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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)


Other alias
LocusID (NCBI) 259283
Atlas_Id 476
Location 1p36.11  [Link to chromosome band 1p36]
Location_base_pair Starts at and ends at bp from pter
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CDK10 (16q24.3) / MDS2 (1p36.11)ETV6 (12p13.2) / MDS2 (1p36.11)MDS2 (1p36.11) / ETV6 (12p13.2)
MDS2 (1p36.11) / MALAT1 (11q13.1)


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


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


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


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 :

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(1;12)(p36;p13) ETV6/MDS2
t(1;12)(p36;p13) ETV6/MDS2
t(12;12)(p13;q13) ETV6/BAZ2A

External links

Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)259283
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
canSAR (ICR) (select the gene name)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Oct 18 17:42:36 CEST 2018

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