ITGA2B
Integrin Subunit Alpha 2b
Gene Information Card
| Symbol | ITGA2B |
|---|---|
| Full Name | Integrin Subunit Alpha 2b |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.32 |
| NCBI Gene ID | 3674 ncbi.nlm.nih.gov/gene/3674 |
| Ensembl ID | ENSG00000105976 |
| UniProt ID | P08514 |
| OMIM ID | 607759 |
| HGNC ID | 6138 |
| Aliases | GPIIb, CD41, ITGA2B, integrin alpha-IIb |
Description
ITGA2B encodes integrin alpha 2b (CD41), a platelet-specific glycoprotein that forms the fibrinogen receptor (αIIbβ3) on the platelet surface. This receptor is essential for platelet aggregation and hemostasis. Mutations in ITGA2B cause Glanzmann thrombasthenia, a bleeding disorder characterized by defective platelet aggregation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glanzmann thrombasthenia | Loss-of-function mutations in ITGA2B prevent αIIbβ3 complex formation, impairing fibrinogen binding and platelet aggregation. | ClinVar, OMIM |
| Platelet-type bleeding disorder 16 | Heterozygous missense variants may alter integrin activation, leading to mild bleeding tendency. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | nTPM not available | High |
| Blood (platelets) | nTPM not available | Very high |
| Spleen | nTPM not available | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Megakaryocytes | nTPM not available | High expression; ITGA2B is a megakaryocyte/platelet lineage marker |
| HEL (erythroleukemia) | nTPM not available | Expressed |
| Dami (megakaryoblastic) | nTPM not available | Expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2333G>A (p.Arg778His) | Missense | Rare | Loss of function; disrupts αIIbβ3 complex formation (ClinVar) |
| c.2671C>T (p.Arg891*) | Nonsense | Rare | Loss of function; premature truncation (ClinVar) |
| c.1544+1G>A | Splice donor | Rare | Loss of function; aberrant splicing (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
Most ITGA2B mutations are loss-of-function, leading to Glanzmann thrombasthenia (ClinVar, OMIM).
Gain of Function (GOF)
Not reported in ITGA2B; gain-of-function is associated with ITGB3 in some thrombotic disorders.
Dominant Negative (DN)
Rare; heterozygous missense variants may exert dominant-negative effects on αIIbβ3 function (ClinVar).
View complete mutation data：
Gene Ontology (GO)
| • integrin binding (GO:0005178) | • plasma membrane (GO:0005886) |
| • cell adhesion (GO:0007155) | • integrin-mediated signaling pathway (GO:0033627) |
| • blood coagulation (GO:0007596) |
Pathways
• KEGG hsa04611 – Platelet activation
• Reactome R-HSA-76009 – Platelet Aggregation (Plug Formation)
• Reactome R-HSA-354192 – Integrin alphaIIb beta3 signaling
Protein Summary
Integrin alpha-2b (CD41) is a 1039-amino-acid transmembrane protein that heterodimerizes with integrin beta-3 (ITGB3) to form the platelet fibrinogen receptor αIIbβ3. This receptor binds fibrinogen, von Willebrand factor, and other ligands to mediate platelet aggregation. The protein contains an extracellular domain with seven FG-GAP repeats, a transmembrane domain, and a short cytoplasmic tail. Mutations in ITGA2B are the primary cause of Glanzmann thrombasthenia type I (quantitative deficiency) or type II (qualitative defect).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ITGA2B Knockout HEK293 Cell Line | EDJ-KQ810 | Human | 3674 | Details Get a Quote |
| ITGA2B Knockout A-549 Cell Line | EDJ-KQ19552 | Human | 3674 | Details Get a Quote |
| ITGA2B Knockout HCT 116 Cell Line | EDJ-KQ19553 | Human | 3674 | Details Get a Quote |
| ITGA2B Knockout HeLa Cell Line | EDJ-KQ53673 | Human | 3674 | Details Get a Quote |
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