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MSN (moesin)

Written2001-08Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Other namesmoesin (membrane-organising extension spike protein)
HGNC (Hugo) MSN
LocusID (NCBI) 4478
Atlas_Id 363
Location Xq12  [Link to chromosome band Xq12]
Location_base_pair Starts at 64887511 and ends at 64961793 bp from pter ( according to hg19-Feb_2009)  [Mapping MSN.png]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2016)
ALK (2p23.2) / MSN (Xq12)CALM3 (19q13.32) / MSN (Xq12)CIT (12q24.23) / MSN (Xq12)
MSN (Xq12) / ALK (2p23.2)MSN (Xq12) / CAB39 (2q37.1)MSN (Xq12) / CNST (1q44)
MSN (Xq12) / HTR3D (3q27.1)MSN (Xq12) / KAZN (1p36.21)MSN (Xq12) / NLRC4 (2p22.3)
MSN (Xq12) / RLN2 (9p24.1)MSN (Xq12) / XYLT1 (16p12.3)PCMTD1 (8q11.23) / MSN (Xq12)
SFTPB (2p11.2) / MSN (Xq12)SMARCC1 (3p21.31) / MSN (Xq12)

DNA/RNA

Transcription 3879 bp mRNA with a 1733 bp of coding sequence

Protein

Description 576 amino acids, 75 kDa; contains in N-term a globular membrane binding domain (band 4.1 like domain (amino acids 57 to 224), known also as the four-point-one/ezrin/radixin/moesin domai, an alpha helix domain, and in C-term a domain which interact with actin filaments
Expression wide; expressed differentially in microvilli and cell adhesion sites
Function cytoskeleton protein; binds to the plasma membrane and interacts with actin/myosin; role in cell-cell recognition and signaling
Homology Ezrin, radixin, moesin are called the ERM proteins; they are members ofthe band 4.1 superfamily

Implicated in

Note
Entity t(X;2)(q11;p23) --> MSN- ALK
Disease found in a case of ALK+ anaplasic large cell lymphoma
Abnormal Protein 1005 amino acids, 125 kDa; membrane restricted; ;448 N-term amino acid from MSN, containing the band 4.1 like domain and most of the alpha helix domain, fused to the 557 (instead of the usual 562) C-term amino acids from ALK (i.e. the cytoplasmic portion of ALK with the tyrosine kinase domain).
Oncogenesis tyrosine kinase activity.
  

Bibliography

Ezrin is concentrated in the apical microvilli of a wide variety of epithelial cells whereas moesin is found primarily in endothelial cells.
Berryman M, Franck Z, Bretscher A
Journal of cell science. 1993 ; 105 ( Pt 4) : 1025-1043.
PMID 8227193
 
Regulation of cortical structure by the ezrin-radixin-moesin protein family.
Bretscher A
Current opinion in cell biology. 1999 ; 11 (1) : 109-116.
PMID 10047517
 
The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane.
Chishti AH, Kim AC, Marfatia SM, Lutchman M, Hanspal M, Jindal H, Liu SC, Low PS, Rouleau GA, Mohandas N, Chasis JA, Conboy JG, Gascard P, Takakuwa Y, Huang SC, Benz EJ Jr, Bretscher A, Fehon RG, Gusella JF, Ramesh V, Solomon F, Marchesi VT, Tsukita S, Tsukita S, Hoover KB
Trends in biochemical sciences. 1998 ; 23 (8) : 281-282.
PMID 9757824
 
Moesin: a member of the protein 4.1-talin-ezrin family of proteins.
Lankes WT, Furthmayr H
Proceedings of the National Academy of Sciences of the United States of America. 1991 ; 88 (19) : 8297-8301.
PMID 1924289
 
ERM proteins in cell adhesion and membrane dynamics.
Mangeat P, Roy C, Martin M
Trends in cell biology. 1999 ; 9 (5) : 187-192.
PMID 10322453
 
Molecular characterization of a new ALK translocation involving moesin (MSN-ALK) in anaplastic large cell lymphoma.
Tort F, Pinyol M, Pulford K, Roncador G, Hernandez L, Nayach I, Kluin-Nelemans HC, Kluin P, Touriol C, Delsol G, Mason D, Campo E
Laboratory investigation; a journal of technical methods and pathology. 2001 ; 81 (3) : 419-426.
PMID 11310834
 
Cortical actin organization: lessons from ERM (ezrin/radixin/moesin) proteins.
Tsukita S, Yonemura S
The Journal of biological chemistry. 1999 ; 274 (49) : 34507-34510.
PMID 10574907
 

Citation

This paper should be referenced as such :
Huret, JL
MSN (moesin)
Atlas Genet Cytogenet Oncol Haematol. 2001;5(4):263-264.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/MSNID363.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  Anaplastic large cell lymphoma (ALCL)
t(X;2)(q11;p23) MSN/ALK

