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DGCR8 DGCR8 microprocessor complex subunit [ Homo sapiens (human) ]

Gene ID: 54487, updated on 11-Apr-2024

Summary

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Official Symbol
DGCR8provided by HGNC
Official Full Name
DGCR8 microprocessor complex subunitprovided by HGNC
Primary source
HGNC:HGNC:2847
See related
Ensembl:ENSG00000128191 MIM:609030; AllianceGenome:HGNC:2847
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Gy1; pasha; DGCRK6; C22orf12
Summary
This gene encodes a subunit of the microprocessor complex which mediates the biogenesis of microRNAs from the primary microRNA transcript. The encoded protein is a double-stranded RNA binding protein that functions as the non-catalytic subunit of the microprocessor complex. This protein is required for binding the double-stranded RNA substrate and facilitates cleavage of the RNA by the ribonuclease III protein, Drosha. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
Expression
Ubiquitous expression in testis (RPKM 13.8), placenta (RPKM 10.2) and 25 other tissues See more
Orthologs
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Genomic context

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See DGCR8 in Genome Data Viewer
Location:
22q11.21
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (20080241..20111872)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (20459152..20490922)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (20067764..20099395)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ARVCF delta catenin family member Neighboring gene uncharacterized LOC124905082 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:19998201-19999025 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13471 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13472 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18667 Neighboring gene transport and golgi organization 2 homolog Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20018676-20019372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18669 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:20026069-20026230 Neighboring gene microRNA 185 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20045081-20045581 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20053631-20054131 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18670 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:20070687-20071305 Neighboring gene microRNA 3618 Neighboring gene microRNA 1306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20099501-20100000 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13474 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13475 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13476 Neighboring gene tRNA methyltransferase 2 homolog A Neighboring gene microRNA 6816 Neighboring gene RAN binding protein 1 Neighboring gene small nucleolar RNA, H/ACA box 77B

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. Partial Disturbance of Microprocessor Function in Human Stem Cells Carrying a Heterozygous Mutation in the DGCR8 Gene. Reé D, et al. Genes (Basel), 2022 Oct 23. PMID 36360162, Free PMC Article
  2. The orf virus (ORFV) protein OV20.0 interacts with the microprocessor complex subunit DGCR8 to regulate miRNA biogenesis and ORFV infection. Liao GR, et al. FEBS Lett, 2021 Dec. PMID 34778960
  3. Whole-genome Sequencing of Follicular Thyroid Carcinomas Reveal Recurrent Mutations in MicroRNA Processing Subunit DGCR8. Paulsson JO, et al. J Clin Endocrinol Metab, 2021 Oct 21. PMID 34171097, Free PMC Article
  4. DGCR8 promotes the metastasis in triple-negative breast cancer by epigenetically regulating TGF-β. Cui CY, et al. Eur Rev Med Pharmacol Sci, 2020 Mar. PMID 32196606
  5. DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis. Rivera B, et al. J Clin Invest, 2020 Mar 2. PMID 31805011, Free PMC Article

See all (136) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The Ubiquitin-specific Protease USP36 Associates with the Microprocessor Complex and Regulates miRNA Biogenesis by SUMOylating DGCR8.
    Title: The Ubiquitin-specific Protease USP36 Associates with the Microprocessor Complex and Regulates miRNA Biogenesis by SUMOylating DGCR8.
  2. Splice site m[6]A methylation prevents binding of DGCR8 to suppress KRT4 pre-mRNA splicing in oral squamous cell carcinoma.
    Title: Splice site m(6)A methylation prevents binding of DGCR8 to suppress KRT4 pre-mRNA splicing in oral squamous cell carcinoma.
  3. METTL3 contributes to slow transit constipation by regulating miR-30b-5p/PIK3R2/Akt/mTOR signaling cascade through DGCR8.
    Title: METTL3 contributes to slow transit constipation by regulating miR-30b-5p/PIK3R2/Akt/mTOR signaling cascade through DGCR8.
  4. Partial Disturbance of Microprocessor Function in Human Stem Cells Carrying a Heterozygous Mutation in the DGCR8 Gene.
    Title: Partial Disturbance of Microprocessor Function in Human Stem Cells Carrying a Heterozygous Mutation in the DGCR8 Gene.
  5. Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes.
    Title: Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes.
  6. Coilin enhances phosphorylation and stability of DGCR8 and promotes miRNA biogenesis.
    Title: Coilin enhances phosphorylation and stability of DGCR8 and promotes miRNA biogenesis.
  7. The orf virus (ORFV) protein OV20.0 interacts with the microprocessor complex subunit DGCR8 to regulate miRNA biogenesis and ORFV infection.
    Title: The orf virus (ORFV) protein OV20.0 interacts with the microprocessor complex subunit DGCR8 to regulate miRNA biogenesis and ORFV infection.
  8. Whole-genome Sequencing of Follicular Thyroid Carcinomas Reveal Recurrent Mutations in MicroRNA Processing Subunit DGCR8.
    Title: Whole-genome Sequencing of Follicular Thyroid Carcinomas Reveal Recurrent Mutations in MicroRNA Processing Subunit DGCR8.
  9. Molecular determinants that govern scaRNA processing by Drosha/DGCR8.
    Title: Molecular determinants that govern scaRNA processing by Drosha/DGCR8.
  10. DGCR8-dependent efficient pri-miRNA processing of human pri-miR-9-2.
    Title: DGCR8-dependent efficient pri-miRNA processing of human pri-miR-9-2.
Submit: New GeneRIF Correction See all GeneRIFs (82)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Velocardiofacial syndrome
MedGen: C0220704 OMIM: 192430 GeneReviews: 22q11.2 Deletion Syndrome
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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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables double-stranded RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables double-stranded RNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables heme binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables primary miRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables primary miRNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein-RNA adaptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein-macromolecule adaptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA damage response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of pre-miRNA processing IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in primary miRNA processing IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within primary miRNA processing IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in primary miRNA processing IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of stem cell proliferation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
part_of microprocessor complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of microprocessor complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of microprocessor complex IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in nuclear body IDA
Inferred from Direct Assay
more info
  
