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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MS4A3
membrane spanning 4-domains A3
Chromosome 11 · 11q12.1
NCBI Gene: 932Ensembl: ENSG00000149516.15HGNC: HGNC:7317UniProt: Q96HJ5
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingplasma membranespecific granule membraneperinuclear region of cytoplasmresponse to statinbenign prostatic hyperplasiaAbruptio Placentaeosteosarcoma
✦AI Summary

MS4A3 is a transmembrane protein that functions as a hematopoietic regulator with distinct roles depending on cellular context. In myeloid differentiation, MS4A3 promotes granulocyte/macrophage lineage commitment and serves as a reliable marker for early myeloid progenitors 1. MS4A3 expression increases progressively during myeloid differentiation while remaining absent in lymphoid and megakaryocytic-erythrocytic lineages 1. Mechanistically, MS4A3 enhances common β-chain cytokine receptor endocytosis upon GM-CSF/IL-3 stimulation, amplifying downstream signaling and promoting cellular differentiation 2. In chr11 myeloid leukemia, leukemic stem/progenitor cells suppress MS4A3 expression through aberrant methylation and transcriptional regulation, enabling them to evade cytokine-induced differentiation and maintain TKI resistance 2. MS4A3 also participates in the MS4A3-HSP27 pathway, regulating erythroid differentiation through HSP27 phosphorylation 3. Beyond hematopoiesis, MS4A3 serves as a fate-mapping marker for granulocyte-monocyte progenitors 4 and tracks peripherally-derived macrophages in brain injury models 5. MS4A3 expression is downregulated during macrophage differentiation 6, suggesting context-dependent regulation. These findings position MS4A3 as a critical regulator of hematopoietic cell fate decisions with therapeutic implications for myeloid malignancies.

Sources cited
1
MS4A3 marks early myeloid-committed progenitors and increases with progressive myeloid differentiation while absent in lymphoid and megakaryocytic-erythrocytic lineages
PMID: 29274779
2
MS4A3 promotes differentiation by enhancing common β-chain cytokine receptor endocytosis; low MS4A3 expression characterizes CML LSPCs and enables TKI resistance
PMID: 34780648
3
MS4A3 participates in the MS4A3-HSP27 pathway regulating erythroid differentiation through HSP27 phosphorylation
PMID: 34581912
4
Ms4a3-Cre is used as a fate-mapping model for granulocyte-monocyte progenitors in hematopoietic development
PMID: 40419842
5
Ms4a3-cre enables fate-mapping of monocyte-derived macrophages in brain injury models
PMID: 41057304
6
MS4A3 is downregulated during PMA-induced macrophage differentiation from THP-1 monocytes
PMID: 37459313
7
MS4A3 (HTm4) is involved in cell cycle control via interaction with CDK2 and is expressed in hematopoietic cells
PMID: 19818099
Disease Associationsⓘ20
response to statinOpen Targets
0.26Weak
benign prostatic hyperplasiaOpen Targets
0.06Suggestive
Abruptio PlacentaeOpen Targets
0.06Suggestive
osteosarcomaOpen Targets
0.06Suggestive
Testicular regression syndromeOpen Targets
0.05Suggestive
46,XX ovotesticular disorder of sex developmentOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
megaloblastic anemiaOpen Targets
0.04Suggestive
skin diseaseOpen Targets
0.02Suggestive
chronic myelogenous leukemiaOpen Targets
0.02Suggestive
heart failureOpen Targets
0.02Suggestive
hypertrophic cardiomyopathyOpen Targets
0.02Suggestive
cardiomyopathyOpen Targets
0.02Suggestive
psoriatic arthritisOpen Targets
0.02Suggestive
acute myeloid leukemiaOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
gestational diabetesOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.01Suggestive
immunoglobulin G4-related sclerosing diseaseOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ELANEProtein interaction100%MPOProtein interaction100%PRTN3Protein interaction100%MS4A1Protein interaction96%DEFA4Protein interaction93%RNASE3Protein interaction90%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
0%
Liver
0%
Brain
0%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
MS4A3ELANEMPOPRTN3MS4A1DEFA4RNASE3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q96HJ5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.15LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.72 [0.47–1.15]
RankingsWhere MS4A3 stands among ~20K protein-coding genes
  • #13,958of 20,598
    Most Researched21
  • #11,990of 17,882
    Most Constrained (LOEUF)1.15
Genes detectedMS4A3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Optimization of differentiation and transcriptomic profile of THP-1 cells into macrophage by PMA.
PMID: 37459313
PLoS One · 2023
1.00
2
Prenatally derived macrophages support choroidal health and decline in age-related macular degeneration.
PMID: 40261298
J Exp Med · 2025
0.90
3
Embryonic mast cells arise from the Cpa3-expressing precursors but not granulocyte-monocyte progenitors.
PMID: 40419842
Sci China Life Sci · 2025
0.80
4
MS4A3-HSP27 target pathway reveals potential for haematopoietic disorder treatment in alimentary toxic aleukia.
PMID: 34581912
Cell Biol Toxicol · 2023
0.70
5
Fate mapping of peripherally-derived macrophages after traumatic brain injury in mice reveals a long-lasting population with a distinct transcriptomic signature.
PMID: 41057304
Nat Commun · 2025
0.60