MDS2 (myelodysplastic syndrome 2 translocation associated)
2003-07-01 Jean-Loup Huret , Sylvie Senon AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
1p36.11
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
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 12203785 | 2002 | 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 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)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 20700443 | 2010 | Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels. | 122 |
| 20700443 | 2010 | Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels. | 122 |
| 12203785 | 2002 | A novel gene, MDS2, is fused to ETV6/TEL in a t(1;12)(p36.1;p13) in a patient with myelodysplastic syndrome. | 5 |
| 12203785 | 2002 | A novel gene, MDS2, is fused to ETV6/TEL in a t(1;12)(p36.1;p13) in a patient with myelodysplastic syndrome. | 5 |
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
