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    DSCR8 Down syndrome critical region 8 [ Homo sapiens (human) ]

    Gene ID: 84677, updated on 19-Sep-2024

    Summary

    Official Symbol
    DSCR8provided by HGNC
    Official Full Name
    Down syndrome critical region 8provided by HGNC
    Primary source
    HGNC:HGNC:16707
    See related
    Ensembl:ENSG00000198054 MIM:613396; AllianceGenome:HGNC:16707
    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
    MMA1; MMA-1; MTAG2; MMA-1a; MMA-1b; CT25.1a; CT25.1b; C21orf65
    Expression
    Restricted expression toward testis (RPKM 8.9) See more
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    Genomic context

    See DSCR8 in Genome Data Viewer
    Location:
    21q22.13
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (38121451..38156511)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (36505350..36540417)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (39493545..39528605)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene potassium inwardly rectifying channel subfamily J member 6 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 Down syndrome critical region 4 Neighboring gene uncharacterized LOC124905020 Neighboring gene Sharpr-MPRA regulatory region 8394 Neighboring gene small nucleolar RNA U13

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Other Names

    • Down syndrome critical region 8 (non-protein coding)
    • Down syndrome critical region gene 8
    • cancer/testis antigen family 25, member 1a
    • cancer/testis antigen family 25, member 1b
    • malignant melanoma associated protein 1
    • malignant melanoma-associated 1
    • melanoma-testis-associated protein 2

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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)

    NEW Try the new Transcript table

    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_026838.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) represents the longest transcript.
      Source sequence(s)
      AJ783421, BC029353, BG189423
      Related
      ENST00000465532.5
    2. NR_026839.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon, compared to variant 4.
      Source sequence(s)
      AJ305085, BC029353, BG189423
      Related
      ENST00000478613.5
    3. NR_026840.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses two alternate splice sites, compared to variant 4.
      Source sequence(s)
      AJ306839, BC029353, BG189423
      Related
      ENST00000357704.8
    4. NR_026841.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) uses an alternate splice site, compared to variant 4.
      Source sequence(s)
      AJ297914, BC029353, BG189423
      Related
      ENST00000400477.7
    5. NR_026842.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site and lacks an exon, compared to variant 4.
      Source sequence(s)
      BC015981, BC029353, BG189423
      Related
      ENST00000469658.5

    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
      38121451..38156511
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      36505350..36540417
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_032589.2: Suppressed sequence

      Description
      NM_032589.2: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    2. NM_203428.1: Suppressed sequence

      Description
      NM_203428.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    3. NM_203429.1: Suppressed sequence

      Description
      NM_203429.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.