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MSI2 (musashi homolog 2 (drosophila))

Written2005-08Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namesmusashi homolog 2 (Drosophila)
Other aliasMSI2H
FLJ36569
MGC3245
HGNC (Hugo) MSI2
LocusID (NCBI) 124540
Atlas_Id 42893
Location 17q22  [Link to chromosome band 17q22]
Location_base_pair Starts at 57257019 and ends at 57633183 bp from pter ( according to hg19-Feb_2009)  [Mapping MSI2.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ATP5B (12q13.3) / MSI2 (17q22)ATP6V0A1 (17q21.2) / MSI2 (17q22)CFAP46 (10q26.3) / MSI2 (17q22)
CUX1 (7q22.1) / MSI2 (17q22)HOXA9 (7p15.2) / MSI2 (17q22)KSR1 (17q11.1) / MSI2 (17q22)
KSR1 (17q11.2) / MSI2 (17q22)MIR548N (2q31.2) / MSI2 (17q22)MSI2 (17q22) / AKAP1 (17q22)
MSI2 (17q22) / ALDH3A1 (17p11.2)MSI2 (17q22) / CA10 (17q21.33)MSI2 (17q22) / DHX40 (17q23.1)
MSI2 (17q22) / EFCAB5 (17q11.2)MSI2 (17q22) / HOXA9 (7p15.2)MSI2 (17q22) / ICAM2 (17q23.3)
MSI2 (17q22) / PCTP (17q22)MSI2 (17q22) / RAD51C (17q22)MSI2 (17q22) / SAP130 (2q14.3)
MSI2 (17q22) / SLC39A11 (17q24.3)MSI2 (17q22) / TEX2 (17q23.3)MSI2 (17q22) / WIPF2 (17q21.1)
MSI2 (17q22) / WIPF2 (17q21.2)MSI2 (17q22) / YPEL2 (17q22)MYO18A (17q11.2) / MSI2 (17q22)
NR2F2 (15q26.2) / MSI2 (17q22)SLC2A10 (20q13.12) / MSI2 (17q22)STAU2 (8q21.11) / MSI2 (17q22)
STXBP4 (17q22) / MSI2 (17q22)SYNGR2 (17q25.3) / MSI2 (17q22)TM2D2 (8p11.22) / MSI2 (17q22)
TRIM25 (17q22) / MSI2 (17q22)

DNA/RNA

Description The gene spans 424 kb.on plus strand; at least 15 exons.
Transcription alternate splicing; at least 3 transcripts, of which are transcripts of 1,6 and 2,1 kb.

Protein

 
Description 328 amino acids, 35 kDa, and 251 amino acidsThe Musashi (Msi) family genes possess 2 ribonucleoprotein (RNP or ribonucleo particle)-type RNA recognition motifs (RRMs) in the N-term; each RRM comprises 2 highly conserved sequences called RNP1 and RNP2. Heterogeneous nuclear ribonucleoparticle (hnRNP) proteins are nuclear proteins implicated in hnRNA (pre-mRNA transcript) processing; Msi2 and Msi1 have similar RNA-binding specificity.
Expression Ubiquitously expressed in various tissues; expressed predominently in precursor cells in the ventricular zone and subventricular zone of the central nervous system (CNS); in CNS stem cells during embryogenesis; in the postnatal and adult CNS, the expression of Msi2 and Msi1 disappear in most post mitotic or migrating cells, but is found in cells of the astrocyte lineage; coexpressed with Msi1.
Function RNA-binding protein. Some RNA-binding proteins are neural-specific. The development of neural cells from precursors may be partly regulated at the post-transcriptional level by mRNA stabilization or translational control in the cytoplasm. Msi2 may have a unique role in CNS stem cells through life.
Homology MSI1

Mutations

Germinal Defective MSI2 might play a role in certain dementia (although this chromosomal region also contain several loci known to be involved in neurological disorders ( NF1 and others).
Somatic see below.

