | associated | 20938371 | ||
| PA35041 | COL1A1 | Gene | Pathway | associated | 20938371 | ||
| PA35042 | COL1A2 | Gene | Pathway | associated | 20938371 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36539614 | 2023 | GP1BB c.179C > T is the most frequent cause of monoallelic Bernard-Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families. | 0 |
| 36539614 | 2023 | GP1BB c.179C > T is the most frequent cause of monoallelic Bernard-Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families. | 0 |
| 33813986 | 2022 | A novel frameshift GP1BB mutation causes autosomal dominant macrothrombocytopenia with decreased vWF receptor expression but normal platelet aggregation. | 1 |
| 36173017 | 2022 | Biological, clinical features and modelling of heterozygous variants of glycoprotein Ib platelet subunit alpha (GP1BA) and glycoprotein Ib platelet subunit beta (GP1BB) genes responsible for constitutional thrombocytopenia. | 1 |
| 33813986 | 2022 | A novel frameshift GP1BB mutation causes autosomal dominant macrothrombocytopenia with decreased vWF receptor expression but normal platelet aggregation. | 1 |
| 36173017 | 2022 | Biological, clinical features and modelling of heterozygous variants of glycoprotein Ib platelet subunit alpha (GP1BA) and glycoprotein Ib platelet subunit beta (GP1BB) genes responsible for constitutional thrombocytopenia. | 1 |
| 34638529 | 2021 | A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly. | 0 |
| 34638529 | 2021 | A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly. | 0 |
| 31997307 | 2020 | High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard-Soulier syndrome in French patients from the genetic isolate of Reunion Island. | 2 |
| 33216977 | 2020 | A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia. | 1 |
| 31997307 | 2020 | High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard-Soulier syndrome in French patients from the genetic isolate of Reunion Island. | 2 |
| 33216977 | 2020 | A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia. | 1 |
| 29527674 | 2019 | New heterozygous variant in GP1BB gene is responsible for an inherited form of macrothrombocytopenia. | 2 |
| 30549403 | 2019 | Hemizygosity for the gene encoding glycoprotein Ibβ is not responsible for macrothrombocytopenia and bleeding in patients with 22q11 deletion syndrome. | 5 |
| 29527674 | 2019 | New heterozygous variant in GP1BB gene is responsible for an inherited form of macrothrombocytopenia. | 2 |
Citation
Dessen P
GP1BB (glycoprotein Ib platelet subunit beta)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/63916/gp1bb-(glycoprotein-ib-platelet-subunit-beta)
