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    DSCR4 Down syndrome critical region 4 [ Homo sapiens (human) ]

    Gene ID: 10281, updated on 4-Jul-2015
    Official Symbol
    DSCR4provided by HGNC
    Official Full Name
    Down syndrome critical region 4provided by HGNC
    Primary source
    HGNC:HGNC:3045
    See related
    Ensembl:ENSG00000184029; HPRD:05318; MIM:604829; Vega:OTTHUMG00000086673
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DCRB; DSCRB
    Summary
    The gene is found in a region of chromosome 21 that has been linked to the pathogenesis of Down syndrome. This gene is transcribed from a bi-directional promoter located in an endogenous retrovirus. [provided by RefSeq, Jan 2015]
    See DSCR4 in Epigenomics, MapViewer
    Location:
    21q22.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 21 NC_000021.9 (38006553..38121360, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (39426313..39493454, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene potassium channel, inwardly rectifying subfamily J, member 6 Neighboring gene uncharacterized LOC105372799 Neighboring gene uncharacterized LOC101928368 Neighboring gene Down syndrome critical region 8 Neighboring gene cutaneous T-cell lymphoma-associated antigen 1 pseudogene

    Markers

    Clone Names

    • AP001415.1

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    molecular_function ND
    No biological Data available
    more info
     
    Process Evidence Code Pubs
    biological_process ND
    No biological Data available
    more info
     
    Component Evidence Code Pubs
    cellular_component ND
    No biological Data available
    more info
     
    Preferred Names
    Down syndrome critical region protein 4
    Names
    Down syndrome critical region gene 4
    Down syndrome critical region protein B

    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.

    mRNA and Protein(s)

    1. NM_005867.3NP_005858.1  Down syndrome critical region protein 4

      See identical proteins and their annotated locations for NP_005858.1

      Status: REVIEWED

      Source sequence(s)
      AB000099, AP001410, BU753721
      Consensus CDS
      CCDS33554.1
      UniProtKB/Swiss-Prot
      P56555
      Related
      ENSP00000328676, OTTHUMP00000109104, ENST00000328264, OTTHUMT00000194834

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p2 Primary Assembly

      Range
      38006553..38121360
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011529421.1XP_011527723.1  

    2. XM_011529420.1XP_011527722.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018932.2 Alternate CHM1_1.1

      Range
      38987663..39054402
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)