Gene Gene information from NCBI Gene database.
Entrez ID 4478
Gene name Moesin
Gene symbol MSN
Synonyms (NCBI Gene)
HEL70IMD50
Chromosome X
Chromosome location Xq12
Summary Moesin (for membrane-organizing extension spike protein) is a member of the ERM family which includes ezrin and radixin. ERM proteins appear to function as cross-linkers between plasma membranes and actin-based cytoskeletons. Moesin is localized to filopo
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs774679103 C>A,T Likely-pathogenic Coding sequence variant, missense variant, stop gained
rs1057519074 C>T Pathogenic Missense variant, coding sequence variant
rs1057519075 C>T Pathogenic Coding sequence variant, stop gained
rs1602878106 A>C Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
928
miRTarBase ID miRNA Experiments Reference
MIRT004153 hsa-miR-192-5p Microarray 16822819
MIRT006433 hsa-miR-200c-3p ImmunoblotLuciferase reporter assayqRT-PCRWestern blot 21501518
MIRT006433 hsa-miR-200c-3p ImmunoblotLuciferase reporter assayqRT-PCRWestern blot 21501518
MIRT006433 hsa-miR-200c-3p ImmunoblotLuciferase reporter assayqRT-PCRWestern blot 21501518
MIRT006433 hsa-miR-200c-3p ImmunoblotLuciferase reporter assayqRT-PCRWestern blot 21501518
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
78
GO ID Ontology Definition Evidence Reference
GO:0001771 Process Immunological synapse formation IDA 27405666
GO:0001931 Component Uropod IEA
GO:0003725 Function Double-stranded RNA binding IDA 21266579
GO:0003779 Function Actin binding IBA
GO:0003779 Function Actin binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
309845 7373 ENSG00000147065
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P26038
Protein name Moesin (Membrane-organizing extension spike protein)
Protein function 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 resti
PDB 1E5W , 1EF1 , 1SGH , 6TXQ , 6TXS , 8CIR , 8CIS , 8CIT , 8CIU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09379 FERM_N 9 71 FERM N-terminal domain Domain
PF00373 FERM_M 88 206 FERM central domain Domain
PF09380 FERM_C 210 299 FERM C-terminal PH-like domain Domain
PF00769 ERM 338 577 Ezrin/radixin/moesin family Coiled-coil
Tissue specificity TISSUE SPECIFICITY: In all tissues and cultured cells studied.
Sequence
Sequence length 577
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Tight junction
Leukocyte transendothelial migration
Regulation of actin cytoskeleton
Measles
Proteoglycans in cancer
  Recycling pathway of L1
Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Combined immunodeficiency due to moesin deficiency Pathogenic; Likely pathogenic rs2147518591, rs1057519074, rs1057519075, rs1602878106 RCV001844378
RCV000412603
RCV000412497
RCV000990848
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma Likely pathogenic rs2522976500 RCV005930301
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 15908786
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 11092524, 16142420
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 25801911
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia GWASCAT_DG 28196072
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 37866628 Associate
★☆☆☆☆
Found in Text Mining only
Anaplastic carcinoma Anaplastic Carcinoma BEFREE 19432821
★☆☆☆☆
Found in Text Mining only
Anemia Aplastic Aplastic anemia Pubtator 19109204 Associate
★☆☆☆☆
Found in Text Mining only
Antiphospholipid Syndrome Antiphospholipid Syndrome BEFREE 25743886
★☆☆☆☆
Found in Text Mining only
Antiphospholipid Syndrome Antiphospholipid syndrome Pubtator 36119109 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 27157464 Associate
★☆☆☆☆
Found in Text Mining only