MDS2 (myelodysplastic syndrome 2 translocation associated)

2003-07-01   Jean-Loup Huret , Sylvie Senon 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
LOCATION
1p36.11
IMAGE
Atlas Image
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
ALIAS
-
FUSION GENES

DNA/RNA

Description

spans 13 kb; 7 exons

Transcription

4 alternate splicings; major splice: 281 bp, exons 1, 4, 6, 7 are constantly used

Proteins

Description

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

Expression

wide

Implicated in

Entity name
t(1;12)(p36;p13) in myeloid disorders
Prognosis
unknown so far
Hybrid gene
5 ETV6 - 3 MDS2
Fusion protein
truncated ETV6

Bibliography

Pubmed IDLast YearTitleAuthors
122037852002A novel gene, MDS2, is fused to ETV6/TEL in a t(1;12)(p36.1;p13) in a patient with myelodysplastic syndrome.Odero MD et al

Other Information

Locus ID:

NCBI: 259283
MIM: 607305
HGNC: 29633
Ensembl: ENSG00000197880

Variants:

dbSNP: 259283
ClinVar: 259283
TCGA: ENSG00000197880
COSMIC: MDS2

RNA/Proteins

Expression (GTEx)

0
1
2

References

Pubmed IDYearTitleCitations
207004432010Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.76
122037852002A novel gene, MDS2, is fused to ETV6/TEL in a t(1;12)(p36.1;p13) in a patient with myelodysplastic syndrome.3

Citation

Jean-Loup Huret ; Sylvie Senon

MDS2 (myelodysplastic syndrome 2 translocation associated)

Atlas Genet Cytogenet Oncol Haematol. 2003-07-01

Online version: http://atlasgeneticsoncology.org/gene/476/mds2