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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 57255851 and ends at 57684689 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) [ 2 ]
  t(7;17)(p15;q23) MSI2/HOXA9
t(7;17)(q32-34;q23) 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]  chr17:57255851-57684689 [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  -     chr17:57255851-57684689 +  17q22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MSI2  -     17q22   [Description]    (hg19-Feb_2009)
EnsemblMSI2 - 17q22 [CytoView hg19]  MSI2 - 17q22 [CytoView hg38]
Mapping of homologs : NCBIMSI2 [Mapview hg19]  MSI2 [Mapview hg38]
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
Cluster EST : UnigeneHs.745088 [ NCBI ]
CGAP (NCI)Hs.745088
Alternative Splicing GalleryENSG00000153944
Gene ExpressionMSI2 [ NCBI-GEO ]   MSI2 [ EBI - ARRAY_EXPRESS ]   MSI2 [ SEEK ]   MSI2 [ MEM ]
Gene Expression Viewer (FireBrowse)MSI2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression 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    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
Blocks (Seattle)MSI2
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  stem cell development  
Ontology : EGO-EBIRNA binding  protein binding  cytoplasm  polysome  poly(U) RNA 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
HOVERGENQ96DH6
HOGENOMQ96DH6
Homologs : HomoloGeneMSI2
Homology/Alignments : Family Browser (UCSC)MSI2
Gene fusions - Rearrangements
Fusion : MitelmanATP6V0A1/MSI2 [17q21.2/17q22]  [t(17;17)(q21;q22)]  
Fusion : MitelmanKSR1/MSI2 [17q11.1/17q22]  [t(17;17)(q11;q22)]  
Fusion : MitelmanMSI2/DHX40 [17q22/17q23.1]  [t(17;17)(q22;q23)]  
Fusion : MitelmanMSI2/EFCAB5 [17q22/17q11.2]  [t(17;17)(q11;q22)]  
Fusion : MitelmanMSI2/HOXA9 [17q22/7p15.2]  [t(7;17)(p15;q22)]  
Fusion : MitelmanMSI2/ICAM2 [17q22/17q23.3]  [t(17;17)(q22;q23)]  
Fusion : MitelmanMSI2/TEX2 [17q22/17q23.3]  [t(17;17)(q22;q23)]  
Fusion : MitelmanMSI2/WIPF2 [17q22/17q21.1]  [t(17;17)(q21;q22)]  
Fusion : MitelmanMYO18A/MSI2 [17q11.2/17q22]  [t(17;17)(q11;q22)]  
Fusion : MitelmanNR2F2/MSI2 [15q26.2/17q22]  [t(15;17)(q26;q22)]  
Fusion : MitelmanSTAU2/MSI2 [8q21.11/17q22]  [t(8;17)(q21;q22)]  
Fusion : MitelmanSYNGR2/MSI2 [17q25.3/17q22]  [t(17;17)(q22;q25)]  
Fusion : MitelmanTM2D2/MSI2 [8p11.22/17q22]  [t(8;17)(p11;q22)]  
Fusion: TCGAATP6V0A1 17q21.2 MSI2 17q22 BRCA
Fusion: TCGAKSR1 17q11.1 MSI2 17q22 BRCA
Fusion: TCGAMSI2 17q22 AKAP1 17q22 LUSC
Fusion: TCGAMSI2 17q22 CA10 17q21.33 BRCA
Fusion: TCGAMSI2 17q22 DHX40 17q23.1 BRCA
Fusion: TCGAMSI2 17q22 EFCAB5 17q11.2 BRCA
Fusion: TCGAMSI2 17q22 ICAM2 17q23.3 LUSC
Fusion: TCGAMSI2 17q22 PCTP 17q22 BRCA
Fusion: TCGAMSI2 17q22 RAD51C 17q22 BRCA
Fusion: TCGAMSI2 17q22 SLC39A11 17q24.3 BRCA
Fusion: TCGAMSI2 17q22 TEX2 17q23.3 BRCA
Fusion: TCGAMSI2 17q22 WIPF2 17q21.1 BRCA
Fusion: TCGAMSI2 17q22 YPEL2 17q22 BRCA
Fusion: TCGAMYO18A 17q11.2 MSI2 17q22 BRCA
Fusion: TCGANR2F2 15q26.2 MSI2 17q22 BRCA
Fusion: TCGASTAU2 8q21.11 MSI2 17q22 BRCA
Fusion: TCGASTXBP4 17q22 MSI2 17q22 BRCA
Fusion: TCGASYNGR2 17q25.3 MSI2 17q22 LUSC
Fusion: TCGATM2D2 8p11.22 MSI2 17q22 BRCA
Fusion: TCGATRIM25 17q22 MSI2 17q22 BRCA
Fusion : TICdbMSI2 [17q22]  -  HOXA9 [7p15.2]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMSI2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MSI2
dbVarMSI2
ClinVarMSI2
1000_GenomesMSI2 
Exome Variant ServerMSI2
ExAC (Exome Aggregation Consortium)ENSG00000153944
GNOMAD BrowserENSG00000153944
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]
Cancer Gene: CensusMSI2 
Somatic Mutations in Cancer : COSMICMSI2  [overview]  [genome browser]  [tissue]  [distribution]  
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
BioMutasearch 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
NCG5 (London)MSI2
Cancer3DMSI2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607897   
Orphanet
MedgenMSI2
Genetic Testing Registry MSI2
NextProtQ96DH6 [Medical]
TSGene124540
GENETestsMSI2
Target ValidationMSI2
Huge Navigator MSI2 [HugePedia]
snp3D : Map Gene to Disease124540
BioCentury BCIQMSI2
ClinGenMSI2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD12440=/A>
Chemical/Pharm GKB GenePA38590
Clinical trialMSI2
Miscellaneous
canSAR (ICR)MSI2 (select the gene name)
Probes
Litterature
PubMed50 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMSI2
EVEXMSI2
GoPubMedMSI2
iHOPMSI2
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Oct 12 16:27:58 CEST 2017

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jlhuret@AtlasGeneticsOncology.org.