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MDS2 Gene

protein-coding   GIFtS: 36
GCID: GC01P023907

Myelodysplastic Syndrome 2 Translocation Associated

  See MDS2-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Myelodysplastic Syndrome 2 Translocation Associated1 2

External Ids:    HGNC: 296331   Entrez Gene: 2592832   Ensembl: ENSG000001978807   OMIM: 6073055   UniProtKB: Q8NDY43   
ORGUL members:         

Export aliases for MDS2 gene to outside databases

Previous GC identifers: GC01U990489 GC01P023024 GC01P023435 GC01P023827 GC01P022203


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MDS2 Gene:
MDS2 (myelodysplastic syndrome 2 translocation associated) is a protein-coding gene. Diseases associated with MDS2 include decubitus ulcer.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the MDS2 gene promoter:
         RREB-1   Egr-1   FOXD3   HSF1 (long)   c-Ets-1   AREB6   FOXO1a   HSF1short   FOXO1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for MDS2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MDS2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36   Ensembl cytogenetic band:  1p36.11   HGNC cytogenetic band: 1p36

MDS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MDS2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P023907:  view genomic region     (about GC identifiers)

Start:
23,907,985 bp from pter      End:
23,967,058 bp from pter
Size:
59,074 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for MDS2

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MDS2_HUMAN, Q8NDY4 (See protein sequence)
Recommended Name: Myelodysplastic syndrome 2 translocation-associated protein  
Size: 140 amino acids; 15384 Da

Explore the universe of human proteins at neXtProt for MDS2: NX_Q8NDY4

Explore proteomics data for MDS2 at MOPED


See MDS2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


ENSEMBL proteins: 
 ENSP00000363683  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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ProtoNet protein and cluster: Q8NDY4


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular2
cytosol1
nucleus1

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MDS2
Interactions:

    Search GeneGlobe Interaction Network for MDS2

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for MDS2



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Unigene Cluster for MDS2:

Myelodysplastic syndrome 2 translocation associated
Hs.523369  [show with all ESTs]
Unigene Representative Sequence: BC041472
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000477916(uc001bhi.3 uc001bhj.3) ENST00000374555
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Additional mRNA sequence: 

AJ310434.2 BC041472.1 BC069164.1 NR_027042.1 

2 DOTS entries:

DT.99927507  DT.95150856 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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MDS2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TGAGGACCCA
MDS2 Expression
About this image

MDS2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

MDS2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.523369

UniProtKB/Swiss-Prot: MDS2_HUMAN, Q8NDY4
Tissue specificity: Highly expressed in peripheral blood leukocytes, spleen, thymus, kidney, pancreas and lung

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MDS2

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of human and chimp.

Orthologs for MDS2 gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia MDS26
myelodysplastic syndrome 2 translocation associate...
96(a)
1 ↔ 1
1(23646822-23657820)


ENSEMBL Gene Tree for MDS2 (if available)
TreeFam Gene Tree for MDS2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for MDS2 (see all 317)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1492569051,2
--23951882(+) CACAAC/TAAGGA 1 -- us2k10--------
rs94243311,2
C,F--23951883(+) acaacG/Aaggaa 1 -- us2k19Minor allele frequency- A:0.23NA WA CSA EA 369
rs1444905311,2
--23951930(+) CATGTG/TGGCTG 1 -- us2k10--------
rs1484367551,2
C--23952023(+) GCTCAA/GCCTAA 1 -- us2k10--------
rs1417208211,2
--23952298(+) TTACCC/TGCTCT 1 -- us2k10--------
rs617773031,2
C,F--23952365(+) TTGATG/AATGAA 1 -- us2k16Minor allele frequency- A:0.23NA WA EA 364
rs1919834851,2
--23952536(+) TGATGA/GTGATG 1 -- us2k10--------
rs792644041,2
C--23952845(+) TGATGA/GTGATG 1 -- us2k10--------
rs617773041,2
C,F--23952879(+) GATGAT/CGGGGA 1 -- us2k16Minor allele frequency- C:0.22NA WA EA 364
rs1829051361,2
--23952977(+) TGTGAA/CGGTCC 1 -- us2k10--------

HapMap Linkage Disequilibrium report for MDS2 (23907985 - 23967058 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for MDS2:    About this table    
Variant IDTypeSubtypePubMed ID
nsv834435CNV Loss17160897
esv275297CNV Loss21479260
nsv460840CNV Loss19166990

Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing MDS2
DNA2.0 Custom Variant and Variant Library Synthesis for MDS2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 607305    OMIM disorders: --

UniProtKB/Swiss-Prot: MDS2_HUMAN, Q8NDY4
  • Note=A chromosomal aberration involving MDS2 is a cause of myelodysplastic syndrome (MDS). Translocation
    t(1;12)(p36.1;p13) with ETV6

  • 1 disease for MDS2:    
    About MalaCards
    decubitus ulcer

    1 disease from the University of Copenhagen DISEASES database for MDS2:
    Decubitus ulcer

    Find genes that share disorders with MDS2           About GenesLikeMe

    Human Genome Epidemiology (HuGE) Navigator: MDS2 (1 document)

    Export disorders for MDS2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MDS2 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with MDS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel gene, MDS2, is fused to ETV6/TEL in a t(1;12)(p36.1;p13) in a patient with myelodysplastic syndrome. (PubMed id 12203785)1, 2, 3, 9 Odero M.D.... Novo F.J. (Genes Chromosomes Cancer 2002)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    3. Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels. (PubMed id 20700443)1 Meyer T.E.... . (PLoS Genet. 2010)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 259283 HGNC: 29633 Ensembl:ENSG00000197880 euGenes: HUgn259283 ECgene: MDS2
    H-InvDB: MDS2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MDS2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MDS2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MDS2 gene:
    Search GeneIP for patents involving MDS2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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