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GeneE
25 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.
MSN
moesin
Chromosome X Β· Xq12
NCBI Gene: 4478Ensembl: ENSG00000147065.19HGNC: HGNC:7373UniProt: P26038
329PubMed Papers
21Diseases
0Drugs
18Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
focal adhesiondouble-stranded RNA bindingGO:0005615nucleuscombined immunodeficiency due to moesin deficiencycancercombined immunodeficiencyanaplastic large cell lymphoma
✦AI Summary

MSN (moesin) is a member of the ezrin-radixin-moesin (ERM) family that functions as a critical linker between the actin cytoskeleton and plasma membrane. The protein oscillates between resting and activated states, with C-terminal threonine phosphorylation triggering activation and subsequent F-actin interaction, leading to cytoskeletal rearrangements that regulate cell shape, membrane transport, and signal transduction 1. MSN plays particularly important roles in immune system function, regulating T and B-cell homeostasis, self-tolerance, and lymphocyte egress from lymphoid organs 23. Additionally, it participates in immunological synapse formation and modulates phagolysosomal biogenesis in macrophages 4. MSN deficiency causes severe combined immunodeficiency (Immunodeficiency 50), characterized by recurrent infections, lymphopenia, and autoimmune manifestations. A novel pathogenic mutation (c.68 A > G, p.N23S) was recently identified in a patient presenting with EBV infection, dermatomyositis-like symptoms, and eventual NK/T-cell lymphoma development 5. This mutation resulted in attenuated MSN protein expression, impaired T-cell proliferation and migration, and elevated autoantibody production, demonstrating MSN's essential role in immune cell function and disease prevention 5.

Sources cited
1
MSN oscillates between resting and activated states, with C-terminal threonine phosphorylation triggering F-actin interaction and cytoskeletal rearrangements
PMID: 10212266
2
MSN regulates T and B-cell homeostasis and lymphocyte egress from lymphoid organs
PMID: 9298994
3
MSN is important for immune cell self-tolerance mechanisms
PMID: 9616160
4
MSN participates in immunological synapse formation
PMID: 27405666
5
Novel MSN mutation (c.68 A > G, p.N23S) causes severe immunodeficiency with EBV infection, dermatomyositis-like symptoms, attenuated protein expression, impaired T-cell function, and elevated autoantibodies
PMID: 38922539
Disease Associationsβ“˜21
combined immunodeficiency due to moesin deficiencyOpen Targets
0.72Strong
cancerOpen Targets
0.47Moderate
combined immunodeficiencyOpen Targets
0.46Moderate
anaplastic large cell lymphomaOpen Targets
0.28Weak
neurodegenerative diseaseOpen Targets
0.28Weak
clear cell renal carcinomaOpen Targets
0.21Weak
oral squamous cell carcinomaOpen Targets
0.21Weak
gliomaOpen Targets
0.21Weak
neoplasmOpen Targets
0.21Weak
lung adenocarcinomaOpen Targets
0.20Weak
acute lymphoblastic leukemiaOpen Targets
0.20Weak
acute myeloid leukemiaOpen Targets
0.20Weak
hepatocellular carcinomaOpen Targets
0.19Weak
papillary thyroid carcinomaOpen Targets
0.19Weak
genetic disorderOpen Targets
0.19Weak
head and neck squamous cell carcinomaOpen Targets
0.19Weak
gastric adenocarcinomaOpen Targets
0.19Weak
non-small cell lung carcinomaOpen Targets
0.19Weak
cervical squamous cell carcinomaOpen Targets
0.19Weak
breast carcinomaOpen Targets
0.19Weak
Immunodeficiency 50UniProt
Pathogenic Variants18
NM_002444.3(MSN):c.511C>T (p.Arg171Trp)Pathogenic
Combined immunodeficiency due to moesin deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 171
NM_002444.3(MSN):c.1279C>T (p.Arg427Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 427
NM_002444.3(MSN):c.1348C>T (p.Gln450Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 450
NM_002444.3(MSN):c.1657C>T (p.Arg553Ter)Likely pathogenic
Combined immunodeficiency due to moesin deficiency|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 553
NM_002444.3(MSN):c.13-1G>ALikely pathogenic
not provided|Ovarian serous cystadenocarcinoma
β˜…β˜†β˜†β˜†2025
NM_002444.3(MSN):c.504G>A (p.Trp168Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 168
NM_002444.3(MSN):c.1471dup (p.Ser491fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 491
NM_002444.3(MSN):c.586C>T (p.Gln196Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 196
NM_002444.3(MSN):c.1303C>T (p.Arg435Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 435
NM_002444.3(MSN):c.1174_1183dup (p.Glu395fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 395
NM_002444.3(MSN):c.1251+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_002444.3(MSN):c.49G>T (p.Glu17Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 17
NM_002444.3(MSN):c.1114del (p.Ala372fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 372
NM_002444.3(MSN):c.585_586dup (p.Gln196fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 196
NM_002444.3(MSN):c.1638_1648del (p.Glu547fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 547
NM_002444.3(MSN):c.1601A>C (p.Asp534Ala)Likely pathogenic
Combined immunodeficiency due to moesin deficiency
β˜…β˜†β˜†β˜†2019β†’ Residue 534
NM_002444.3(MSN):c.1580C>A (p.Ser527Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 527
NM_002444.3(MSN):c.1056del (p.Lys352fs)Pathogenic
Combined immunodeficiency due to moesin deficiency
β˜†β˜†β˜†β˜†2021β†’ Residue 352
View on ClinVar β†—
Related Genes
ARHGDIAProtein interaction100%VASPProtein interaction100%TLN2Protein interaction100%PXNProtein interaction100%SLC9A3Protein interaction100%NHERF2Protein interaction100%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
42%
Heart
38%
Brain
33%
Ovary
22%
Liver
18%
Gene Interaction Network
Click a node to explore
MSNARHGDIAVASPTLN2PXNSLC9A3NHERF2
PROTEIN STRUCTURE
Preparing viewer…
PDB8CIS Β· 1.52 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.13Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.04 [0.02–0.13]
RankingsWhere MSN stands among ~20K protein-coding genes
  • #995of 20,598
    Most Researched329 Β· top 5%
  • #2,265of 5,498
    Most Pathogenic Variants18
  • #142of 17,882
    Most Constrained (LOEUF)0.13 Β· top 1%
Genes detectedMSN
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Cortical structural differences in major depressive disorder correlate with cell type-specific transcriptional signatures.
PMID: 33712584
Nat Commun Β· 2021
1.00
2
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
PMID: 34645488
Genome Med Β· 2021
0.90
3
Morphometric Similarity Networks Detect Microscale Cortical Organization and Predict Inter-Individual Cognitive Variation.
PMID: 29276055
Neuron Β· 2018
0.80
4
MicroRNA-146a-loaded magnesium silicate nanospheres promote bone regeneration in an inflammatory microenvironment.
PMID: 38221522
Bone Res Β· 2024
0.70
5
GNE-317 Reverses MSN-Mediated Proneural-to-Mesenchymal Transition and Suppresses Chemoradiotherapy Resistance in Glioblastoma via PI3K/mTOR.
PMID: 39921260
Adv Sci (Weinh) Β· 2025
0.64