Human Gene MS4A2 (uc021qka.1) Description and Page Index
Description: Homo sapiens membrane-spanning 4-domains, subfamily A, member 2 (MS4A2), transcript variant 3, mRNA. RefSeq Summary (NM_001256916): 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]. Transcript (Including UTRs) Position: hg19 chr11:59,856,137-59,865,940 Size: 9,804 Total Exon Count: 6 Strand: + Coding Region Position: hg19 chr11:59,856,239-59,863,129 Size: 6,891 Coding Exon Count: 6
ID:FCERB_HUMAN DESCRIPTION: RecName: Full=High affinity immunoglobulin epsilon receptor subunit beta; Short=FcERI; AltName: Full=Fc epsilon receptor I beta-chain; AltName: Full=IgE Fc receptor subunit beta; AltName: Full=Membrane-spanning 4-domains subfamily A member 2; FUNCTION: High affinity receptor that binds to the Fc region of immunoglobulins epsilon. Aggregation of FCER1 by multivalent antigens is required for the full mast cell response, including the release of preformed mediators (such as histamine) by degranulation and de novo production of lipid mediators and cytokines. Also mediates the secretion of important lymphokines. Binding of allergen to receptor-bound IgE leads to cell activation and the release of mediators responsible for the manifestations of allergy. SUBUNIT: Tetramer of an alpha chain, a beta chain, and two disulfide linked gamma chains. Binds LILRB1. Interacts with FGR, FES/FPS and LYN (By similarity). SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Found on the surface of mast cells and basophils. PTM: Phosphorylated on tyrosine residues by LYN (By similarity). POLYMORPHISM: Variant Glu-237 has been found to be present in about 5.3% of a 1004 individuals population sample in Australia. It seems to be a risk factor for atopic dermatitis and asthma. SIMILARITY: Belongs to the MS4A family.
Genetic Association Studies of Complex Diseases and Disorders
asthma, aspirin-induced Kim, S. H. et al. 2006, A polymorphism of MS4A2 (-109T>C) encoding the beta-chain of the high-affinity immunoglobulin E receptor (FcepsilonR1beta) is associated with a susceptibility to aspirin-intolerant asthma, Clin Exp Allergy 2006 36(7) 877-83.
FcepsilonR1beta-109T > C polymorphism may increase expression of MS4A2 by mast cells, leading to enhanced release of proinflammatory mediators in the asthmatic airway, contributing to increased susceptibility to AIA.
Asthma| Angela J Rogers , et al. American journal of respiratory and critical care medicine 2009 179(12):1084-90, Assessing the reproducibility of asthma candidate gene associations, using genome-wide data., American journal of respiratory and critical care medicine 2009 179(12):1084-90.
We replicated asthma associations for a minority of candidate genes.
Hyperresponsiveness Trabetti E 1998, , Journal of medical genetics. 1998 Aug;35(8):680-1.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q01362
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.