Implicated in

Note
  
Entity Chronic myelogenous leukemia (CML) in accelerated phase (AP-CML) with either a t(7;17)(p15;q23) and a HOXA9 / MSI2 hybrid gene, or a t(7;17)(q32-34;q23) and a ? possible gene of the plexin family/MSI2 hybrid gene.
Hybrid/Mutated Gene 5' MSI2 - 3' HOXA9 in the t(7;17)(p15;q23)
Oncogenesis In the t(7;17)(p15;q23) the fusion protein contains, from N-term to C-term, the 2 RNA recognition motifs of MSI2 and the the IME and the homeobox domain of HOXA9
  

Bibliography

Vertebrate 2xRBD hnRNP proteins: a comparative analysis of genome, mRNA and protein sequences.
Akindahunsi AA, Bandiera A, Manzini G
Computational biology and chemistry. 2005 ; 29 (1) : 13-23.
PMID 15680582
 
A novel gene, MSI2, encoding a putative RNA-binding protein is recurrently rearranged at disease progression of chronic myeloid leukemia and forms a fusion gene with HOXA9 as a result of the cryptic t(7;17)(p15;q23).
Barbouti A, Höglund M, Johansson B, Lassen C, Nilsson PG, Hagemeijer A, Mitelman F, Fioretos T
Cancer research. 2003 ; 63 (6) : 1202-1206.
PMID 12649177
 
RNA-binding protein Musashi family: roles for CNS stem cells and a subpopulation of ependymal cells revealed by targeted disruption and antisense ablation.
Sakakibara S, Nakamura Y, Yoshida T, Shibata S, Koike M, Takano H, Ueda S, Uchiyama Y, Noda T, Okano H
Proceedings of the National Academy of Sciences of the United States of America. 2002 ; 99 (23) : 15194-15199.
PMID 12407178
 

Citation

This paper should be referenced as such :
Huret, JL
MSI2 (musashi homolog 2 (drosophila))
Atlas Genet Cytogenet Oncol Haematol. 2005;9(4):308-309.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/MSI2ID42893ch17q23.html



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(7;17)(p15;q23) MSI2/HOXA9
t(7;17)(q32-34;q23) MSI2/?
t(10;17)(q26;q22) CFAP46/MSI2



Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 12 ]
  t(8;17)(p11;q22) TM2D2/MSI2
t(8;17)(q21;q22) STAU2/MSI2
t(15;17)(q26;q22) NR2F2/MSI2
t(17;17)(q11;q22) KSR1/MSI2
t(17;17)(q11;q22) MSI2/EFCAB5
t(17;17)(q11;q22) MYO18A/MSI2
t(17;17)(q21;q22) ATP6V0A1/MSI2
t(17;17)(q21;q22) MSI2/WIPF2
t(17;17)(q22;q23) MSI2/DHX40
t(17;17)(q22;q23) MSI2/ICAM2
t(17;17)(q22;q23) MSI2/TEX2
t(17;17)(q22;q25) SYNGR2/MSI2


