Atlas of Genetics and Cytogenetics in Oncology and Haematology
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 | |
| Atlas | MDS2ID476 |
| 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) |
| Ensembl | MDS2 - 1p36 [CytoView] |
| Mapping of homologs : NCBI | MDS2 [Mapview] |
| OMIM | 607305 |
| Gene and transcription | |
| Gene : Genbank (Entrez) | AJ310434 BC041472 BC069164 |
| Reference sequence (RefSeq transcript) :SRS | |
| Reference transcript : Entrez | |
| RefSeq genomic : SRS | AC_000044 AC_000133 NC_000001 NT_004610 NW_001838573 NW_927841 |
| RefSeq genomic : Entrez | AC_000044 AC_000133 NC_000001 NT_004610 NW_001838573 NW_927841 |
| Consensus coding sequences : CCDS NCBI | MDS2 |
| Cluster EST : Unigene | Hs.523369 [ SRS ] Hs.523369 [ NCBI ] |
| Protein : pattern, domain, 3D structure | |
| Protein : UniProt/SwissProt | Q8NDY4 (SRS) Q8NDY4 (Expasy) Q8NDY4 (Uniprot) |
| With graphics : InterPro | Q8NDY4 |
| Splice isoforms : VarSplice FASTA | Q8NDY4(VarSplice FASTA) |
| Related proteins : CluSTr | Q8NDY4 |
| 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 Atlas | ENSG00000038219 |
| Protein Interaction databases | |
| DIP (DOE-UCLA) | Q8NDY4 |
| IntAct (EBI) | Q8NDY4 |
| FunCoup | ENSG00000038219 |
| Polymorphism : SNP, mutations, diseases | |
| Single Nucleotide Polymorphism (SNP) : dbSNP NCBI | MDS2 |
| SNP : GeneSNP Utah | MDS2 |
| SNP : HGBase | MDS2 |
| Genetic variants : HAPMAP | MDS2 |
| Cancer Gene: Census | MDS2 |
| Somatic Mutations in Cancer : COSMIC | MDS2 |
| Translocation Breakpoints in Cancer : TICdb | MDS2 |
| Mutations and Diseases : HGMD | MDS2 |
| Hereditary diseases : OMIM | 607305 |
| Hereditary diseases : GENETests | 607305 |
| Diseases : Genetic Association | MDS2 |
| General knowledge | |
| Homologs : HomoloGene | MDS2 |
| Homology/Alignments : Family Browser UCSC | MDS2 |
| Phylogenetic Trees/Animal Genes : TreeFam | MDS2 |
| Chemical/Protein Interactions : CTD | 259283 |
| Keywords Ontology : AmiGO | |
| Keywords Ontology : EGO-EBI | |
| Pathways : BIOCARTA | |
| Pathways : KEGG | |
| Other databases | |
| Probes | |
| Probes : Imagenes | MDS2 Related clones (RZPD - Berlin) |
| Literature | |
| PubMed | 3 Pubmed reference(s) in Entrez |
| PubGene | MDS2 |
| 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 articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 07-2003 | Jean-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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