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

    Gene ID: 259283, updated on 5-Mar-2024

    Summary

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    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, Apr 2022]
    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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    Genomic context

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    See MDS2 in Genome Data Viewer
    Location:
    1p36.11
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (23627334..23640568)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (23461911..23475166)
    105.20220307 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

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    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

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Markers

    Homology

    Other Names

    • myelodysplastic syndrome 2 translocation-associated protein

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in extracellular space HDA PubMed 

    NCBI Reference Sequences (RefSeq)

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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
      ENST00000686180.1

    3. NR_167903.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL451000

    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
      ENST00000686679.1

    8. NR_167908.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL451000

    9. NR_167909.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL451000

    10. NR_167910.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL451000

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
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    Research Materials