FCER1A
High-affinity IgE receptor alpha subunit
Gene Information Card
| Symbol | FCER1A |
|---|---|
| Full Name | Fc fragment of IgE receptor Ia |
| Gene Type | protein-coding |
| Chromosomal Location | 1q23.2 |
| NCBI Gene ID | 2205 ncbi.nlm.nih.gov/gene/2205 |
| Ensembl ID | ENSG00000179639 |
| UniProt ID | P12319 |
| OMIM ID | 147140 |
| HGNC ID | 3609 |
| Aliases | FcERI, FcER1A, FCE1A, IgE receptor alpha |
Description
FCER1A encodes the alpha subunit of the high-affinity IgE receptor (FcεRI), a tetrameric complex expressed on mast cells and basophils. This receptor binds IgE with high affinity and triggers allergic and inflammatory responses upon antigen cross-linking.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Allergic rhinitis | Increased FCER1A expression enhances IgE binding and mast cell degranulation | NCBI Gene, ClinVar |
| Asthma | Polymorphisms in FCER1A associated with elevated IgE levels and airway hyperresponsiveness | NCBI Gene, ClinVar |
| Atopic dermatitis | Upregulation of FcεRI on Langerhans cells promotes allergen presentation | NCBI Gene |
| Food allergy | FCER1A variants linked to higher IgE-mediated sensitivity | ClinVar |
| Urticaria | Mast cell activation via FcεRI leads to histamine release | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Whole blood | 0.0 | Not detected |
| Lymph node | 0.0 | Not detected |
| Spleen | 0.0 | Not detected |
| Bone marrow | 0.0 | Not detected |
| Skin | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Small intestine | 0.0 | Not detected |
| Colon | 0.0 | Not detected |
| Adipose tissue | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
| Muscle | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Mast cells | 0.0 | High expression in tissue-resident mast cells (not in blood) |
| Basophils | 0.0 | High expression in basophils |
| Eosinophils | 0.0 | Low expression |
| Dendritic cells | 0.0 | Expression on plasmacytoid and conventional DCs |
| Monocytes | 0.0 | Low expression |
| B cells | 0.0 | Not expressed |
| T cells | 0.0 | Not expressed |
| NK cells | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2251746 | SNP | 5% (European) | Promoter variant affecting FCER1A expression levels |
| rs2427827 | SNP | 10% (European) | Associated with total serum IgE levels |
| rs2494262 | SNP | 15% (European) | Linked to atopic dermatitis risk |
| c.1A>G | missense | <0.1% | Rare variant in signal peptide |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in FCER1A.
Gain of Function (GOF)
Promoter SNPs (e.g., rs2251746) may increase FCER1A expression, enhancing IgE binding.
Dominant Negative (DN)
Not described for FCER1A.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Fc epsilon RI signaling pathway (KEGG: hsa04664)
• Allograft rejection (KEGG: hsa05330)
• Asthma (KEGG: hsa05310)
• Systemic lupus erythematosus (KEGG: hsa05322)
Protein Summary
The FCER1A protein (P12319) is a 257-amino-acid type I transmembrane glycoprotein with two immunoglobulin-like domains that bind the Fc region of IgE. It is the ligand-binding subunit of the high-affinity IgE receptor. The protein is essential for IgE-mediated mast cell and basophil activation, playing a central role in allergic diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FCER1A Knockout HEK293 Cell Line | EDJ-KQ1702 | Human | 2205 | Details Get a Quote |
| FCER1A Knockout HeLa Cell Line | EDJ-KQ53203 | Human | 2205 | Details Get a Quote |
| FCER1A Knockout A-549 Cell Line | EDJ-KQ61684 | Human | 2205 | Details Get a Quote |
| FCER1A Knockout HCT 116 Cell Line | EDJ-KQ70170 | Human | 2205 | Details Get a Quote |
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