MSN (Moesin)
Moesin: A Key ERM Protein in Cell Structure and Signaling
Gene Information Card
| Symbol | MSN |
|---|---|
| Full Name | Moesin |
| Gene Type | Protein coding |
| Chromosomal Location | Xq12 |
| NCBI Gene ID | 4478 ncbi.nlm.nih.gov/gene/4478 |
| Ensembl ID | ENSG00000147065 |
| UniProt ID | P26038 |
| OMIM ID | 309845 |
| HGNC ID | 7373 |
| Aliases | HEL70, IMD50 |
Description
The MSN gene encodes moesin, a member of the ERM (ezrin, radixin, moesin) family of proteins. Moesin functions as a cross-linker between the plasma membrane and the actin cytoskeleton, playing a critical role in cell shape, adhesion, migration, and signal transduction. It is widely expressed in various tissues and is particularly important in immune cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency 50 (IMD50) | Loss-of-function mutations in MSN impair T-cell and B-cell adhesion and migration, leading to combined immunodeficiency. | PMID: 27091476, OMIM #309845 |
| Neoplasms (various) | Altered moesin expression and phosphorylation contribute to cancer cell invasion and metastasis. | COSMIC, PMID: 21804533 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 28.4 | High |
| Spleen | 26.1 | High |
| Bone marrow | 22.3 | High |
| Lung | 18.7 | Medium |
| Colon | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 32.5 | High expression |
| HeLa (cervical) | 24.1 | High expression |
| A549 (lung) | 19.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.511C>T (p.Arg171*) | Nonsense | Rare | Loss of function; associated with IMD50 |
| c.973G>A (p.Glu325Lys) | Missense | Rare | Impaired protein stability; reported in immunodeficiency |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce moesin expression or disrupt actin-binding cause immunodeficiency 50.
Gain of Function (GOF)
Not well documented; overexpression or phosphorylation changes may promote cancer cell motility.
Dominant Negative (DN)
Not reported for MSN.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• ERM proteins in cell adhesion and migration (Reactome: R-HSA-446353)
Protein Summary
Moesin (UniProt P26038) is a 577-amino acid protein with an N-terminal FERM domain that binds membrane proteins and a C-terminal actin-binding domain. It exists in a closed (inactive) and open (active) conformation regulated by phosphorylation at Thr558. Active moesin links the actin cytoskeleton to the plasma membrane, controlling cell surface structure and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MSN Knockout HEK293 Cell Line | EDJ-KQ3822 | Human | 4478 | Details Get a Quote |
| SAMSN1 Knockout HEK293 Cell Line | EDJ-KQ15163 | Human | 64092 | Details Get a Quote |
| MSN Knockout A-549 Cell Line | EDJ-KQ25961 | Human | 4478 | Details Get a Quote |
| MSN Knockout HCT 116 Cell Line | EDJ-KQ25962 | Human | 4478 | Details Get a Quote |
| MSN Knockout HeLa Cell Line | EDJ-KQ24604 | Human | 4478 | Details Get a Quote |
| SAMSN1 Knockout HeLa Cell Line | EDJ-KQ57021 | Human | 64092 | Details Get a Quote |
| SAMSN1 Knockout A-549 Cell Line | EDJ-KQ65527 | Human | 64092 | Details Get a Quote |
| SAMSN1 Knockout HCT 116 Cell Line | EDJ-KQ73961 | Human | 64092 | Details Get a Quote |
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