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    MS4A2 membrane spanning 4-domains A2 [ Homo sapiens (human) ]

    Gene ID: 2206, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MS4A2provided by HGNC
    Official Full Name
    membrane spanning 4-domains A2provided by HGNC
    Primary source
    HGNC:HGNC:7316
    See related
    Ensembl:ENSG00000149534 MIM:147138; AllianceGenome:HGNC:7316
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    APY; IGEL; IGER; ATOPY; FCERI; IGHER; FCER1B
    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]
    Expression
    Biased expression in lung (RPKM 8.1), gall bladder (RPKM 5.4) and 13 other tissues See more
    Orthologs
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    Genomic context

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    See MS4A2 in Genome Data Viewer
    Location:
    11q12.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (60088259..60098467)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (60039540..60049747)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (59856137..59865940)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene membrane spanning 4-domains A3 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta pseudogene 9 Neighboring gene long intergenic non-protein coding RNA 2705 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:59935886-59937085 Neighboring gene membrane spanning 4-domains A6A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. FcepsilonRI signaling observed from the inside of the mast cell membrane. Wilson BS, et al. Mol Immunol, 2002 Sep. PMID 12217393
    2. Association between atopic asthma and a coding variant of Fc epsilon RI beta in a Japanese population. Shirakawa T, et al. Hum Mol Genet, 1996 Aug. PMID 8842731
    3. Association between atopic asthma and a coding variant of Fc epsilon RI beta in a Japanese population. Shirakawa T, et al. Hum Mol Genet, 1996 Dec. PMID 8968765
    4. Expression and functions of the high-affinity IgE receptor on human platelets and megakaryocyte precursors. Joseph M, et al. Eur J Immunol, 1997 Sep. PMID 9341761
    5. Expression of humanized Fab fragments that recognize the IgE-binding domain of human Fc(epsilon)RIalpha in COS and CHO cells. Takai T, et al. J Biochem, 2001 Jan. PMID 11134951

    See all (114) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Evaluation value and mechanism of ADRB2 and FCER1B gene polymorphisms in preterm infants with congenital respiratory diseases.
      Title: Evaluation value and mechanism of ADRB2 and FCER1B gene polymorphisms in preterm infants with congenital respiratory diseases.
    2. Identification of redundancy between human FcepsilonRIbeta and MS4A6A proteins points toward additional complex mechanisms for FcepsilonRI trafficking and signaling.
      Title: Identification of redundancy between human FcεRIβ and MS4A6A proteins points toward additional complex mechanisms for FcεRI trafficking and signaling.
    3. Interaction between antibiotic use and MS4A2 gene polymorphism on childhood eczema: a prospective birth cohort study.
      Title: Interaction between antibiotic use and MS4A2 gene polymorphism on childhood eczema: a prospective birth cohort study.
    4. Using immunohistochemistry, we validated that MS4A2, the beta subunit of the IgE receptor expressed on mast cells, is a favorable prognostic indicator and show that MS4A2 gene expression is an independent prognostic marker for early-stage lung cancer patient survival.
      Title: Role for High-Affinity IgE Receptor in Prognosis of Lung Adenocarcinoma Patients.
    5. in patients with allergic rhinitis without asthma, the FCER1B rs569108 and rs512555 polymorphisms are associated with increased risk of developing allergic rhinitis and with lower IgE levels.
      Title: A Nonsynonymous FCER1B SNP is Associated with Risk of Developing Allergic Rhinitis and with IgE Levels.
    6. study found a difference in the frequencies of genotypes of FcvarepsilonRIbeta subunit int 2 in allergic rhinitis patients and controls. The FcvarepsilonRIbeta subunit int 2 gene polymorphism was found to be associated with allergic rhinitis in the Polish cohort
      Title: High-affinity IgE receptor gene polymorphism and allergic rhinitis in a Polish population.
    7. MS4A2 was differentially expressed between Fibromyalgia patients and healthy controls.
      Title: Genome-wide expression profiling in the peripheral blood of patients with fibromyalgia.
    8. no association between gene polymorphism and chronic spontaneous urticaria in Kashmiri population
      Title: IgE FcɛR1β polymorphism and risk of developing chronic spontaneous urticaria: A study in an ethnic Kashmiri population.
    9. FcepsilonRIbeta -109C/T and IFN-gamma 874T/A polymorphisms may be influencing factors for asthma in the Asian population
      Title: Association between FcεRIβ and IFN-γ Polymorphisms and Asthma in Asian Population: a Meta-Analysis.
    10. The results explain how initial membrane interactions of clustered IgE-Fcepsilon RI complexes lead to downstream cellular responses.
      Title: Nanodomains in early and later phases of FcɛRI signalling.
    Submit: New GeneRIF Correction See all GeneRIFs (42)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables IgE binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell surface receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in immune response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Fc-epsilon receptor I complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    high affinity immunoglobulin epsilon receptor subunit beta
    Names
    Fc fragment of IgE, high affinity I, receptor for; beta polypeptide
    High affinity immunoglobulin epsilon receptor beta-subunit (FcERI) (IgE Fc receptor, beta-subunit) (Fc epsilon receptor I beta-chain)
    high affinity IgE receptor beta subunit
    igE Fc receptor subunit beta
    immunoglobulin E receptor, high affinity, beta polypeptide
    membrane-spanning 4-domains subfamily A member 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016014.1 RefSeqGene

