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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 (Membrane Spanning 4-Domains A2) is a Protein Coding gene. Diseases associated with MS4A2 include Ige Responsiveness, Atopic and Allergic Asthma. Among its related pathways are Immune response Fc epsilon RI pathway and Sphingolipid signaling pathway. Gene Ontology (GO) annotations related to this gene include protein kinase binding and SH2 domain binding. An important paralog of this gene is MS4A4A.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0019863 | IgE binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IEA,NAS | 1535625 |
GO:0009897 | external side of plasma membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Immune response Fc epsilon RI pathway |
Immune response Fc epsilon RI pathway
.44
|
|
2 | Innate Immune System |
.61
|
|
3 | Allograft rejection |
.44
|
|
4 | Phospholipase D signaling pathway | ||
5 | Sphingolipid signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006954 | inflammatory response | IEA | -- |
GO:0006955 | immune response | IMP | 7920628 |
GO:0007165 | signal transduction | IEA | -- |
GO:0007166 | cell surface receptor signaling pathway | IEA | -- |
GO:0038095 | Fc-epsilon receptor signaling pathway | IEA,TAS | -- |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MS4A2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ms4a2 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MS4A2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MS4A2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ms4a2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | MS4A2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
768452 | Benign: not provided | 60,093,449(+) | C/T | MISSENSE_VARIANT | |
790092 | Benign: not provided | 60,094,059(+) | C/A | MISSENSE_VARIANT | |
rs569108 | Risk Factor: Atopic asthma, susceptibility to. - | 60,095,631(+) | A/Gp.Glu237Gly | MISSENSE_VARIANT | |
rs35033981 | - | p.Thr143Met | |||
rs535630 | - | p.Asn211Lys |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv201e214 | CNV | loss | 21293372 |
esv3626549 | CNV | loss | 21293372 |
nsv468579 | CNV | gain | 19166990 |
nsv555150 | CNV | gain | 21841781 |
nsv832173 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ige responsiveness, atopic |
|
|
allergic asthma |
|
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asthma |
|
|
allergic urticaria |
|
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allergic rhinitis |
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