MS4A2 Gene (Protein Coding)

Membrane Spanning 4-Domains A2

GC11P060088
GIFtS:
42
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 affin... See more...

Aliases for MS4A2 Gene

Aliases for MS4A2 Gene

  • Membrane Spanning 4-Domains A2 2 3 5
  • Fc Fragment Of IgE, High Affinity I, Receptor For; Beta Polypeptide 2 3
  • High Affinity Immunoglobulin Epsilon Receptor Subunit Beta 3 4
  • Membrane-Spanning 4-Domains Subfamily A Member 2 3 4
  • IgE Fc Receptor Subunit Beta 3 4
  • FCER1B 3 4
  • MS4A1 2 3
  • IGER 3 4
  • APY 3 4
  • High Affinity Immunoglobulin Epsilon Receptor Beta-Subunit (FcERI) (IgE Fc Receptor, Beta-Subunit) (Fc Epsilon Receptor I Beta-Chain) 3
  • Membrane-Spanning 4-Domains, Subfamily A, Member 2 (Fc Fragment Of IgE, High Affinity I, Receptor For; Beta Polypeptide) 2
  • Immunoglobulin E Receptor, High Affinity, Beta Polypeptide 3
  • Membrane-Spanning 4-Domains, Subfamily A, Member 2 2
  • High Affinity IgE Receptor Beta Subunit 3
  • Fc Epsilon Receptor I Beta-Chain 4
  • IgE Responsiveness (Atopic) 2
  • ATOPY 3
  • FCERI 3
  • IGHER 3
  • MS4A2 5
  • FcERI 4
  • IGEL 3

External Ids for MS4A2 Gene

Previous HGNC Symbols for MS4A2 Gene

  • FCER1B
  • IGER
  • APY

Previous GeneCards Identifiers for MS4A2 Gene

  • GC11P062251
  • GC11P061369
  • GC11P060107
  • GC11P059631
  • GC11P059612
  • GC11P059856
  • GC11P056203

Summaries for MS4A2 Gene

Entrez Gene Summary for MS4A2 Gene

  • 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]

GeneCards Summary for MS4A2 Gene

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 Immune response NFAT in immune response. Gene Ontology (GO) annotations related to this gene include protein kinase binding and SH2 domain binding. An important paralog of this gene is MS4A4A.

UniProtKB/Swiss-Prot Summary for MS4A2 Gene

  • 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.

Gene Wiki entry for MS4A2 Gene

Additional gene information for MS4A2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MS4A2 Gene

Genomics for MS4A2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MS4A2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MS4A2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MS4A2

Top Transcription factor binding sites by QIAGEN in the MS4A2 gene promoter:
  • AML1a

Genomic Locations for MS4A2 Gene

Latest Assembly
chr11:60,088,261-60,098,467
(GRCh38/hg38)
Size:
10,207 bases
Orientation:
Plus strand

Previous Assembly
chr11:59,856,137-59,865,940
(GRCh37/hg19 by Entrez Gene)
Size:
9,804 bases
Orientation:
Plus strand

chr11:59,855,734-59,863,444
(GRCh37/hg19 by Ensembl)
Size:
7,711 bases
Orientation:
Plus strand

Genomic View for MS4A2 Gene

Genes around MS4A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MS4A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MS4A2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MS4A2 Gene

Proteins for MS4A2 Gene

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  • Protein details for MS4A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01362-FCERB_HUMAN
    Recommended name:
    High affinity immunoglobulin epsilon receptor subunit beta
    Protein Accession:
    Q01362
    Secondary Accessions:
    • Q54A81

    Protein attributes for MS4A2 Gene

    Size:
    244 amino acids
    Molecular mass:
    26534 Da
    Quaternary structure:
    • 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).

neXtProt entry for MS4A2 Gene

Post-translational modifications for MS4A2 Gene

Other Protein References for MS4A2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MS4A2 Gene

