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

Gene ID: 84677, updated on 14-Nov-2024

Summary

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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

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. The MMA1 gene family of cancer-testis antigens has multiple alternative splice variants: characterization of their expression profile, the genomic organization, and transcript properties. de Wit NJ, et al. Genes Chromosomes Cancer, 2005 Jan. PMID 15472897
  2. Comparative genomic sequence analysis of the human chromosome 21 Down syndrome critical region. Toyoda A, et al. Genome Res, 2002 Sep. PMID 12213769, Free PMC Article
  3. Expression profiling of MMA-1a and splice variant MMA-1b: new cancer/testis antigens identified in human melanoma. de Wit NJ, et al. Int J Cancer, 2002 Apr 1. PMID 11920614
  4. Long non-coding RNA DSCR8 acts as a molecular sponge for miR-485-5p to activate Wnt/β-catenin signal pathway in hepatocellular carcinoma. Wang Y, et al. Cell Death Dis, 2018 Aug 28. PMID 30154476, Free PMC Article
  5. Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome. Dahmane N, et al. Genomics, 1998 Feb 15. PMID 9503011

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. DSCR8 activates Wnt/beta-catenin signal pathway to promote HCC progression by DSCR8/miR-485-5p/FZD7 axis.
    Title: Long non-coding RNA DSCR8 acts as a molecular sponge for miR-485-5p to activate Wnt/β-catenin signal pathway in hepatocellular carcinoma.
  2. MMA1 and also MMA1C, -1D, and -1E are members of the cancer-testis antigen family.
    Title: The MMA1 gene family of cancer-testis antigens has multiple alternative splice variants: characterization of their expression profile, the genomic organization, and transcript properties.
Submit: New GeneRIF Correction

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 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 protein binding IPI
Inferred from Physical Interaction
more info
 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_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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96T75.2 GenPept UniProtKB/Swiss-Prot:Q96T75

Gene LinkOut

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