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

Summary

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: mouse all
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Genomic context

Location:: 22q11.21

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (20080241..20111872)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (20459152..20490922)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (20067764..20099395)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Prevalence, Molecular Landscape, and Clinical Impact of DICER1 and DGCR8 Mutated Follicular-Patterned Thyroid Nodules.
Title: Prevalence, Molecular Landscape, and Clinical Impact of DICER1 and DGCR8 Mutated Follicular-Patterned Thyroid Nodules.
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.
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.
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.
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.
Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes.
Title: Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes.
Coilin enhances phosphorylation and stability of DGCR8 and promotes miRNA biogenesis.
Title: Coilin enhances phosphorylation and stability of DGCR8 and promotes miRNA biogenesis.
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.
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.
Molecular determinants that govern scaRNA processing by Drosha/DGCR8.
Title: Molecular determinants that govern scaRNA processing by Drosha/DGCR8.

Submit: New GeneRIF Correction See all GeneRIFs (83)

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	Compare labs

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

RH103470 (e-PCR)
- UniSTS:97795

G43633 (e-PCR)
- UniSTS:95062

RH76352 (e-PCR)
- UniSTS:84690

RH120767 (e-PCR)
- UniSTS:132847

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

NG_022931.2 RefSeqGene

Range

5010..36641

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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