      Range
      5001..14804
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000139.5 → NP_000130.1  high affinity immunoglobulin epsilon receptor subunit beta isoform 1

      See identical proteins and their annotated locations for NP_000130.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1) that traffics to the cytoplasmic membrane.
      Source sequence(s)
      AP001181, D10583, DA972757, GD138492
      Consensus CDS
      CCDS7980.1
      UniProtKB/Swiss-Prot
      Q01362, Q54A81
      Related
      ENSP00000278888.3, ENST00000278888.8
      Conserved Domains (1) summary
      pfam04103
      Location:60 → 203
      CD20; CD20-like family

    2. NM_001256916.2 → NP_001243845.1  high affinity immunoglobulin epsilon receptor subunit beta isoform 3

      See identical proteins and their annotated locations for NP_001243845.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the coding region, compared to variant 1, which results in a shorter isoform (3), compared to isoform 1, that traffics to the nuclear membrane.
      Source sequence(s)
      AP001181, DA972757, GD138492, JF411082
      Consensus CDS
      CCDS73292.1
      UniProtKB/TrEMBL
      A0A0B4J2E9
      Related
      ENSP00000482594.1, ENST00000617306.1
      Conserved Domains (1) summary
      pfam04103
      Location:63 → 158
      CD20; CD20-like family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      60088259..60098467
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005273846.5 → XP_005273903.1  high affinity immunoglobulin epsilon receptor subunit beta isoform X1

      Conserved Domains (1) summary
      pfam04103
      Location:67 → 210
      CD20; CD20-like family

    2. XM_011544850.3 → XP_011543152.1  high affinity immunoglobulin epsilon receptor subunit beta isoform X2

      See identical proteins and their annotated locations for XP_011543152.1

      UniProtKB/Swiss-Prot
      Q01362, Q54A81
      Conserved Domains (1) summary
      pfam04103
      Location:60 → 203
      CD20; CD20-like family

    3. XM_017017362.2 → XP_016872851.1  high affinity immunoglobulin epsilon receptor subunit beta isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      60039540..60049747
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368036.1 → XP_054224011.1  high affinity immunoglobulin epsilon receptor subunit beta isoform X1

    2. XM_054368038.1 → XP_054224013.1  high affinity immunoglobulin epsilon receptor subunit beta isoform X3

    3. XM_054368037.1 → XP_054224012.1  high affinity immunoglobulin epsilon receptor subunit beta isoform X2

      UniProtKB/Swiss-Prot
      Q01362, Q54A81

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001142303.1: Suppressed sequence

      Description
      NM_001142303.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q01362.1 GenPept UniProtKB/Swiss-Prot:Q01362

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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