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

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; 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: mouse all
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Genomic context

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
MS4A2 was differentially expressed between Fibromyalgia patients and healthy controls.
Title: Genome-wide expression profiling in the peripheral blood of patients with fibromyalgia.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MS4A2_939 (e-PCR)
- UniSTS:277506

SGC35231 (e-PCR)
- UniSTS:18459

D8S2279 (e-PCR)
- UniSTS:473907

D1S1423 (e-PCR)
- UniSTS:149619

GDB:187457 (e-PCR)
- UniSTS:155554

IGERBE6 (e-PCR)
- UniSTS:4524

GDB:196337 (e-PCR)
- UniSTS:155830

NoName (e-PCR)
- UniSTS:482045

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

NG_016014.1 RefSeqGene

Range

5001..14804

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

60088259..60098467

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

60039540..60049747

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054368036.1 → XP_054224011.1 high affinity immunoglobulin epsilon receptor subunit beta isoform X1
XM_054368038.1 → XP_054224013.1 high affinity immunoglobulin epsilon receptor subunit beta isoform X3
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

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.