located_in nucleolus IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in postsynaptic density IEA
Inferred from Electronic Annotation
more info
  
is_active_in site of double-strand break IC
Inferred by Curator
more info
 PubMed 

General protein information

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Preferred Names
microprocessor complex subunit DGCR8
Names
DiGeorge syndrome critical region 8
DiGeorge syndrome critical region gene 8

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.

Genomic

  1. NG_022931.2 RefSeqGene

    Range
    5010..36641
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001190326.2 → NP_001177255.1  microprocessor complex subunit DGCR8 isoform 2

    See identical proteins and their annotated locations for NP_001177255.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    BC078147, DA433651
    Consensus CDS
    CCDS54501.1
    UniProtKB/Swiss-Prot
    Q8WYQ5
    Related
    ENSP00000384726.1, ENST00000407755.2
    Conserved Domains (2) summary
    smart00456
    Location:302 → 332
    WW; Domain with 2 conserved Trp (W) residues
    pfam00035
    Location:587 → 651
    dsrm; Double-stranded RNA binding motif

  2. NM_022720.7 → NP_073557.3  microprocessor complex subunit DGCR8 isoform 1

    See identical proteins and their annotated locations for NP_073557.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC006547, BC037564, BQ001948, DA433651
    Consensus CDS
    CCDS13773.1
    UniProtKB/Swiss-Prot
    B2R8G1, Q6DCB2, Q6MZE9, Q6Y2L0, Q8WYQ5, Q96G39, Q96GP8, Q9H6L8, Q9H6T7, Q9NRW2
    Related
    ENSP00000263209.3, ENST00000351989.8
    Conserved Domains (3) summary
    smart00456
    Location:302 → 332
    WW; Domain with 2 conserved Trp (W) residues
    cd19867
    Location:505 → 578
    DSRM_DGCR8_rpt1; first double-stranded RNA binding motif of DiGeorge syndrome critical region 8 (DGCR8) and similar proteins
    cd19868
    Location:618 → 686
    DSRM_DGCR8_rpt2; second double-stranded RNA binding motif of DiGeorge syndrome critical region 8 (DGCR8) and similar proteins

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
    20080241..20111872
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047441419.1 → XP_047297375.1  microprocessor complex subunit DGCR8 isoform X1

    UniProtKB/Swiss-Prot
    B2R8G1, Q6DCB2, Q6MZE9, Q6Y2L0, Q8WYQ5, Q96G39, Q96GP8, Q9H6L8, Q9H6T7, Q9NRW2
    Related
    ENSP00000409625.2, ENST00000457069.2

  2. XM_047441418.1 → XP_047297374.1  microprocessor complex subunit DGCR8 isoform X1

    UniProtKB/Swiss-Prot
    B2R8G1, Q6DCB2, Q6MZE9, Q6Y2L0, Q8WYQ5, Q96G39, Q96GP8, Q9H6L8, Q9H6T7, Q9NRW2

  3. XM_006724268.4 → XP_006724331.1  microprocessor complex subunit DGCR8 isoform X2

    Related
    ENST00000498171.5
    Conserved Domains (1) summary
    pfam00035
    Location:156 → 219
    dsrm; Double-stranded RNA binding motif

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    20459152..20490922
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054325735.1 → XP_054181710.1  microprocessor complex subunit DGCR8 isoform X1

    UniProtKB/Swiss-Prot
    B2R8G1, Q6DCB2, Q6MZE9, Q6Y2L0, Q8WYQ5, Q96G39, Q96GP8, Q9H6L8, Q9H6T7, Q9NRW2

  2. XM_054325734.1 → XP_054181709.1  microprocessor complex subunit DGCR8 isoform X1

    UniProtKB/Swiss-Prot
    B2R8G1, Q6DCB2, Q6MZE9, Q6Y2L0, Q8WYQ5, Q96G39, Q96GP8, Q9H6L8, Q9H6T7, Q9NRW2

  3. XM_054325736.1 → XP_054181711.1  microprocessor complex subunit DGCR8 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WYQ5.1 GenPept UniProtKB/Swiss-Prot:Q8WYQ5

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