MSN

Chr Xq12

moesin

MANE:: ENST00000360270.7

OMIM: 309845 ↗NCBI: 4478 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MSN · P26038

v62025-08-01

Predicted Aligned Error matrix for MSN — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.4/ 100

Confident

577 residues

Confidence breakdown

Very high(≥ 90)62%
Confident(70–90)27%
Low(50–70)5%
Very low(< 50)6%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary immunodeficiency or monogenic inflammatory bowel disease
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cytopenia - NOT Fanconi anaemia
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

combined immunodeficiency due to moesin deficiency
0.70
cancer
0.48
severe combined immunodeficiency
0.46
combined immunodeficiency
0.46
anaplastic large cell lymphoma
0.28
neurodegenerative disease
0.28
breast carcinoma
0.21
clear cell renal carcinoma
0.21
neoplasm
0.21
glioma
0.21

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Moesin

Ezrin-radixin-moesin (ERM) family protein that connects the actin cytoskeleton to the plasma membrane and thereby regulates the structure and function of specific domains of the cell cortex. Tethers actin filaments by oscillating between a resting and an activated state providing transient interactions between moesin and the actin cytoskeleton (PubMed:10212266). Once phosphorylated on its C-terminal threonine, moesin is activated leading to interaction with F-actin and cytoskeletal rearrangement (PubMed:10212266). These rearrangements regulate many cellular processes, including cell shape determination, membrane transport, and signal transduction (PubMed:12387735, PubMed:15039356). The role of moesin is particularly important in immunity acting on both T and B-cells homeostasis and self-tolerance, regulating lymphocyte egress from lymphoid organs (PubMed:9298994, PubMed:9616160). Modulates phagolysosomal biogenesis in macrophages (By similarity). Also participates in immunologic synapse formation (PubMed:27405666)