External links

Nomenclature
HGNC (Hugo)MSN   7373
Cards
AtlasMSNID363
Entrez_Gene (NCBI)MSN  4478  moesin
AliasesHEL70
GeneCards (Weizmann)MSN
Ensembl hg19 (Hinxton)ENSG00000147065 [Gene_View]  chrX:64887511-64961793 [Contig_View]  MSN [Vega]
Ensembl hg38 (Hinxton)ENSG00000147065 [Gene_View]  chrX:64887511-64961793 [Contig_View]  MSN [Vega]
ICGC DataPortalENSG00000147065
TCGA cBioPortalMSN
AceView (NCBI)MSN
Genatlas (Paris)MSN
WikiGenes4478
SOURCE (Princeton)MSN
Genomic and cartography
GoldenPath hg19 (UCSC)MSN  -     chrX:64887511-64961793 +  Xq11.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MSN  -     Xq11.1   [Description]    (hg38-Dec_2013)
EnsemblMSN - Xq11.1 [CytoView hg19]  MSN - Xq11.1 [CytoView hg38]
Mapping of homologs : NCBIMSN [Mapview hg19]  MSN [Mapview hg38]
OMIM309845   
Gene and transcription
Genbank (Entrez)AK297165 AK308486 AK309354 AK309986 BC001112
RefSeq transcript (Entrez)NM_002444
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_012516 NT_011651 NW_004929443
Consensus coding sequences : CCDS (NCBI)MSN
Cluster EST : UnigeneHs.713679 [ NCBI ]
CGAP (NCI)Hs.713679
Alternative Splicing GalleryENSG00000147065
Gene ExpressionMSN [ NCBI-GEO ]   MSN [ EBI - ARRAY_EXPRESS ]   MSN [ SEEK ]   MSN [ MEM ]
Gene Expression Viewer (FireBrowse)MSN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4478
GTEX Portal (Tissue expression)MSN
Protein : pattern, domain, 3D structure
UniProt/SwissProtP26038 (Uniprot)
NextProtP26038  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP26038
Splice isoforms : SwissVarP26038 (Swissvar)
PhosPhoSitePlusP26038
Domaine pattern : Prosite (Expaxy)FERM_1 (PS00660)    FERM_2 (PS00661)    FERM_3 (PS50057)   
Domains : Interpro (EBI)Band_41_domain    ERM    ERM_C_dom    Ez/rad/moesin-like    FERM/acyl-CoA-bd_prot_3-hlx    FERM_central    FERM_CS    FERM_domain    FERM_N    FERM_PH-like_C    Moesin_tail    PH_dom-like    Ubiquitin-rel_dom   
Domain families : Pfam (Sanger)ERM (PF00769)    FERM_C (PF09380)    FERM_M (PF00373)    FERM_N (PF09379)   
Domain families : Pfam (NCBI)pfam00769    pfam09380    pfam00373    pfam09379   
Domain families : Smart (EMBL)B41 (SM00295)  
DMDM Disease mutations4478
Blocks (Seattle)MSN
PDB (SRS)1E5W    1EF1    1SGH   
PDB (PDBSum)1E5W    1EF1    1SGH   
PDB (IMB)1E5W    1EF1    1SGH   
PDB (RSDB)1E5W    1EF1    1SGH   
Structural Biology KnowledgeBase1E5W    1EF1    1SGH   
SCOP (Structural Classification of Proteins)1E5W    1EF1    1SGH   
CATH (Classification of proteins structures)1E5W    1EF1    1SGH   
SuperfamilyP26038
Human Protein AtlasENSG00000147065
Peptide AtlasP26038
HPRD02399
IPIIPI00219365   
Protein Interaction databases
DIP (DOE-UCLA)P26038
IntAct (EBI)P26038
FunCoupENSG00000147065
BioGRIDMSN
STRING (EMBL)MSN
ZODIACMSN
Ontologies - Pathways
QuickGOP26038
Ontology : AmiGOuropod  double-stranded RNA binding  actin binding  receptor binding  structural constituent of cytoskeleton  protein binding  extracellular space  nucleus  cytoplasm  cytoskeleton  plasma membrane  microvillus  focal adhesion  focal adhesion  movement of cell or subcellular component  leukocyte cell-cell adhesion  regulation of cell shape  regulation of cell size  regulation of cell size  positive regulation of gene expression  basolateral plasma membrane  apical plasma membrane  extrinsic component of membrane  protein kinase binding  gland morphogenesis  membrane to membrane docking  filopodium  pseudopodium  microvillus membrane  vesicle  myelin sheath  apical part of cell  establishment of epithelial cell apical/basal polarity  perinuclear region of cytoplasm  cell adhesion molecule binding  leukocyte migration  establishment of endothelial barrier  extracellular exosome  cellular response to testosterone stimulus  positive regulation of podosome assembly  cell periphery  blood microparticle  regulation of organelle assembly  positive regulation of protein localization to early endosome  positive regulation of cellular protein catabolic process  regulation of lymphocyte migration  positive regulation of early endosome to late endosome transport  
