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DSCR9 Down syndrome critical region 9 [ Homo sapiens (human) ]

Gene ID: 257203, updated on 7-Jan-2024

Summary

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Official Symbol
DSCR9provided by HGNC
Official Full Name
Down syndrome critical region 9provided by HGNC
Primary source
HGNC:HGNC:16301
See related
Ensembl:ENSG00000230366 AllianceGenome:HGNC:16301
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
NCRNA00038
Expression
Biased expression in testis (RPKM 2.8) and brain (RPKM 0.2) See more
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Genomic context

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Location:
21q22.13
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (37208503..37221736)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (35590724..35603961)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (38580804..38594037)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13296 Neighboring gene Sharpr-MPRA regulatory region 5899 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13298 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class P Neighboring gene tetratricopeptide repeat domain 3 Neighboring gene GFI1 motif-containing MPRA enhancer 103 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:38519638-38520138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18443 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:38567734-38568933 Neighboring gene TTC3 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:38579468-38580304 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18445 Neighboring gene RNA, 7SL, cytoplasmic 678, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18446 Neighboring gene VPS26 endosomal protein sorting factor C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18447 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:38629775-38630367 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:38630368-38630960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18449 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:38655347-38656273 Neighboring gene uncharacterized LOC124905018

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. Identify Down syndrome transcriptome associations using integrative analysis of microarray database and correlation-interaction network. Chen M, et al. Hum Genomics, 2018 Jan 19. PMID 29351810, Free PMC Article
  2. DSCR9/miR-21-5p axis inhibits pancreatic cancer proliferation and resistance to gemcitabine via BTG2 signaling. Huang H, et al. Acta Biochim Biophys Sin (Shanghai), 2022 Dec 25. PMID 36789695, Free PMC Article
  3. Identification of two novel primate-specific genes in DSCR. Takamatsu K, et al. DNA Res, 2002 Jun 30. PMID 12168953
  4. Digital quantification of human eye color highlights genetic association of three new loci. Liu F, et al. PLoS Genet, 2010 May 6. PMID 20463881, Free PMC Article
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. DSCR9/miR-21-5p axis inhibits pancreatic cancer proliferation and resistance to gemcitabine via BTG2 signaling.
    Title: DSCR9/miR-21-5p axis inhibits pancreatic cancer proliferation and resistance to gemcitabine via BTG2 signaling.
  2. DSCR9 was highly correlated with genes that were known as important factors in the developments and functions of nervous system, indicating that DSCR9 may regulate neurological proteins regarding Down syndrome and other neurological-related diseases
    Title: Identify Down syndrome transcriptome associations using integrative analysis of microarray database and correlation-interaction network.
  3. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Digital quantification of human eye color highlights genetic association of three new loci.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Digital quantification of human eye color highlights genetic association of three new loci.
EBI GWAS Catalog

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Other Names

  • Down syndrome critical region 9 (non-protein coding)
  • Down syndrome critical region gene 9 (non-protein coding)

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_026719.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AP001432, BC066653
    Related
    ENST00000454482.2

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_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    37208503..37221736
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    35590724..35603961
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_148675.3: Suppressed sequence

    Description
    NM_148675.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P59020.1 GenPept UniProtKB/Swiss-Prot:P59020

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Miscellaneous