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MDS2 (myelodysplastic syndrome 2 translocation associated)

Written2003-07Jean-Loup Huret, Sylvie Senon
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

HGNC (Hugo) MDS2
LocusID (NCBI) 259283
Atlas_Id 476
Location 1p36.11
Location_base_pair Starts at 23953824 and ends at 23967056 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2016)
CDK10 (16q24.3) / MDS2 (1p36.11)ETV6 (12p13.2) / MDS2 (1p36.11)MDS2 (1p36.11) / ETV6 (12p13.2)
MDS2 (1p36.11) / MALAT1 (11q13.1)

DNA/RNA

Description spans 13 kb; 7 exons
Transcription 4 alternate splicings; major splice: 281 bp, exons 1, 4, 6, 7 are constantly used

Protein

Description The 4 alternate splicings give rise to 2 proteins, of 82 and 140 amino acids
Expression wide

Implicated in

Note
Entity t(1;12)(p36;p13) in myeloid disorders
Prognosis unknown so far
Hybrid/Mutated Gene 5' ETV6 - 3' MDS2
Abnormal Protein truncated ETV6
  

Bibliography

A novel gene, MDS2, is fused to ETV6/TEL in a t(1;12)(p36.1;p13) in a patient with myelodysplastic syndrome.
Odero MD, Vizmanos JL, Rom´n JP, Lahortiga I, Panizo C, Calasanz MJ, Zeleznik-Le NJ, Rowley JD, Novo FJ
Genes, chromosomes & cancer. 2002 ; 35 (1) : 11-19.
PMID 12203785
 

Citation

This paper should be referenced as such :
Huret, JL ; Senon, S
MDS2 (myelodysplastic syndrome 2 translocation associated)
Atlas Genet Cytogenet Oncol Haematol. 2003;7(3):172-172.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/MDS2ID476.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(1;12)(p36;p13) ETV6/MDS2
t(12;12)(p13;q13) ETV6/BAZ2A

External links

Nomenclature
HGNC (Hugo)MDS2   29633
Cards
AtlasMDS2ID476
Entrez_Gene (NCBI)MDS2  259283  myelodysplastic syndrome 2 translocation associated
GeneCards (Weizmann)MDS2
Ensembl hg19 (Hinxton)ENSG00000197880 [Gene_View]  chr1:23953824-23967056 [Contig_View]  MDS2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000197880 [Gene_View]  chr1:23953824-23967056 [Contig_View]  MDS2 [Vega]
ICGC DataPortalENSG00000197880
TCGA cBioPortalMDS2
AceView (NCBI)MDS2
Genatlas (Paris)MDS2
WikiGenes259283
SOURCE (Princeton)MDS2
Genomic and cartography
GoldenPath hg19 (UCSC)MDS2  -     chr1:23953824-23967056 +  1p36   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MDS2  -     1p36   [Description]    (hg38-Dec_2013)
EnsemblMDS2 - 1p36 [CytoView hg19]  MDS2 - 1p36 [CytoView hg38]
Mapping of homologs : NCBIMDS2 [Mapview hg19]  MDS2 [Mapview hg38]
OMIM607305   
Gene and transcription
Genbank (Entrez)AJ310434 BC041472 BC069164
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_032977 NW_004929289
Consensus coding sequences : CCDS (NCBI)MDS2
Cluster EST : UnigeneHs.523369 [ NCBI ]
CGAP (NCI)Hs.523369
Alternative Splicing GalleryENSG00000197880
Gene ExpressionMDS2 [ NCBI-GEO ]   MDS2 [ EBI - ARRAY_EXPRESS ]   MDS2 [ SEEK ]   MDS2 [ MEM ]
Gene Expression Viewer (FireBrowse)MDS2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)259283
GTEX Portal (Tissue expression)MDS2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NDY4 (Uniprot)
NextProtQ8NDY4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NDY4
Splice isoforms : SwissVarQ8NDY4 (Swissvar)
PhosPhoSitePlusQ8NDY4
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
DMDM Disease mutations259283
Blocks (Seattle)MDS2
SuperfamilyQ8NDY4
Human Protein AtlasENSG00000197880
Peptide AtlasQ8NDY4
IPIIPI00168621   
Protein Interaction databases
DIP (DOE-UCLA)Q8NDY4
IntAct (EBI)Q8NDY4
FunCoupENSG00000197880
BioGRIDMDS2
STRING (EMBL)MDS2
ZODIACMDS2
Ontologies - Pathways
QuickGOQ8NDY4
Ontology : AmiGO
Ontology : EGO-EBI
NDEx Network
Atlas of Cancer Signalling NetworkMDS2
Wikipedia pathwaysMDS2
Orthology - Evolution
OrthoDB259283
GeneTree (enSembl)ENSG00000197880
Phylogenetic Trees/Animal Genes : TreeFamMDS2
Homologs : HomoloGeneMDS2
Homology/Alignments : Family Browser (UCSC)MDS2
Gene fusions - Rearrangements
Fusion : MitelmanETV6/MDS2 [12p13.2/1p36.11]  [t(1;12)(p36;p13)]  
Fusion : TICdbETV6 [12p13.2]  -  MDS2 [1p36.11]
Polymorphisms : SNP, variants
NCBI Variation ViewerMDS2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MDS2
dbVarMDS2
ClinVarMDS2
1000_GenomesMDS2 
Exome Variant ServerMDS2
ExAC (Exome Aggregation Consortium)MDS2 (select the gene name)
Genetic variants : HAPMAP259283
Genomic Variants (DGV)MDS2 [DGVbeta]
Mutations
ICGC Data PortalMDS2 
TCGA Data PortalMDS2 
Broad Tumor PortalMDS2
OASIS PortalMDS2 [ Somatic mutations - Copy number]
Cancer Gene: CensusMDS2 
Somatic Mutations in Cancer : COSMICMDS2 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MDS2
DgiDB (Drug Gene Interaction Database)MDS2
DoCM (Curated mutations)MDS2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MDS2 (select a term)
intoGenMDS2
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:23953824-23967056  ENSG00000197880
CONAN: Copy Number AnalysisMDS2 
Mutations and Diseases : HGMDMDS2
OMIM607305   
MedgenMDS2
Genetic Testing Registry MDS2
NextProtQ8NDY4 [Medical]
TSGene259283
GENETestsMDS2
Huge Navigator MDS2 [HugePedia]
snp3D : Map Gene to Disease259283
BioCentury BCIQMDS2
ClinGenMDS2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD259283
Chemical/Pharm GKB GenePA142671475
Clinical trialMDS2
Miscellaneous
canSAR (ICR)MDS2 (select the gene name)
Probes
Litterature
PubMed4 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMDS2
EVEXMDS2
GoPubMedMDS2
iHOPMDS2
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu May 26 11:44:50 CEST 2016

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