Domains & Families for MS4A2 Gene

Gene Families for MS4A2 Gene

HGNC:
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for MS4A2 Gene

InterPro:
Blocks:
  • CD20/IgE Fc receptor beta subunit

Suggested Antigen Peptide Sequences for MS4A2 Gene

GenScript: Design optimal peptide antigens:
  • Membrane-spanning 4-domains subfamily A member 2 (FCERB_HUMAN)
  • FceRI protein (Q14298_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q01362

UniProtKB/Swiss-Prot:

FCERB_HUMAN :
  • Belongs to the MS4A family.
Family:
  • Belongs to the MS4A family.
genes like me logo Genes that share domains with MS4A2: view

Function for MS4A2 Gene

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  6. Cell Lines for research

Molecular function for MS4A2 Gene

UniProtKB/Swiss-Prot 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.
GENATLAS Biochemistry:
membrane-spanning 4-domains, subfamily A, member 2,cell differentiation antigen CD20 (gp35),37/35kDa,identified by monoclonal antibodies B1,1F5

Phenotypes From GWAS Catalog for MS4A2 Gene

Gene Ontology (GO) - Molecular Function for MS4A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
GO:0019863 IgE binding IEA --
genes like me logo Genes that share ontologies with MS4A2: view
genes like me logo Genes that share phenotypes with MS4A2: view

Human Phenotype Ontology for MS4A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MS4A2 Gene

MGI Knock Outs for MS4A2:

Animal Models for research

miRNA for MS4A2 Gene

miRTarBase miRNAs that target MS4A2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MS4A2

Clone products for research

  • Addgene plasmids for MS4A2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MS4A2 Gene

Localization for MS4A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MS4A2 Gene

Membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MS4A2 gene
Compartment Confidence
plasma membrane 5
extracellular 1
nucleus 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MS4A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA,NAS 1535625
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0032998 Fc-epsilon receptor I complex IEA --
genes like me logo Genes that share ontologies with MS4A2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MS4A2 Gene

Pathways & Interactions for MS4A2 Gene

genes like me logo Genes that share pathways with MS4A2: view

Pathways by source for MS4A2 Gene

1 BioSystems pathway for MS4A2 Gene
2 GeneGo (Thomson Reuters) pathways for MS4A2 Gene
  • Immune response Fc epsilon RI pathway
  • Immune response NFAT in immune response

Gene Ontology (GO) - Biological Process for MS4A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006954 inflammatory response IEA --
GO:0006955 immune response IMP 7920628
GO:0038095 Fc-epsilon receptor signaling pathway IEA,TAS --
genes like me logo Genes that share ontologies with MS4A2: view

No data available for SIGNOR curated interactions for MS4A2 Gene

Drugs & Compounds for MS4A2 Gene

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  1. Drug products for research

(2) Drugs for MS4A2 Gene - From: DrugBank and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Omalizumab Approved, Investigational Pharma Target, inhibitor, antibody 186
R112 Pharma 0

(1) Additional Compounds for MS4A2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MS4A2: view

Transcripts for MS4A2 Gene

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mRNA/cDNA for MS4A2 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MS4A2

Clone products for research

  • Addgene plasmids for MS4A2

Alternative Splicing Database (ASD) splice patterns (SP) for MS4A2 Gene

No ASD Table

Relevant External Links for MS4A2 Gene

GeneLoc Exon Structure for
MS4A2

Expression for MS4A2 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MS4A2 Gene

mRNA expression in normal human tissues for MS4A2 Gene
mRNA expression by GTEx for MS4A2 GenemRNA expression by BioGPS for MS4A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MS4A2 Gene

This gene is overexpressed in Lung (x5.0).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MS4A2

SOURCE GeneReport for Unigene cluster for MS4A2 Gene:

Hs.386748

mRNA Expression by UniProt/SwissProt for MS4A2 Gene:

Q01362-FCERB_HUMAN
Tissue specificity: Found on the surface of mast cells and basophils.

