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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MS4A8
membrane spanning 4-domains A8
Chromosome 11 Β· 11q12.2
NCBI Gene: 83661Ensembl: ENSG00000166959.9HGNC: HGNC:13380UniProt: Q9BY19
9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
plasma membranecell surface receptor signaling pathwaymembraneintestinal disaccharide deficiency and disaccharide malabsorptioninborn carbohydrate metabolic disorderheart diseasemultiple sclerosis
✦AI Summary

MS4A8 (membrane spanning 4-domains A8) is a four-transmembrane domain protein localized to the plasma membrane that may function as a component of multimeric receptor complexes involved in cell surface signaling. The protein is implicated in diverse physiological and pathological processes. During bovine maternal recognition of pregnancy, MS4A8 is among the most highly upregulated genes in pregnant endometrium, suggesting involvement in endometrial remodeling and immune response pathways critical for pregnancy establishment 1. In cancer biology, MS4A8 protein expression is significantly elevated in gastric cancer cells and is downregulated following treatment with Sophora flavescens extract or matrine combined with chemotherapy, correlating with reduced proliferation and increased apoptosis 2. In lung carcinomas, MS4A8 is an ASCL1-related gene preferentially expressed in classical small cell lung cancer and ASCL1-transfected cells, where it is proposed to contribute to cell growth and morphology regulation 3. These findings suggest MS4A8 functions in tissue-specific signaling contexts, from reproductive physiology to malignant transformation, though its precise molecular mechanism remains to be elucidated.

Sources cited
1
MS4A8 is among the most highly upregulated genes in pregnant bovine endometrium during maternal recognition of pregnancy
PMID: 35799127
2
MS4A8 protein expression is decreased in gastric cancer cells treated with Sophora flavescens extract or matrine combined with 5-FU, correlating with reduced proliferation and increased apoptosis
PMID: 36438804
3
MS4A8 is an ASCL1-related gene preferentially expressed in classical small cell lung cancer and associated with cell growth and morphology
PMID: 32170367
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
intestinal disaccharide deficiency and disaccharide malabsorptionOpen Targets
0.26Weak
inborn carbohydrate metabolic disorderOpen Targets
0.26Weak
heart diseaseOpen Targets
0.18Weak
multiple sclerosisOpen Targets
0.13Weak
alcohol drinkingOpen Targets
0.09Suggestive
Barrett's esophagusOpen Targets
0.07Suggestive
neutropenia, severe congenital, 2, autosomal dominantOpen Targets
0.06Suggestive
X-linked severe congenital neutropeniaOpen Targets
0.05Suggestive
Neutropenia - monocytopenia - deafnessOpen Targets
0.04Suggestive
neutropenia-monocytopenia-deafness syndromeOpen Targets
0.04Suggestive
esophageal adenocarcinomaOpen Targets
0.04Suggestive
neutropenia, severe congenital, 10, autosomal recessiveOpen Targets
0.04Suggestive
neutropenia, severe congenital, 1, autosomal dominantOpen Targets
0.04Suggestive
paroxysmal tachycardiaOpen Targets
0.04Suggestive
cardiomyopathyOpen Targets
0.03Suggestive
prostate cancerOpen Targets
0.03Suggestive
lung carcinomaOpen Targets
0.03Suggestive
Crohn's diseaseOpen Targets
0.03Suggestive
lung adenocarcinomaOpen Targets
0.02Suggestive
colon carcinomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
MS4A18Shared pathway100%MS4A13Shared pathway100%ADGRD2Shared pathway100%MS4A10Shared pathway100%MS4A15Shared pathway100%ADGRA3Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Lung
4%
Ovary
0%
Bone Marrow
0%
Liver
0%
Heart
0%
Gene Interaction Network
Click a node to explore
MS4A8MS4A18MS4A13ADGRD2MS4A10MS4A15ADGRA3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9BY19
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.45LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.02 [0.73–1.45]
RankingsWhere MS4A8 stands among ~20K protein-coding genes
  • #17,383of 20,598
    Most Researched9
  • #14,828of 17,882
    Most Constrained (LOEUF)1.45
Genes detectedMS4A8
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
RNA-Sequencing based analysis of bovine endometrium during the maternal recognition of pregnancy.
PMID: 35799127
BMC Genomics Β· 2022
1.00
2
Effects of
PMID: 36438804
Front Pharmacol Β· 2022
0.67
3
Significance of achaete-scute complex homologue 1 (ASCL1) in pulmonary neuroendocrine carcinomas; RNA sequence analyses using small cell lung cancer cells and Ascl1-induced pulmonary neuroendocrine carcinoma cells.
PMID: 32170367
Histochem Cell Biol Β· 2020
0.33