MSN (moesin)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (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
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (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
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
309845 7373 ENSG00000147065
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
19
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Combined immunodeficiency due to moesin deficiency Pathogenic; Likely pathogenic rs2147518591, rs1057519074, rs1057519075, rs1602878106 RCV001844378
RCV000412603
RCV000412497
RCV000990848
Ovarian serous cystadenocarcinoma Likely pathogenic rs2522976500 RCV005930301
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs753331094 RCV005932045
Clear cell carcinoma of kidney Benign rs753331094 RCV005932046
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs2523024636 RCV004557813
MSN-related disorder Benign; Likely benign; Uncertain significance rs45457796, rs187378833, rs184924480, rs774396765, rs2071686521, rs372696816 RCV003980609
RCV003908841
RCV003963634
RCV004756440
RCV003420569
RCV003950804
Show/Hide Text Mining Associations (63)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 22251897
Adenocarcinoma Stimulate 27150162
Adenocarcinoma Bronchiolo Alveolar Inhibit 11092524
Adenocarcinoma of Lung Inhibit 11092524
Adenocarcinoma of Lung Associate 33838692
Alzheimer Disease Associate 37866628
Anemia Aplastic Associate 19109204
Antiphospholipid Syndrome Associate 36119109
Aortic Aneurysm Abdominal Associate 27157464
Autoimmune Diseases Associate 36119109