Evidence on tissue expression from TISSUES for MS4A2 Gene

  • Lung(4.4)
genes like me logo Genes that share expression patterns with MS4A2: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MS4A2 Gene

Orthologs for MS4A2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for MS4A2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MS4A2 29 30
  • 98.5 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Ms4a2 29 16 30
  • 76.05 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MS4A2 29 30
  • 75.49 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MS4A2 29 30
  • 73.08 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ms4a2 29
  • 71.99 (n)
Oppossum
(Monodelphis domestica)
 Mammalia MS4A2 30
  • 31 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 24 (a)
 OneToMany
Species where no ortholog for MS4A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for MS4A2 Gene

ENSEMBL:
Gene Tree for MS4A2 (if available)
TreeFam:
Gene Tree for MS4A2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MS4A2: view image
Alliance of Genome Resources:
Additional Orthologs for MS4A2

Paralogs for MS4A2 Gene

Paralogs for MS4A2 Gene

(1) SIMAP similar genes for MS4A2 Gene using alignment to 2 proteins:

  • FCERB_HUMAN
  • E9PLJ1_HUMAN
genes like me logo Genes that share paralogs with MS4A2: view

Variants for MS4A2 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Polymorphic Variants from UniProtKB/Swiss-Prot for MS4A2 Gene

FCERB_HUMAN-Q01362
Variant Glu-237 has been found to be present in about 5.3% of a 1004 individuals population sample in Australia (PubMed:8817330).

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MS4A2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs35033981 Benign: not provided 60,093,449(+) C/Tp.Thr143Met
NM_000139.5(MS4A2):c.428C>T (p.Thr143Met) 		MISSENSE
rs535630 Benign: not provided 60,094,059(+) C/Ap.Asn211Lys
NM_000139.5(MS4A2):c.633C>A (p.Asn211Lys) 		MISSENSE
rs569108 Risk Factor: Atopic asthma, susceptibility to 60,095,631(+) A/Gp.Glu237Gly
NM_000139.5(MS4A2):c.710A>G (p.Glu237Gly) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MS4A2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MS4A2 Gene

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

Variation tolerance for MS4A2 Gene

Residual Variation Intolerance Score: 84.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.54; 77.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MS4A2 Gene

Human Gene Mutation Database (HGMD)
MS4A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MS4A2
Leiden Open Variation Database (LOVD)
MS4A2

SNP Genotyping and Copy Number Assays for research

Disorders for MS4A2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for MS4A2 Gene - From: OMI, CVR, GTR, COP, and GCD

Disorder Aliases PubMed IDs
ige responsiveness, atopic
  • iger
allergic asthma
  • atopic asthma
asthma
  • asthma, susceptibility to
allergic rhinitis
  • alrh
chronic spontaneous urticaria
  • chronic idiopathic urticaria
- elite association - COSMIC cancer census association via MalaCards
Search MS4A2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MS4A2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MS4A2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MS4A2 Gene

Publications for MS4A2 Gene

  1. A new variant of the beta subunit of the high-affinity receptor for immunoglobulin E (Fc epsilon RI-beta E237G): associations with measures of atopy and bronchial hyper-responsiveness. (PMID: 8817330) Hill MR … Cookson WO (Human molecular genetics 1996) 3 4 40 72
  2. Association between atopic asthma and a coding variant of Fc epsilon RI beta in a Japanese population. (PMID: 8842731) Shirakawa T … Hopkin J (Human molecular genetics 1996) 3 4 40 72
  3. Promoter polymorphism in the MS4A2 gene and asthma in the Indian population. (PMID: 19218813) Sharma S … Ghosh B (International archives of allergy and immunology 2009) 3 22 40
  4. A multi-centre study of candidate genes for wheeze and allergy: the International Study of Asthma and Allergies in Childhood Phase 2. (PMID: 20085599) Genuneit J … ISAAC Phase 2 Study Group (Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology 2009) 3 22 40
  5. Association and functional relevance of E237G, a polymorphism of the high-affinity immunoglobulin E-receptor beta chain gene, to airway hyper-responsiveness. (PMID: 17430357) Kim YK … Kim YY (Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology 2007) 3 22 40

ExternalLinks

View latest publications for MS4A2 gene in Mastermind

Products for MS4A2 Gene

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Sources for MS4A2 Gene