Search for a gene
ITGA2B - integrin subunit alpha 2b
- Synonym(s) : CD41, CD41B, platelet glycoprotein IIb of IIb/IIIa complex, PPP1R93, protein phosphatase 1, regulatory subunit 93
- Previous symbols and names : GP2B, integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41), integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)
- Type : gene with protein product
- Chromosomal location : 17q21.31
- OMIM: 607759
- HGNC: 6138
- UniProtKB: P08514
- Genatlas: ITGA2B
- GenCC: ITGA2B
- Ensembl: ENSG00000005961
- IUPHAR-DB: 2441
- Reactome: P08514
- LOVD: ITGA2B
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant macrothrombocytopenia
ORPHA:140957 - Disease-causing germline mutation(s) in Glanzmann thrombasthenia
ORPHA:849 - Candidate gene tested in Fetal and neonatal alloimmune thrombocytopenia
ORPHA:853

Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.