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

Gene ID: 26220, updated on 12-Feb-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, Apr 2022]
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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Location:
22q11.21
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (18970468..19031242)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (19345862..19406582)
105.20220307 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
  • 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. Critical Functions of lncRNA DGCR5 in Cancers of the Digestive System. Hu C, et al. Curr Pharm Des, 2021. PMID 34387158
  3. LncRNA DiGeorge syndrome critical region gene 5: A crucial regulator in malignant tumors. Xia H, et al. Biomed Pharmacother, 2021 Sep. PMID 34323697
  4. Silencing lncRNA-DGCR5 increased trophoblast cell migration, invasion and tube formation, and inhibited cell apoptosis via targeting miR-454-3p/GADD45A axis. Yang Y, et al. Mol Cell Biochem, 2021 Sep. PMID 33973132
  5. LncRNA DGCR5 plays a tumor-suppressive role in glioma via the miR-21/Smad7 and miR-23a/PTEN axes. He Z, et al. Aging (Albany NY), 2020 Oct 21. PMID 33085646, Free PMC Article

See all (34) 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_2023_10

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

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Chemical Information
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Research Materials
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