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

Gene ID: 2206, updated on 5-Aug-2018

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; Vega:OTTHUMG00000167239
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 current GRCh38.p12 (GCF_000001405.38) 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 uncharacterized LOC105369319 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat'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_000139.4NP_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, OTTHUMP00000235529, ENST00000278888.7, OTTHUMT00000393844
    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.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 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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