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    DGCR5 DiGeorge syndrome critical region gene 5 [ Homo sapiens (human) ]

    Gene ID: 26220, updated on 2-Nov-2024

    Summary

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    Official Symbol
    DGCR5provided by HGNC
    Official Full Name
    DiGeorge syndrome critical region gene 5provided by HGNC
    Primary source
    HGNC:HGNC:16757
    See related
    Ensembl:ENSG00000273032 MIM:618040; AllianceGenome:HGNC:16757
    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
    RIP; DGCR9; DGS-A; DGS-B; DGCR10; LINC00037; POM121L5P; NCRNA00037
    Summary
    Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in brain (RPKM 4.8), adrenal (RPKM 1.0) and 5 other tissues See more
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    Genomic context

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    See DGCR5 in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (18970468..19031242)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (19345862..19406582)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (18957981..19018755)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene proline dehydrogenase 1 Neighboring gene uncharacterized LOC122455341 Neighboring gene human-specific endogenous retroviral insert PRODH enhancer Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18934751-18935496 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18945292-18945809 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:18957062-18957893 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:18985578-18985746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19005353-19005854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19007165-19007664 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13451 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19024185-19024805 Neighboring gene family with sequence similarity 246 member C (gene/pseudogene) Neighboring gene CA15 pseudogene 1 Neighboring gene DiGeorge syndrome critical region gene 2 Neighboring gene DiGeorge syndrome critical region gene 11

    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. LncRNA DGCR5 Silencing Enhances the Radio-Sensitivity of Human Esophageal Squamous Cell Carcinoma via Negatively Regulating the Warburg Effect. Wu J, et al. Radiat Res, 2023 Mar 1. PMID 36730936
    2. Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome. Sutherland HF, et al. Am J Hum Genet, 1996 Jul. PMID 8659529, Free PMC Article
    3. Regulation of neural macroRNAs by the transcriptional repressor REST. Johnson R, et al. RNA, 2009 Jan. PMID 19050060, Free PMC Article
    4. Down-Regulation of LncRNA DGCR5 Correlates with Poor Prognosis in Hepatocellular Carcinoma. Huang R, et al. Cell Physiol Biochem, 2016. PMID 27898409
    5. LINC00037 Inhibits Proliferation of Renal Cell Carcinoma Cells in an Epidermal Growth Factor Receptor-Dependent Way. Gong X, et al. Cell Physiol Biochem, 2018. PMID 29393141

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Abnormal expression of long non-coding RNAs RMRP, CTC-487M23.5, and DGCR5 in the peripheral blood of patients with Bipolar disorder.
      Title: Abnormal expression of long non-coding RNAs RMRP, CTC-487M23.5, and DGCR5 in the peripheral blood of patients with Bipolar disorder.
    2. LncRNA DGCR5 Silencing Enhances the Radio-Sensitivity of Human Esophageal Squamous Cell Carcinoma via Negatively Regulating the Warburg Effect.
      Title: LncRNA DGCR5 Silencing Enhances the Radio-Sensitivity of Human Esophageal Squamous Cell Carcinoma via Negatively Regulating the Warburg Effect.
    3. Critical Functions of lncRNA DGCR5 in Cancers of the Digestive System.
      Title: Critical Functions of lncRNA DGCR5 in Cancers of the Digestive System.
    4. DGCR5 is activated by PAX5 and promotes pancreatic cancer via targeting miR-3163/TOP2A and activating Wnt/beta-catenin pathway.
      Title: DGCR5 is activated by PAX5 and promotes pancreatic cancer via targeting miR-3163/TOP2A and activating Wnt/β-catenin pathway.
    5. LncRNA DiGeorge syndrome critical region gene 5: A crucial regulator in malignant tumors.
      Title: LncRNA DiGeorge syndrome critical region gene 5: A crucial regulator in malignant tumors.
    6. Long noncoding RNA DGCR5 involves in tumorigenesis of esophageal squamous cell carcinoma via SRSF1-mediated alternative splicing of Mcl-1.
      Title: Long noncoding RNA DGCR5 involves in tumorigenesis of esophageal squamous cell carcinoma via SRSF1-mediated alternative splicing of Mcl-1.
    7. Silencing lncRNA-DGCR5 increased trophoblast cell migration, invasion and tube formation, and inhibited cell apoptosis via targeting miR-454-3p/GADD45A axis.
      Title: Silencing lncRNA-DGCR5 increased trophoblast cell migration, invasion and tube formation, and inhibited cell apoptosis via targeting miR-454-3p/GADD45A axis.
    8. LncRNA DGCR5 plays a tumor-suppressive role in glioma via the miR-21/Smad7 and miR-23a/PTEN axes.
      Title: LncRNA DGCR5 plays a tumor-suppressive role in glioma via the miR-21/Smad7 and miR-23a/PTEN axes.
    9. Long non-coding RNA DGCR5 incudes tumorigenesis of triple-negative breast cancer by affecting Wnt/beta-catenin signaling pathway.
      Title: Long non-coding RNA DGCR5 incudes tumorigenesis of triple-negative breast cancer by affecting Wnt/β-catenin signaling pathway.
    10. DGCR5 suppresses the EMT of pediatric primary glioblastoma multiforme cell and serves as a prognostic biomarker.
      Title: DGCR5 suppresses the EMT of pediatric primary glioblastoma multiforme cell and serves as a prognostic biomarker.
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Human metabolic individuality in biomedical and pharmaceutical research.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Other Names

    • DiGeorge syndrome critical region gene 10 (non-protein coding)
    • DiGeorge syndrome critical region gene 5 (non-protein coding)
    • DiGeorge syndrome critical region gene 9 (non-protein coding)
    • DiGeorge syndrome gene A
    • DiGeorge syndrome gene B
    • Rac1 inactivated peptide
    • cadherin EGF LAG seven-pass G-type receptor 1 pseudogene
    • long intergenic non-protein coding RNA 37

    Clone Names

    • KIAA1647, MGC45713, AC000095.10, AC000095.11

    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_002733.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript.
      Source sequence(s)
      AC007326
      Related
      ENST00000421572.2

    2. NR_024159.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC000095, AC007326
      Related
      ENST00000675978.1

    3. NR_026651.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC000095, AC007326

    4. NR_045121.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate internal exon, resulting in a shorter transcript, compared to variant 1.
      Source sequence(s)
      AC007326

    5. NR_110533.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' exon structure, resulting in a shorter transcript, compared to variant 1.
      Source sequence(s)
      AC000095, AC007326
      Related
      ENST00000440005.6

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      18970468..19031242
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      19345862..19406582
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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

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