MS4A2 - membrane spanning 4-domains A2 Gene
Also Known as APY; IGEL; IGER; ATOPY; FCERI; IGHER; FCER1B
Species: Homo sapiens
About MS4A2
This gene has 4 transcripts (splice variants), 358 orthologues, 16 paralogues and is associated with 1 phenotype. Biased expression in lung (RPKM 8.1), gall bladder (RPKM 5.4) and 13 other tissues.
Summary
The allergic response involves the binding of allergen to receptor-bound IgE followed by cell activation and the release of mediators responsible for the manifestations of allergy. The IgE-receptor, a tetramer composed of an alpha, beta, and 2 disulfide-linked gamma chains, is found on the surface of mast cells and basophils. This gene encodes the beta subunit of the high affinity IgE receptor which is a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member is localized to 11q12, among a cluster of membrane-spanning 4A gene family members. Alternative splicing results in multiple transcript variants encoding distinct proteins. Additional transcript variants have been described but require experimental validation. [provided by RefSeq, Mar 2012]
MS4A2 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_000139.5 | NP_000130.1 | high affinity immunoglobulin epsilon receptor subunit beta isoform 1 |
| NM_001256916.2 | NP_001243845.1 | high affinity immunoglobulin epsilon receptor subunit beta isoform 3 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32296183 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in immune response |
IMP
IMP: Inferred from mutant phenotype
|
7920628 | GOA |
MS4A2 Protein Structure
CD20: CD20-like family (61 - 203)
- 0
- 100
- 200
- 244 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
high affinity immunoglobulin epsilon receptor subunit beta |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Ige Responsiveness, Atopic |
|
|
| Allergic Asthma |
|
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| Childhood-Onset Asthma |
|
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| Allergic Rhinitis |
|
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| Dermatitis, Atopic |
|
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| Food Allergy |
|
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| Type 1 Diabetes Mellitus 4 |
|
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| Asthma |
|
|
| Fanconi Anemia, Complementation Group C |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | MS4A2 | RGD | RGD:2598 |
| Mus musculus | MS4A2 | MGD | MGI:95495 |
| Felis catus | MS4A2 | VGNC | VGNC:108366 |
| Bos taurus | MS4A2 | VGNC | VGNC:31685 |
| Macaca mulatta | MS4A2 | VGNC | VGNC:74929 |
| Canis familiaris | MS4A2 | VGNC | VGNC:43432 |
| Others | MS4A2 | NCBI |