External links

Nomenclature
HGNC (Hugo)MSI2   18585
Cards
AtlasMSI2ID42893ch17q23
Entrez_Gene (NCBI)MSI2  124540  musashi RNA binding protein 2
AliasesMSI2H
GeneCards (Weizmann)MSI2
Ensembl hg19 (Hinxton)ENSG00000153944 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000153944 [Gene_View]  ENSG00000153944 [Sequence]  chr17:57257019-57633183 [Contig_View]  MSI2 [Vega]
ICGC DataPortalENSG00000153944
TCGA cBioPortalMSI2
AceView (NCBI)MSI2
Genatlas (Paris)MSI2
WikiGenes124540
SOURCE (Princeton)MSI2
Genetics Home Reference (NIH)MSI2
Genomic and cartography
GoldenPath hg38 (UCSC)MSI2  -     chr17:57257019-57633183 +  17q22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MSI2  -     17q22   [Description]    (hg19-Feb_2009)
GoldenPathMSI2 - 17q22 [CytoView hg19]  MSI2 - 17q22 [CytoView hg38]
Genome Data Viewer NCBIMSI2 [Mapview hg19]  
OMIM607897   
Gene and transcription
Genbank (Entrez)AI416968 AI798817 AK093888 AK295060 AK297295
RefSeq transcript (Entrez)NM_001322250 NM_001322251 NM_138962 NM_170721
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MSI2
Alternative Splicing GalleryENSG00000153944
Gene ExpressionMSI2 [ NCBI-GEO ]   MSI2 [ EBI - ARRAY_EXPRESS ]   MSI2 [ SEEK ]   MSI2 [ MEM ]
Gene Expression Viewer (FireBrowse)MSI2 [ Firebrowse - Broad ]
GenevisibleExpression of MSI2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)124540
GTEX Portal (Tissue expression)MSI2
Human Protein AtlasENSG00000153944-MSI2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96DH6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96DH6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96DH6
Splice isoforms : SwissVarQ96DH6
PhosPhoSitePlusQ96DH6
Domaine pattern : Prosite (Expaxy)RRM (PS50102)   
Domains : Interpro (EBI)MSI_RRM1    MSI_RRM2    Nucleotide-bd_a/b_plait_sf    RBD_domain_sf    RRM_dom   
Domain families : Pfam (Sanger)RRM_1 (PF00076)   
Domain families : Pfam (NCBI)pfam00076   
Domain families : Smart (EMBL)RRM (SM00360)  
Conserved Domain (NCBI)MSI2
DMDM Disease mutations124540
PDB (RSDB)6C8U    6DBP    6NTY   
PDB Europe6C8U    6DBP    6NTY   
PDB (PDBSum)6C8U    6DBP    6NTY   
PDB (IMB)6C8U    6DBP    6NTY   
Structural Biology KnowledgeBase6C8U    6DBP    6NTY   
SCOP (Structural Classification of Proteins)6C8U    6DBP    6NTY   
CATH (Classification of proteins structures)6C8U    6DBP    6NTY   
SuperfamilyQ96DH6
Human Protein Atlas [tissue]ENSG00000153944-MSI2 [tissue]
Peptide AtlasQ96DH6
HPRD07438
IPIIPI00073713   IPI00167806   IPI00455161   IPI00910884   IPI00908857   
Protein Interaction databases
DIP (DOE-UCLA)Q96DH6
IntAct (EBI)Q96DH6
FunCoupENSG00000153944
BioGRIDMSI2
STRING (EMBL)MSI2
ZODIACMSI2
Ontologies - Pathways
QuickGOQ96DH6
Ontology : AmiGORNA binding  protein binding  cytoplasm  polysome  poly(U) RNA binding  identical protein binding  stem cell development  
Ontology : EGO-EBIRNA binding  protein binding  cytoplasm  polysome  poly(U) RNA binding  identical protein binding  stem cell development  
Pathways : KEGGmRNA surveillance pathway   
NDEx NetworkMSI2
Atlas of Cancer Signalling NetworkMSI2
Wikipedia pathwaysMSI2
Orthology - Evolution
OrthoDB124540
GeneTree (enSembl)ENSG00000153944
Phylogenetic Trees/Animal Genes : TreeFamMSI2
HOGENOMQ96DH6
Homologs : HomoloGeneMSI2
Homology/Alignments : Family Browser (UCSC)MSI2
Gene fusions - Rearrangements
Fusion : MitelmanATP6V0A1/MSI2 [17q21.2/17q22]  
Fusion : MitelmanKSR1/MSI2 [17q11.1/17q22]  
Fusion : MitelmanMSI2/DHX40 [17q22/17q23.1]  
Fusion : MitelmanMSI2/EFCAB5 [17q22/17q11.2]  
Fusion : MitelmanMSI2/HOXA9 [17q22/7p15.2]  
Fusion : MitelmanMSI2/ICAM2 [17q22/17q23.3]  
Fusion : MitelmanMSI2/TEX2 [17q22/17q23.3]  
Fusion : MitelmanMSI2/WIPF2 [17q22/17q21.1]  
Fusion : MitelmanMYO18A/MSI2 [17q11.2/17q22]  
Fusion : MitelmanNR2F2/MSI2 [15q26.2/17q22]  
