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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MDS2 Gene

protein-coding   GIFtS: 36
GCID: GC01P023907

Myelodysplastic Syndrome 2 Translocation Associated

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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:         
NONCODE14:n407581 n346444 n381084 n381083      

Export aliases for MDS2 gene to outside databases

Previous GC identifers: GC01U990489 GC01P023024 GC01P023435 GC01P023827 GC01P022203


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for MDS2 Gene: 
MDS2 (myelodysplastic syndrome 2 translocation associated) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with MDS2 include decubitus ulcer, and myelodysplastic syndromes.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_004610.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MDS2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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 

MDS2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

MDS2 Protein Expression

ENSEMBL proteins: 
 ENSP00000363683  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Animal Models:
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(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MDS2

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MDS2

Search CenterWatch for drugs/clinical trials and news about 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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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
miRNA
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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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

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


See MDS2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MDS2

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)
About This Section

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 LOC1006159296
--
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)
About This Section
  --

(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/317 SNPs in MDS2 are shown (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

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
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

  • 2 diseases for MDS2:    About MalaCards
    decubitus ulcer    myelodysplastic syndromes

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

    MDS2 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for MDS2 gene integrated from 9 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. (2002)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    3. Genome-wide association studies of serum magnesium, p otassium, and sodium concentrations identify six Loci influencing serum magnesi um levels. (PubMed id 20700443)1 Meyer T.E.... . (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. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 259283 HGNC: 29633 Ensembl:ENSG00000197880 euGenes: HUgn259283 ECgene: MDS2
    H-InvDB: MDS2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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