Ontology : EGO-EBIuropod  double-stranded RNA binding  actin binding  receptor binding  structural constituent of cytoskeleton  protein binding  extracellular space  nucleus  cytoplasm  cytoskeleton  plasma membrane  microvillus  focal adhesion  focal adhesion  movement of cell or subcellular component  leukocyte cell-cell adhesion  regulation of cell shape  regulation of cell size  regulation of cell size  positive regulation of gene expression  basolateral plasma membrane  apical plasma membrane  extrinsic component of membrane  protein kinase binding  gland morphogenesis  membrane to membrane docking  filopodium  pseudopodium  microvillus membrane  vesicle  myelin sheath  apical part of cell  establishment of epithelial cell apical/basal polarity  perinuclear region of cytoplasm  cell adhesion molecule binding  leukocyte migration  establishment of endothelial barrier  extracellular exosome  cellular response to testosterone stimulus  positive regulation of podosome assembly  cell periphery  blood microparticle  regulation of organelle assembly  positive regulation of protein localization to early endosome  positive regulation of cellular protein catabolic process  regulation of lymphocyte migration  positive regulation of early endosome to late endosome transport  
Pathways : KEGGLeukocyte transendothelial migration    Regulation of actin cytoskeleton    Measles    Proteoglycans in cancer   
REACTOMEP26038 [protein]
REACTOME PathwaysR-HSA-437239 Recycling pathway of L1 [pathway]
NDEx NetworkMSN
Atlas of Cancer Signalling NetworkMSN
Wikipedia pathwaysMSN
Orthology - Evolution
OrthoDB4478
GeneTree (enSembl)ENSG00000147065
Phylogenetic Trees/Animal Genes : TreeFamMSN
Homologs : HomoloGeneMSN
Homology/Alignments : Family Browser (UCSC)MSN
Gene fusions - Rearrangements
Fusion : MitelmanMSN/ALK [Xq12/2p23.2]  
Fusion : MitelmanMSN/HTR3D [Xq12/3q27.1]  [t(X;3)(q11;q27)]  
Fusion : MitelmanMSN/NLRC4 [Xq12/2p22.3]  [t(X;2)(q11;p22)]  
Fusion : MitelmanMSN/RLN2 [Xq12/9p24.1]  [t(X;9)(q11;p24)]  
Fusion : COSMICMSN [Xq12]  -  ALK [2p23.2]  [fusion_421]  [fusion_422]  [fusion_467]  
Fusion: TCGAMSN Xq12 HTR3D 3q27.1 LUSC
Fusion: TCGAMSN Xq12 NLRC4 2p22.3 BRCA
Fusion : TICdbMSN [Xq12]  -  ALK [2p23.2]
Fusion Cancer (Beijing)SFTPB [2p11.2]  -  MSN [Xq12]  [FUSC003661]
Polymorphisms : SNP, variants
NCBI Variation ViewerMSN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MSN
dbVarMSN
ClinVarMSN
1000_GenomesMSN 
Exome Variant ServerMSN
ExAC (Exome Aggregation Consortium)MSN (select the gene name)
Genetic variants : HAPMAP4478
Genomic Variants (DGV)MSN [DGVbeta]
Mutations
ICGC Data PortalMSN 
TCGA Data PortalMSN 
Broad Tumor PortalMSN
OASIS PortalMSN [ Somatic mutations - Copy number]
Cancer Gene: CensusMSN 
Somatic Mutations in Cancer : COSMICMSN 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch MSN
DgiDB (Drug Gene Interaction Database)MSN
DoCM (Curated mutations)MSN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MSN (select a term)
intoGenMSN
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:64887511-64961793  ENSG00000147065
CONAN: Copy Number AnalysisMSN 
Mutations and Diseases : HGMDMSN
OMIM309845   
MedgenMSN
Genetic Testing Registry MSN
NextProtP26038 [Medical]
TSGene4478
GENETestsMSN
Huge Navigator MSN [HugePedia]
snp3D : Map Gene to Disease4478
BioCentury BCIQMSN
ClinGenMSN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4478
Chemical/Pharm GKB GenePA31178
Clinical trialMSN
Miscellaneous
canSAR (ICR)MSN (select the gene name)
Probes
Litterature
PubMed184 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMSN
EVEXMSN
GoPubMedMSN
iHOPMSN
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 19 19:34:19 CEST 2016

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.