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MDS2 myelodysplastic syndrome 2 translocation associated [ Homo sapiens (human) ]

Gene ID: 259283, updated on 19-May-2026
Official Symbol
MDS2provided by HGNC
Official Full Name
myelodysplastic syndrome 2 translocation associatedprovided by HGNC
Primary source
HGNC:HGNC:29633
See related
Ensembl:ENSG00000197880 MIM:607305; AllianceGenome:HGNC:29633
Gene type
ncRNA
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Located in extracellular space. [provided by Alliance of Genome Resources, Jul 2025]
Expression
Biased expression in lymph node (RPKM 1.2), thyroid (RPKM 0.9) and 6 other tissues See more
Orthologs
all
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Try the new Transcripts and proteins table
See MDS2 in Genome Data Viewer
Location:
1p36.11
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (23627334..23640568)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (23461911..23475166)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (23953824..23967058)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 366 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:23886059-23886305 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:23895549-23896083 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 367 Neighboring gene uncharacterized LOC107984928 Neighboring gene inhibitor of DNA binding 3 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:23918734-23919933 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:23919962-23920732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 369 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:23923279-23924076 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:23924875-23925672 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:23925673-23926470 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:23926471-23927268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 371 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:23945502-23946002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:23946003-23946503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 373 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 48 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 374 Neighboring gene ribosomal protein L11

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. 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, et al. Genes Chromosomes Cancer, 2002 Sep. PMID 12203785
  2. Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels. Meyer TE, et al. PLoS Genet, 2010 Aug 5. PMID 20700443, Free PMC Article
  3. Shotgun proteomics reveals specific modulated protein patterns in tears of patients with primary open angle glaucoma naïve to therapy. Pieragostino D, et al. Mol Biosyst, 2013 Jun. PMID 23580065
  4. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.
  2. The product of the ETV6-MDS2 fusion transcript in a patient with myelodysplastic syndrome predicts a short ETV6 protein containing the first 54 amino acids of ETV6 plus four novel amino acids, lacking both the PTN and the DNA-binding domains.
    Title: A novel gene, MDS2, is fused to ETV6/TEL in a t(1;12)(p36.1;p13) in a patient with myelodysplastic syndrome.
Submit: New GeneRIF Correction

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

Markers

Homology

Other Names

  • myelodysplastic syndrome 2 translocation-associated protein

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in extracellular region HDA PubMed 

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

RNA

  1. NR_167901.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL451000
    Related
    ENST00000374555.7

  2. NR_167902.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL451000
    Related
    ENST00000686180.2

  3. NR_167903.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL451000
    Related
    ENST00000795855.1

  4. NR_167904.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL451000

  5. NR_167905.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL451000

  6. NR_167906.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL451000

  7. NR_167907.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL451000
    Related
    ENST00000686679.2

  8. NR_167908.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL451000

  9. NR_167909.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL451000
    Related
    ENST00000795854.1

  10. NR_167910.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL451000

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    23627334..23640568
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    23461911..23475166
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001348075.2: Suppressed sequence

    Description
    NM_001348075.2: This RefSeq was removed because it is now thought that this gene does not encode a protein.

  2. NM_148895.1: Suppressed sequence

    Description
    NM_148895.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NDY4.1 GenPept UniProtKB/Swiss-Prot:Q8NDY4

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials