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Aliases for MDS2 Gene

Aliases for MDS2 Gene

  • Myelodysplastic Syndrome 2 Translocation Associated 2 3 5

External Ids for MDS2 Gene

Previous GeneCards Identifiers for MDS2 Gene

  • GC01U990489
  • GC01P023024
  • GC01P023435
  • GC01P023827
  • GC01P023907
  • GC01P022203

Summaries for MDS2 Gene

GeneCards Summary for MDS2 Gene

MDS2 (Myelodysplastic Syndrome 2 Translocation Associated) is a Protein Coding gene. Diseases associated with MDS2 include Myelodysplastic Syndrome.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MDS2 Gene

Genomics for MDS2 Gene

Regulatory Elements for MDS2 Gene

Enhancers for MDS2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F023628 1 Ensembl ENCODE 17 +47.9 47870 1.5 HDGF CEBPG ZNF121 POLR2A PRDM10 MAZ L3MBTL2 HLF BHLHE40 CEBPB MDS2 ID3 E2F2 ASAP3 FUCA1 GC01P023610 LOC729856
GH01F023609 0.4 ENCODE 12.3 +29.0 28963 1.5 MIER1 MIER2 REST MNT CREB3 ZNF335 JUND ZFP3 ID3 BCL6 MDS2 ID3 E2F2 GC01P023610 LOC729856
GH01F023611 0.9 Ensembl ENCODE 12.3 +32.8 32754 5.1 HDGF PKNOX1 ZNF121 ETV6 FOS CREM SMARCA5 NFYA NFYC USF2 MDS2 ID3 E2F2 GC01P023610 LOC729856
GH01F023553 1.4 FANTOM5 ENCODE 12.2 -22.3 -22275 12.2 CREB3L1 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF263 SP3 NFYC TBX21 ZNF436-AS1 LINC01355 MDS2 E2F2 ASAP3 ID3 ZNF436 TCEA3 GC01M023559 GC01M023560
GH01F023616 0.7 Ensembl ENCODE 12.1 +38.1 38112 5.5 HDGF TBP HDAC1 PKNOX1 ATF1 BRCA1 GATA2 EGR1 CREM KLF13 MDS2 ID3 E2F2 GC01P023610 LOC729856
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MDS2 on UCSC Golden Path with GeneCards custom track

Genomic Location for MDS2 Gene

Chromosome:
1
Start:
23,581,495 bp from pter
End:
23,640,568 bp from pter
Size:
59,074 bases
Orientation:
Plus strand

Genomic View for MDS2 Gene

Genes around MDS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MDS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MDS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MDS2 Gene

Proteins for MDS2 Gene

  • Protein details for MDS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NDY4-MDS2_HUMAN
    Recommended name:
    Myelodysplastic syndrome 2 translocation-associated protein
    Protein Accession:
    Q8NDY4

    Protein attributes for MDS2 Gene

    Size:
    140 amino acids
    Molecular mass:
    15384 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MDS2 Gene

Post-translational modifications for MDS2 Gene

No Post-translational modifications

Other Protein References for MDS2 Gene

ENSEMBL proteins:

No data available for DME Specific Peptides for MDS2 Gene

Domains & Families for MDS2 Gene

Protein Domains for MDS2 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for MDS2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MDS2: view

No data available for Gene Families and UniProtKB/Swiss-Prot for MDS2 Gene

Function for MDS2 Gene

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MDS2 Gene

Localization for MDS2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MDS2 Gene COMPARTMENTS Subcellular localization image for MDS2 gene
Compartment Confidence
extracellular 5
cytosol 1
nucleus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for MDS2 Gene

Pathways & Interactions for MDS2 Gene

SuperPathways for MDS2 Gene

No Data Available

Interacting Proteins for MDS2 Gene

Selected Interacting proteins: Q8NDY4-MDS2_HUMAN for MDS2 Gene via IID

Symbol External ID(s) Details
ETV6

Gene Ontology (GO) - Biological Process for MDS2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for MDS2 Gene

Transcripts for MDS2 Gene

mRNA/cDNA for MDS2 Gene

(4) Additional mRNA sequences :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MDS2 Gene

Myelodysplastic syndrome 2 translocation associated:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MDS2 Gene

No ASD Table

Relevant External Links for MDS2 Gene

GeneLoc Exon Structure for
MDS2
ECgene alternative splicing isoforms for
MDS2

Expression for MDS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MDS2 Gene

mRNA differential expression in normal tissues according to GTEx for MDS2 Gene

This gene is overexpressed in Whole Blood (x8.1), Thyroid (x6.5), Spleen (x5.5), and Small Intestine - Terminal Ileum (x4.4).

NURSA nuclear receptor signaling pathways regulating expression of MDS2 Gene:

MDS2

SOURCE GeneReport for Unigene cluster for MDS2 Gene:

Hs.523369

mRNA Expression by UniProt/SwissProt for MDS2 Gene:

Q8NDY4-MDS2_HUMAN
Tissue specificity: Highly expressed in peripheral blood leukocytes, spleen, thymus, kidney, pancreas and lung.
genes like me logo Genes that share expression patterns with MDS2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for MDS2 Gene

Orthologs for MDS2 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for MDS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MDS2 35
  • 96 (a)
OneToOne
Species where no ortholog for MDS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for MDS2 Gene

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

Paralogs for MDS2 Gene

No data available for Paralogs for MDS2 Gene

Variants for MDS2 Gene

Sequence variations from dbSNP and Humsavar for MDS2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10601291 -- 23,636,895(+) TATAT(-/AT)ATATA intron-variant
rs10654574 -- 23,638,210(+) GAGAG(-/GA)GGAGA intron-variant
rs10666555 -- 23,629,723(+) TAATA(-/ATA)TTGGT intron-variant
rs10693177 -- 23,638,211(+) AGAGG(-/AG/GA)AGAGA intron-variant
rs10917402 -- 23,628,562(+) TGATC(C/T)GCCTG nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for MDS2 Gene

Variant ID Type Subtype PubMed ID
dgv25e212 CNV loss 25503493
esv275297 CNV loss 21479260
nsv460840 CNV loss 19166990
nsv545774 CNV loss 21841781
nsv834435 CNV loss 17160897

Variation tolerance for MDS2 Gene

Gene Damage Index Score: 10.50; 91.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MDS2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MDS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MDS2 Gene

Disorders for MDS2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MDS2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
myelodysplastic syndrome
  • myelodysplastic syndrome, somatic
- elite association - COSMIC cancer census association via MalaCards
Search MDS2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MDS2_HUMAN
  • Note=A chromosomal aberration involving MDS2 is a cause of myelodysplastic syndrome (MDS). Translocation t(1;12)(p36.1;p13) with ETV6. {ECO:0000269 PubMed:12203785}.

Relevant External Links for MDS2

Human Genome Epidemiology (HuGE) Navigator
MDS2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MDS2
genes like me logo Genes that share disorders with MDS2: view

No data available for Genatlas for MDS2 Gene

Publications for MDS2 Gene

  1. A novel gene, MDS2, is fused to ETV6/TEL in a t(1;12)(p36.1;p13) in a patient with myelodysplastic syndrome. (PMID: 12203785) Odero M.D. … Novo F.J. (Genes Chromosomes Cancer 2002) 2 3 4 22 64
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  3. Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels. (PMID: 20700443) Meyer T.E. … . (PLoS Genet. 2010) 3 64
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64

Products for MDS2 Gene

Sources for MDS2 Gene

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