Fusion : MitelmanSTAU2/MSI2 [8q21.11/17q22]  
Fusion : MitelmanSYNGR2/MSI2 [17q25.3/17q22]  
Fusion : MitelmanTM2D2/MSI2 [8p11.22/17q22]  
Fusion PortalATP6V0A1 17q21.2 MSI2 17q22 BRCA
Fusion PortalKSR1 17q11.1 MSI2 17q22 BRCA
Fusion PortalMSI2 17q22 AKAP1 17q22 LUSC
Fusion PortalMSI2 17q22 CA10 17q21.33 BRCA
Fusion PortalMSI2 17q22 DHX40 17q23.1 BRCA
Fusion PortalMSI2 17q22 EFCAB5 17q11.2 BRCA
Fusion PortalMSI2 17q22 ICAM2 17q23.3 LUSC
Fusion PortalMSI2 17q22 PCTP 17q22 BRCA
Fusion PortalMSI2 17q22 RAD51C 17q22 BRCA
Fusion PortalMSI2 17q22 SLC39A11 17q24.3 BRCA
Fusion PortalMSI2 17q22 TEX2 17q23.3 BRCA
Fusion PortalMSI2 17q22 WIPF2 17q21.1 BRCA
Fusion PortalMSI2 17q22 YPEL2 17q22 BRCA
Fusion PortalMYO18A 17q11.2 MSI2 17q22 BRCA
Fusion PortalNR2F2 15q26.2 MSI2 17q22 BRCA
Fusion PortalSTAU2 8q21.11 MSI2 17q22 BRCA
Fusion PortalSTXBP4 17q22 MSI2 17q22 BRCA
Fusion PortalSYNGR2 17q25.3 MSI2 17q22 LUSC
Fusion PortalTM2D2 8p11.22 MSI2 17q22 BRCA
Fusion PortalTRIM25 17q22 MSI2 17q22 BRCA
Fusion : TICdbMSI2 [17q22]  -  HOXA9 [7p15.2]
Fusion : Fusion_HubACACA--MSI2    ATP5B--MSI2    ATP6V0A1--MSI2    CARKD--MSI2    CUX1--MSI2    DCUN1D2--MSI2    DHX8--MSI2    FAM155A--MSI2    HOXA9--MSI2    KCTD15--MSI2    KLF12--MSI2    KSR1--MSI2    MIR548N--MSI2    MRPL27--MSI2    MSI2--ABLIM2   
MSI2--AKAP1    MSI2--ALDH3A1    MSI2--ALG14    MSI2--ANKRD13B    MSI2--BCAS3    MSI2--BRD7    MSI2--C18ORF34    MSI2--CA10    MSI2--CISD3    MSI2--CUEDC1    MSI2--DHX40    MSI2--EFCAB5    MSI2--EVI1    MSI2--FAM86C2P    MSI2--FBXO47   
MSI2--HNF1B    MSI2--HOXA9    MSI2--ICAM2    MSI2--IKZF1    MSI2--KHDRBS3    MSI2--MBP    MSI2--NEK8    MSI2--NPEPPS    MSI2--PCTP    MSI2--PRR15L    MSI2--PTP4A1    MSI2--QSOX2    MSI2--RAD51C    MSI2--SAP130    MSI2--SCPEP1   
MSI2--SETBP1    MSI2--SLC39A11    MSI2--SMYD3    MSI2--SYNPO2    MSI2--TEX14    MSI2--TEX2    MSI2--TOB1    MSI2--TSPAN3    MSI2--TTC40    MSI2--UTP18    MSI2--WIPF2    MSI2--YPEL2    MYO18A--MSI2    NR2F2--MSI2    PSMD3--MSI2   
RAI1--MSI2    SDF2--MSI2    SLC2A10--MSI2    SSH2--MSI2    STAU1--MSI2    STAU2--MSI2    STXBP4--MSI2    SYNGR2--MSI2    TM2D2--MSI2    TRIM25--MSI2    TRIM37--MSI2    TTC40--MSI2   
Fusion : QuiverMSI2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMSI2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MSI2
dbVarMSI2
ClinVarMSI2
1000_GenomesMSI2 
Exome Variant ServerMSI2
GNOMAD BrowserENSG00000153944
Varsome BrowserMSI2
Genetic variants : HAPMAP124540
Genomic Variants (DGV)MSI2 [DGVbeta]
DECIPHERMSI2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMSI2 
Mutations
ICGC Data PortalMSI2 
TCGA Data PortalMSI2 
Broad Tumor PortalMSI2
OASIS PortalMSI2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMSI2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMSI2
Mutations and Diseases : HGMDMSI2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutaselect MSI2
DgiDB (Drug Gene Interaction Database)MSI2
DoCM (Curated mutations)MSI2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MSI2 (select a term)
intoGenMSI2
NCG6 (London) select MSI2
Cancer3DMSI2 (select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607897   
Orphanet
DisGeNETMSI2
MedgenMSI2
Genetic Testing Registry MSI2
NextProtQ96DH6 [Medical]
TSGene124540
GENETestsMSI2
Open Targets GeneticsENSG00000153944  [validation]
snp3D : Map Gene to Disease124540
BioCentury BCIQMSI2
ClinGenMSI2
Clinical trials, drugs, therapy
Protein Interactions : CTD124540
Pharm GKB GenePA38590
Clinical trialMSI2
Miscellaneous
canSAR (ICR)MSI2 (select the gene name)
HarmonizomeMSI2
DataMed IndexMSI2
Probes
Litterature
PubMed96 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMSI2
EVEXMSI2
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jul 11 20:30:49 CEST 2020

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