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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MS4A6E
membrane spanning 4-domains A6E
Chromosome 11 · 11q12.2
NCBI Gene: 245802Ensembl: ENSG00000166926.10HGNC: HGNC:14285UniProt: Q96DS6
9PubMed Papers
12Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcell surface receptor signaling pathwaytrans-Golgi networkplasma membraneAlzheimer diseasehypertrophic cardiomyopathydementiadrug allergy
✦AI Summary

MS4A6E (membrane spanning 4-domains A6E) is a member of the MS4A gene family clustered on chromosome 11, encoding a cell surface protein with structural similarity to CD20 and FcεRIβ 1. Unlike other MS4A family members, MS4A6E contains only two transmembrane domains rather than four and shows rare transcript expression that is not detected in hematopoietic cells or most nonlymphoid tissues 1. The protein is predicted to function as a component of oligomeric cell surface complexes involved in signal transduction, consistent with its classification in the cell surface receptor signaling pathway 1. MS4A6E has significant disease relevance, particularly in Alzheimer's disease (AD), where genetic variants in the MS4A4/MS4A6E locus have been identified as risk factors for late-onset AD through multiple genome-wide association studies 23. The gene shows differential expression in adipose tissue across PCOS mouse models and in women with PCOS, suggesting a conserved metabolic function 4. In AD research, MS4A6E exhibits sex-specific associations with cognitive decline and shows protein-protein interactions with other AD-associated genes including PICALM, BIN1, and CD2AP 56. The clinical significance lies in its potential as a therapeutic target for neurodegenerative diseases.

Sources cited
1
MS4A6E is part of the MS4A gene family on chromosome 11q12, has two transmembrane domains, and shows rare tissue expression
PMID: 11486273
2
Genetic variants at MS4A4/MS4A6E locus are associated with late-onset Alzheimer's disease risk
PMID: 21460841
3
MS4A6E is among genes identified as contributing to late-onset Alzheimer's disease risk
PMID: 24829845
4
MS4A6E shows differential expression in adipose tissue in PCOS models and women with PCOS
PMID: 36653487
5
MS4A6E shows sex-specific associations with cognitive decline in AD research
PMID: 27005436
6
MS4A6E shows protein-protein interactions with other AD-associated genes including PICALM, BIN1, and CD2AP
PMID: 39655660
Disease Associationsⓘ12
Alzheimer diseaseOpen Targets
0.38Weak
hypertrophic cardiomyopathyOpen Targets
0.28Weak
dementiaOpen Targets
0.03Suggestive
drug allergyOpen Targets
0.02Suggestive
polycystic ovary syndromeOpen Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
COVID-19Open Targets
0.01Suggestive
late-onset Alzheimers diseaseOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CD101Shared pathway100%ADGRL1Shared pathway100%CLEC1AShared pathway100%MS4A7Shared pathway100%ADGRL4Shared pathway100%MS4A6AShared pathway100%
Tissue Expression6 tissues
Lung
100%
Liver
22%
Brain
11%
Heart
0%
Bone Marrow
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
MS4A6ECD101ADGRL1CLEC1AMS4A7ADGRL4MS4A6A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96DS6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.05LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.58 [0.34–1.05]
RankingsWhere MS4A6E stands among ~20K protein-coding genes
  • #17,382of 20,598
    Most Researched9
  • #10,561of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedMS4A6E
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Late-Onset Alzheimer's Disease Genes and the Potentially Implicated Pathways.
PMID: 24829845
Curr Genet Med Rep · 2014
1.00
2
Structural organization of the human MS4A gene cluster on Chromosome 11q12.
PMID: 11486273
Immunogenetics · 2001
0.90
3
Transcriptomic survey of key reproductive and metabolic tissues in mouse models of polycystic ovary syndrome.
PMID: 36653487
Commun Biol · 2023
0.80
4
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
PMID: 21460841
Nat Genet · 2011
0.70
5
Genome-wide association study of Alzheimer's disease.
PMID: 22832961
Transl Psychiatry · 2012
0.60