MS4A2 (Membrane Spanning 4-Domains A2)
High-affinity IgE receptor beta subunit; key regulator of allergic inflammation and mast cell activation
Gene Information Card
| Symbol | MS4A2 |
|---|---|
| Full Name | Membrane Spanning 4-Domains A2 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q12.1 |
| NCBI Gene ID | 2206 ncbi.nlm.nih.gov/gene/2206 |
| Ensembl ID | ENSG00000149534 |
| UniProt ID | Q01362 |
| OMIM ID | 147138 |
| HGNC ID | 7316 |
| Aliases | FCER1B, IGER, APY, ATOPY, IGHER |
Description
MS4A2 encodes the beta subunit of the high-affinity IgE receptor (FcεRI), a tetrameric complex (αβγ2) expressed on mast cells and basophils. The beta subunit amplifies IgE-mediated signaling by stabilizing the receptor and enhancing downstream activation of Syk and MAP kinases. MS4A2 polymorphisms are associated with atopy, asthma, and anaphylaxis. The gene belongs to the MS4A family, which includes CD20 and FcεRI beta.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Atopic asthma | Enhanced FcεRI signaling due to gain-of-function variants increases mast cell degranulation | OMIM, ClinVar |
| Allergic rhinitis | Polymorphisms in MS4A2 promoter alter receptor expression levels | NCBI Gene, GWAS Catalog |
| Anaphylaxis | Beta subunit amplification of IgE signals predisposes to severe systemic reactions | OMIM, UniProt |
| Atopic dermatitis | MS4A2 variants linked to elevated IgE and skin mast cell activity | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Mast cells | High | High |
| Basophils | High | High |
| Lung | Moderate | Medium |
| Skin | Moderate | Medium |
| Spleen | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HMC-1 (mast cell line) | High | Model for IgE signaling studies |
| KU812 (basophil line) | High | Used in degranulation assays |
| RBL-2H3 (rat basophilic leukemia) | High | Common heterologous expression system |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.109G>A (p.Glu37Lys) | Missense | Rare | Alters receptor stability; associated with atopy |
| c.172A>G (p.Ile58Val) | Missense | Common (MAF ~0.15) | Modest effect on IgE binding; linked to asthma |
| c.237+1G>A | Splice donor | Rare | Loss of function; reduced mast cell activation |
Mutation functional classification
Loss of Function (LOF)
Splice-site variants (e.g., c.237+1G>A) reduce FcεRI beta expression, dampening IgE signaling.
Gain of Function (GOF)
Missense variants (e.g., p.Glu37Lys) enhance receptor stability and amplify degranulation.
Dominant Negative (DN)
Not reported for MS4A2.
View complete mutation data：
Gene Ontology (GO)
| • IgE binding | • Fc receptor signaling pathway |
| • mast cell activation | • positive regulation of mast cell degranulation |
| • plasma membrane |
Pathways
• Fc epsilon RI signaling pathway (KEGG: hsa04664)
• IgE-mediated mast cell activation (Reactome: R-HSA-2454202)
Protein Summary
MS4A2 encodes a 243-amino-acid transmembrane protein with four membrane-spanning domains. It functions as the beta chain of the high-affinity IgE receptor (FcεRI). The beta subunit amplifies IgE-mediated signals by recruiting Lyn kinase and enhancing Syk activation. It is essential for mast cell and basophil degranulation, cytokine release, and allergic inflammation. Mutations and polymorphisms in MS4A2 are linked to atopic diseases, asthma, and anaphylaxis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MS4A2 Knockout HEK293 Cell Line | EDJ-KQ1703 | Human | 2206 | Details Get a Quote |
| MS4A2 Knockout HeLa Cell Line | EDJ-KQ53204 | Human | 2206 | Details Get a Quote |
| MS4A2 Knockout A-549 Cell Line | EDJ-KQ61685 | Human | 2206 | Details Get a Quote |
| MS4A2 Knockout HCT 116 Cell Line | EDJ-KQ70171 | Human | 2206 | Details Get a Quote |
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