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

Gene ID: 2206, updated on 7-Apr-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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Location:
11q12.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (60088259..60098467)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (60039540..60049747)
105.20220307 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. Interaction between antibiotic use and MS4A2 gene polymorphism on childhood eczema: a prospective birth cohort study. Hua L, et al. BMC Pediatr, 2021 Jul 14. PMID 34261469, Free PMC Article
  2. Role for High-Affinity IgE Receptor in Prognosis of Lung Adenocarcinoma Patients. Ly D, et al. Cancer Immunol Res, 2017 Sep. PMID 28775209
  3. A Nonsynonymous FCER1B SNP is Associated with Risk of Developing Allergic Rhinitis and with IgE Levels. Amo G, et al. Sci Rep, 2016 Jan 21. PMID 26792385, Free PMC Article
  4. High-affinity IgE receptor gene polymorphism and allergic rhinitis in a Polish population. Korzycka-Zaborowska B, et al. Otolaryngol Pol, 2014 Jul-Aug. PMID 24981302
  5. IgE FcɛR1β polymorphism and risk of developing chronic spontaneous urticaria: A study in an ethnic Kashmiri population. Rasool R, et al. Allergol Immunopathol (Madr), 2015 May-Jun. PMID 24953255

See all (112) 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)

Genotypes

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_2023_10

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

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