Atlas of Genetics and Cytogenetics in Oncology and Haematology


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MDS2

Identity

HGNC (Hugo) MDS2
Location 1p36
Location_base_pair Starts at 23953823 and ends at 23967056 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics

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

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

External links

Nomenclature
HGNC (Hugo)MDS2   29633
Entrez_Gene (NCBI)MDS2  259283  myelodysplastic syndrome 2 translocation associated
Cards
AtlasMDS2ID476
GeneCards (Weizmann)MDS2
Ensembl (Hinxton)ENSG00000038219 [Gene_View]  MDS2 [Vega]
AceView (NCBI)MDS2
Genatlas (Paris)MDS2
euGene (Indiana)259283
SOURCE (Stanford)
Gene Expression (Array Express) ENSG00000038219
Genomic and cartography
GoldenPath (UCSC)MDS2  -  1p36   chr1:23953823-23967056 +  1p36   [Description]    (hg19-Feb_2009)
EnsemblMDS2 - 1p36 [CytoView]
Mapping of homologs : NCBIMDS2 [Mapview]
OMIM607305   
Gene and transcription
Gene : Genbank (Entrez)AJ310434 BC041472 BC069164
Reference sequence (RefSeq transcript) :SRS
Reference transcript : Entrez
RefSeq genomic : SRSAC_000044 AC_000133 NC_000001 NT_004610 NW_001838573 NW_927841
RefSeq genomic : EntrezAC_000044 AC_000133 NC_000001 NT_004610 NW_001838573 NW_927841
Consensus coding sequences : CCDS NCBIMDS2
Cluster EST : UnigeneHs.523369 [ SRS ] Hs.523369 [ NCBI ]
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ8NDY4 (SRS) Q8NDY4 (Expasy) Q8NDY4 (Uniprot)
With graphics : InterProQ8NDY4
Splice isoforms : VarSplice FASTAQ8NDY4(VarSplice FASTA)
Related proteins : CluSTrQ8NDY4
Domain families : Pfam SRS
Domain families : Pfam Sanger
Domain families : Pfam NCBI
Blocks (Seattle)Q8NDY4
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
Human Protein AtlasENSG00000038219
Protein Interaction databases
DIP (DOE-UCLA)Q8NDY4
IntAct (EBI)Q8NDY4
FunCoupENSG00000038219
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIMDS2
SNP : GeneSNP UtahMDS2
SNP : HGBaseMDS2
Genetic variants : HAPMAPMDS2
Cancer Gene: CensusMDS2 
Somatic Mutations in Cancer : COSMICMDS2 
Translocation Breakpoints in Cancer : TICdbMDS2 
Mutations and Diseases : HGMDMDS2
Hereditary diseases : OMIM607305   
Hereditary diseases : GENETests607305   
Diseases : Genetic AssociationMDS2
General knowledge
Homologs : HomoloGeneMDS2
Homology/Alignments : Family Browser UCSCMDS2
Phylogenetic Trees/Animal Genes : TreeFamMDS2
Chemical/Protein Interactions : CTD259283
Keywords Ontology : AmiGO
Keywords Ontology : EGO-EBI
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesMDS2 Related clones (RZPD - Berlin)
Literature
PubMed3 Pubmed reference(s) in Entrez
PubGeneMDS2

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, Romˆ°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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written07-2003Jean-Loup Huret, Sylvie Senon

Citation

This paper should be referenced as such :
Huret JL, Senon S . MDS2. Atlas Genet Cytogenet Oncol Haematol. July 2003 .
URL : http://AtlasGeneticsOncology.org/Genes/MDS2ID476.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jul 15 14:48:39 CEST 2010

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