MSN (moesin)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4478
Gene name Gene Name - the full gene name approved by the HGNC.
Moesin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MSN
Synonyms (NCBI Gene) Gene synonyms aliases
HEL70, IMD50
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot 21501518
MIRT006433 hsa-miR-200c-3p Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot 21501518
MIRT006433 hsa-miR-200c-3p Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot 21501518
MIRT006433 hsa-miR-200c-3p Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot 21501518
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
309845 7373 ENSG00000147065
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Immunodeficiency combined immunodeficiency due to moesin deficiency rs1057519074, rs1057519075, rs1602878106 N/A
Show/Hide Text Mining Associations (63)
Associations from Text Mining Disease 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