HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MS4A2
membrane spanning 4-domains A2
Chromosome 11 · 11q12.1
NCBI Gene: 2206Ensembl: ENSG00000149534.9HGNC: HGNC:7316UniProt: A0A0B4J2E9
115PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingimmune responseFc-epsilon receptor I complexcell surface receptor signaling pathwaymegaloblastic anemialung adenocarcinomaneoplasmcancer
✦AI Summary

MS4A2 encodes the β-subunit of the high-affinity IgE receptor (FcεRI), a critical component in allergic responses and mast cell activation 1. The protein functions as part of a multi-subunit receptor complex that binds IgE with high affinity, triggering mast cell degranulation and release of inflammatory mediators when cross-linked by allergens 2. MS4A2 expression is regulated by transcription factors including GATA2, which directly transactivates the MS4A2 promoter 1. Genetic polymorphisms in MS4A2, particularly the E237G variant (rs569108), are associated with increased risk of atopic asthma and eczema development, with the GG genotype showing significant association with childhood eczema 34. The -109T/C promoter polymorphism demonstrates ethnic-specific associations with asthma risk in Asian populations and correlates with altered FcεRIβ transcript levels 5. Beyond allergic diseases, MS4A2 shows paradoxical roles in cancer, with elevated expression in lung adenocarcinoma associated with improved survival outcomes through modulation of tumor-associated mast cells and immune microenvironment 6. In chr11 rhinosinusitis, elevated MS4A2 expression correlates with poor postoperative prognosis, particularly in refractory cases with increased mast cell-IgE interactions 2.

Sources cited
1
MS4A2 encodes FcεRIβ subunit and GATA2 directly transactivates MS4A2 promoter
PMID: 24639354
2
MS4A2 functions in IgE receptor complex triggering mast cell degranulation and is elevated in refractory chronic rhinosinusitis
PMID: 39828458
3
MS4A2 rs569108 GG genotype associated with increased childhood eczema risk
PMID: 34261469
4
MS4A2 E237G variant associated with atopic asthma risk
PMID: 24495860
5
MS4A2 -109T/C promoter polymorphism shows ethnic-specific asthma associations and correlates with altered transcript levels
PMID: 19218813
6
Elevated MS4A2 expression in lung adenocarcinoma associated with improved survival through tumor-associated mast cell modulation
PMID: 40607924
Disease Associationsⓘ20
megaloblastic anemiaOpen Targets
0.20Weak
lung adenocarcinomaOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
cardiomyopathyOpen Targets
0.07Suggestive
Bartsocas-Papas syndrome 1Open Targets
0.07Suggestive
asthmaOpen Targets
0.06Suggestive
neutrophil immunodeficiency syndromeOpen Targets
0.06Suggestive
response to statinOpen Targets
0.06Suggestive
immunodeficiency 86Open Targets
0.05Suggestive
Recurrent infection due to specific granule deficiencyOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.05Suggestive
Abruptio PlacentaeOpen Targets
0.04Suggestive
viral diseaseOpen Targets
0.04Suggestive
Alzheimer diseaseOpen Targets
0.04Suggestive
gastric cancerOpen Targets
0.04Suggestive
osteoarthritisOpen Targets
0.03Suggestive
infectionOpen Targets
0.03Suggestive
immunodeficiency 81Open Targets
0.03Suggestive
allergic rhinitisOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
C17orf99Shared pathway100%FCRL6Shared pathway100%FCRLAShared pathway100%FCRL4Shared pathway100%IGSF6Shared pathway100%FCER1AProtein interaction100%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
57%
Heart
20%
Liver
8%
Ovary
2%
Brain
2%
Gene Interaction Network
Click a node to explore
MS4A2C17orf99FCRL6FCRLAFCRL4IGSF6FCER1A
PROTEIN STRUCTURE
Preparing viewer…
PDB8YWA · 3.14 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.18LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.81 [0.57–1.18]
RankingsWhere MS4A2 stands among ~20K protein-coding genes
  • #4,124of 20,598
    Most Researched115 · top quartile
  • #12,355of 17,882
    Most Constrained (LOEUF)1.18
Genes detectedMS4A2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Pan-cancer multi-omics profiling of MS4A2 unveils its functional landscape in lung adenocarcinoma.
PMID: 40607924
Int J Surg · 2025
1.00
2
Interaction between antibiotic use and MS4A2 gene polymorphism on childhood eczema: a prospective birth cohort study.
PMID: 34261469
BMC Pediatr · 2021
0.90
3
Association of the MS4A2 gene promoter C-109T or the 7th exon E237G polymorphisms with asthma risk: a meta-analysis.
PMID: 24495860
Clin Biochem · 2014
0.80
4
Promoter polymorphism in the MS4A2 gene and asthma in the Indian population.
PMID: 19218813
Int Arch Allergy Immunol · 2009
0.70
5
Critical Roles for PU.1, GATA1, and GATA2 in the expression of human FcεRI on mast cells: PU.1 and GATA1 transactivate FCER1A, and GATA2 transactivates FCER1A and MS4A2.
PMID: 24639354
J Immunol · 2014
0.60