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

    Gene ID: 2206, updated on 11-Sep-2019

    Summary

    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
    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; MS4A1; 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

    Genomic context

    See MS4A2 in Genome Data Viewer
    Location:
    11q12.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20190905 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (60088261..60098467)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (59855734..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 membrane spanning 4-domains A6A

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from BioSystems

    • Asthma, organism-specific biosystem (from KEGG)
      Asthma, organism-specific biosystemAsthma is a complex syndrome with many clinical phenotypes in both adults and children. Its major characteristics include a variable degree of airflow obstruction, bronchial hyperresponsiveness, and ...
    • Asthma, conserved biosystem (from KEGG)
      Asthma, conserved biosystemAsthma is a complex syndrome with many clinical phenotypes in both adults and children. Its major characteristics include a variable degree of airflow obstruction, bronchial hyperresponsiveness, and ...
    • Fc epsilon RI signaling pathway, organism-specific biosystem (from KEGG)
      Fc epsilon RI signaling pathway, organism-specific biosystemFc epsilon RI-mediated signaling pathways in mast cells are initiated by the interaction of antigen (Ag) with IgE bound to the extracellular domain of the alpha chain of Fc epsilon RI. The activation...
    • Fc epsilon RI signaling pathway, conserved biosystem (from KEGG)
      Fc epsilon RI signaling pathway, conserved biosystemFc epsilon RI-mediated signaling pathways in mast cells are initiated by the interaction of antigen (Ag) with IgE bound to the extracellular domain of the alpha chain of Fc epsilon RI. The activation...
    • Fc epsilon receptor (FCERI) signaling, organism-specific biosystem (from REACTOME)
      Fc epsilon receptor (FCERI) signaling, organism-specific biosystemMast cells (MC) are distributed in tissues throughout the human body and have long been recognized as key cells of type I hypersensitivity reactions. They also play important roles in inflammatory an...
    • Fc-epsilon receptor I signaling in mast cells, organism-specific biosystem (from Pathway Interaction Database)
      Fc-epsilon receptor I signaling in mast cells, organism-specific biosystem
      Fc-epsilon receptor I signaling in mast cells
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Phospholipase D signaling pathway, organism-specific biosystem (from KEGG)
      Phospholipase D signaling pathway, organism-specific biosystemPhospholipase D (PLD) is an essential enzyme responsible for the production of the lipid second messenger phosphatidic acid (PA), which is involved in fundamental cellular processes, including membra...
    • Phospholipase D signaling pathway, conserved biosystem (from KEGG)
      Phospholipase D signaling pathway, conserved biosystemPhospholipase D (PLD) is an essential enzyme responsible for the production of the lipid second messenger phosphatidic acid (PA), which is involved in fundamental cellular processes, including membra...
    • Sphingolipid signaling pathway, organism-specific biosystem (from KEGG)
      Sphingolipid signaling pathway, organism-specific biosystemSphingomyelin (SM) and its metabolic products are now known to have second messenger functions in a variety of cellular signaling pathways. Particularly, the sphingolipid metabolites, ceramide (Cer) ...
    • Sphingolipid signaling pathway, conserved biosystem (from KEGG)
      Sphingolipid signaling pathway, conserved biosystemSphingomyelin (SM) and its metabolic products are now known to have second messenger functions in a variety of cellular signaling pathways. Particularly, the sphingolipid metabolites, ceramide (Cer) ...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    IgE binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    Fc-epsilon receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Fc-epsilon receptor I complex IEA
    Inferred from Electronic Annotation
    more info
     
    external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    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)

    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_000139.5NP_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
      Related
      ENSP00000278888.3, ENST00000278888.8
      Conserved Domains (1) summary
      pfam04103
      Location:60203
      CD20; CD20-like family
    2. NM_001256916.1NP_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:63158
      CD20; CD20-like family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      60088261..60098467
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005273846.4XP_005273903.1  high affinity immunoglobulin epsilon receptor subunit beta isoform X1

      Conserved Domains (1) summary
      pfam04103
      Location:67210
      CD20; CD20-like family
    2. XM_017017362.1XP_016872851.1  high affinity immunoglobulin epsilon receptor subunit beta isoform X3

    3. XM_011544850.2XP_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
      Conserved Domains (1) summary
      pfam04103
      Location:60203
      CD20; CD20-like family

    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.
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