Gene
gp1bb
- ID
- ZDB-GENE-081104-406
- Name
- glycoprotein Ib platelet subunit beta
- Symbol
- gp1bb Nomenclature History
- Previous Names
-
- si:dkey-285c2.8 (1)
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in Bernard-Soulier syndrome. Orthologous to human GP1BB (glycoprotein Ib platelet subunit beta).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Lin et al., 2017
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Bernard-Soulier syndrome | Alliance | Bernard-Soulier syndrome, type B | 231200 |
| Bernard-Soulier syndrome | Alliance | Giant platelet disorder, isolated | 231200 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Cysteine-rich flanking region, C-terminal | Leucine-rich repeat domain superfamily | Leucine-rich repeat N-terminal domain | Platelet Glycoprotein Ib-IX-V Complex |
|---|---|---|---|---|---|
|
UniProtKB:B8JLP1
|
207 |
Interactions and Pathways
No data available
Plasmids
No data available