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

    Gene ID: 10281, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DSCR4provided by HGNC
    Official Full Name
    Down syndrome critical region 4provided by HGNC
    Primary source
    HGNC:HGNC:3045
    See related
    Ensembl:ENSG00000184029 MIM:604829; AllianceGenome:HGNC:3045
    Gene type
    ncRNA
    RefSeq status
    VALIDATED
    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]
    Expression
    Low expression observed in reference dataset See more
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    Genomic context

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    See DSCR4 in Genome Data Viewer
    Location:
    21q22.13
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (38054011..38121360, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (36437553..36505259, complement)
    RS_2024_09 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 KCNJ6 antisense RNA 1 Neighboring gene uncharacterized LOC105372798 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13308 Neighboring gene Sharpr-MPRA regulatory region 302 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr21:38960011-38960798 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:38964609-38965446 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:38965447-38966286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:39020347-39020847 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:39039721-39040443 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:39040444-39041167 Neighboring gene potassium inwardly rectifying channel subfamily J member 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:39047357-39048256 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:39054697-39055209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13309 Neighboring gene uncharacterized LOC101928368 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:39127657-39128504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:39200662-39201384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:39201385-39202107 Neighboring gene VISTA enhancer hs1811 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:39261680-39261872 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:39345582-39346781 Neighboring gene uncharacterized LOC124905020 Neighboring gene Down syndrome critical region 8

    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. Emergence and Evolution of Hominidae-Specific Coding and Noncoding Genomic Sequences. Saber MM, et al. Genome Biol Evol, 2016 Jul 12. PMID 27289096, Free PMC Article
    2. Hypomethylated DSCR4 is a placenta-derived epigenetic marker for trisomy 21. Du Y, et al. Prenat Diagn, 2011 Feb. PMID 21268042
    3. Analysis of the promoter region of human placenta-specific DSCR4 gene. Asai S, et al. Biochim Biophys Acta, 2008 Jan. PMID 18086574
    4. A novel gene isolated from human placenta located in Down syndrome critical region on chromosome 21. Nakamura A, et al. DNA Res, 1997 Oct 31. PMID 9455479
    5. Transcription of two human genes from a bidirectional endogenous retrovirus promoter. Dunn CA, et al. Gene, 2006 Feb 1. PMID 16288839

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Other Names

    • Down syndrome critical region gene 4
    • Down syndrome critical region protein 4
    • Down syndrome critical region protein B

    Clone Names

    • AP001415.1

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    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_147130.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP001410, AP001417, BU753721
      Related
      ENST00000328264.7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      38054011..38121360 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      36437553..36505259 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_005867.3: Suppressed sequence

      Description
      NM_005867.3: This RefSeq was removed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P56555.1 GenPept UniProtKB/Swiss-Prot:P56555

    Gene LinkOut

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

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