Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MDS2 Gene

Aliases for MDS2 Gene

  • Myelodysplastic Syndrome 2 Translocation Associated 2 3 5
  • Myelodysplastic Syndrome 2 Translocation-Associated Protein 3 4

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 and Decubitus Ulcer.

Additional gene information for MDS2 Gene

No data available for Entrez Gene Summary , CIViC 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

GeneHancer (GH) Regulatory Elements for MDS2 Gene

Promoters and enhancers for MDS2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J023580 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 600.7 +0.2 230 2.6 RXRA SP1 CTBP1 FOS POLR2A NR2F2 TFAP4 NRF1 GLIS1 MDS2 HNRNPR ENSG00000285802
GH01J023553 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.2 -22.3 -22274 12.2 MTA3 SP1 ZNF652 ZFX ELF3 MNT CBFA2T2 ZNF148 NKRF POLR2A ID3 PIR53087 LOC105376859 GC01M023560 GC01M023559 LINC01355 SRSF10 RPL11 MDS2 E2F2
GH01J023637 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 11.9 +56.3 56251 0.8 ZNF652 CC2D1A CTCF CEBPG YY1 SP7 PPARG CREM RAD21 KAT8 MDS2 ID3 GC01P023610 ENSG00000229239
GH01J023616 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 12.2 +38.1 38111 5.5 NKRF ZSCAN21 NCOA3 EGR1 SMARCA4 MTA1 IKZF1 POLR2A DPF2 ZBTB8A SRSF10 MDS2 ID3 HNRNPR E2F2 PNRC2 LINC01355 KDM1A GC01P023610 ENSG00000229239
GH01J023626 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 11.9 +45.9 45897 2 GTF2F1 ZNF384 MCM2 MZF1 IKZF1 CREB1 GMEB1 ZBTB8A ATF1 PKNOX1 SRSF10 RPL11 PNRC2 ELOA LINC01355 FUCA1 HNRNPR ID3 MDS2 E2F2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MDS2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MDS2 gene promoter:
  • AREB6
  • c-Ets-1
  • Egr-1
  • FOXD3
  • FOXO1
  • FOXO1a
  • HSF1 (long)
  • HSF1short
  • RREB-1

Genomic Locations for MDS2 Gene

Genomic Locations for MDS2 Gene
59,074 bases
Plus strand
59,074 bases
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:
    Recommended name:
    Myelodysplastic syndrome 2 translocation-associated protein
    Protein Accession:

    Protein attributes for MDS2 Gene

    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

No data available for DME Specific Peptides for MDS2 Gene

Domains & Families for MDS2 Gene

Gene Families for MDS2 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for MDS2 Gene


Suggested Antigen Peptide Sequences for MDS2 Gene

GenScript: Design optimal peptide antigens:
  • Myelodysplastic syndrome 2 translocation-associated protein (MDS2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

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

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

Function for MDS2 Gene

Phenotypes From GWAS Catalog for MDS2 Gene

Animal Model Products

CRISPR 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MDS2 gene
Compartment Confidence
extracellular 2
nucleus 1
cytosol 0

Gene Ontology (GO) - Cellular Components for MDS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 23580065
genes like me logo Genes that share ontologies with MDS2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for MDS2 Gene

Pathways & Interactions for MDS2 Gene

PathCards logo

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

Gene Ontology (GO) - Biological Process for MDS2 Gene


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

Drugs & Compounds for MDS2 Gene

No Compound Related Data Available

Transcripts for MDS2 Gene

mRNA/cDNA for MDS2 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
(3) RNA Central transcripts :

Unigene Clusters for MDS2 Gene

Myelodysplastic syndrome 2 translocation associated:
Representative Sequences:

CRISPR Products

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

No ASD Table

Relevant External Links for MDS2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MDS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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:


SOURCE GeneReport for Unigene cluster for MDS2 Gene:


mRNA Expression by UniProt/SwissProt for MDS2 Gene:

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 , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia MDS2 35
  • 96 (a)
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

Gene Tree for MDS2 (if available)
Gene Tree for MDS2 (if available)
Evolutionary constrained regions (ECRs) for MDS2: view image

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 Variation AA Info Type
rs1000474083 -- 23,634,192(+) C/T intron_variant
rs1000776557 -- 23,633,898(+) C/T intron_variant
rs1000982965 -- 23,640,159(+) C/T intron_variant
rs1001369406 -- 23,630,877(+) G/A intron_variant
rs1001389957 -- 23,638,016(+) T/C intron_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)

Additional Variant Information for MDS2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for MDS2 Gene

MalaCards: The human disease database

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

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


  • 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}.

Additional Disease Information for 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 MD … Novo FJ (Genes, chromosomes & cancer 2002) 2 3 4 23 58
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  3. Shotgun proteomics reveals specific modulated protein patterns in tears of patients with primary open angle glaucoma naïve to therapy. (PMID: 23580065) Pieragostino D … Del Boccio P (Molecular bioSystems 2013) 3 58
  4. Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels. (PMID: 20700443) Meyer TE … Meta Analysis of Glucose and Insulin Related Traits Consortium (PLoS genetics 2010) 3 58
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for MDS2 Gene

Sources for MDS2 Gene

Loading form....