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Aliases for DGCR8 Gene

Aliases for DGCR8 Gene

  • DGCR8 Microprocessor Complex Subunit 2 3 5
  • DiGeorge Syndrome Critical Region Gene 8 2 3
  • DiGeorge Syndrome Critical Region 8 3 4
  • C22orf12 3 4
  • DGCRK6 3 4
  • Chromosome 22 Open Reading Frame 12 2
  • Pasha 3
  • Gy1 3

External Ids for DGCR8 Gene

Previous HGNC Symbols for DGCR8 Gene

  • C22orf12

Previous GeneCards Identifiers for DGCR8 Gene

  • GC22P017008
  • GC22P018443
  • GC22P018444
  • GC22P018445
  • GC22P018446
  • GC22P020070
  • GC22P003688

Summaries for DGCR8 Gene

Entrez Gene Summary for DGCR8 Gene

  • 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]

GeneCards Summary for DGCR8 Gene

DGCR8 (DGCR8 Microprocessor Complex Subunit) is a Protein Coding gene. Diseases associated with DGCR8 include digeorge syndrome and t cell deficiency. Among its related pathways are Gene Expression and Mitotic Prophase. GO annotations related to this gene include protein homodimerization activity and double-stranded RNA binding.

UniProtKB/Swiss-Prot for DGCR8 Gene

  • Component of the microprocessor complex that acts as a RNA- and heme-binding protein that is involved in the initial step of microRNA (miRNA) biogenesis. Component of the microprocessor complex that is required to process primary miRNA transcripts (pri-miRNAs) to release precursor miRNA (pre-miRNA) in the nucleus. Within the microprocessor complex, DGCR8 function as a molecular anchor necessary for the recognition of pri-miRNA at dsRNA-ssRNA junction and directs DROSHA to cleave 11 bp away form the junction to release hairpin-shaped pre-miRNAs that are subsequently cut by the cytoplasmic DICER to generate mature miRNAs (PubMed:26027739, PubMed:26748718). The heme-bound DGCR8 dimer binds pri-miRNAs as a cooperative trimer (of dimers) and is active in triggering pri-miRNA cleavage, whereas the heme-free DGCR8 monomer binds pri-miRNAs as a dimer and is much less active. Both double-stranded and single-stranded regions of a pri-miRNA are required for its binding (PubMed:15531877, PubMed:15574589, PubMed:15589161, PubMed:16751099, PubMed:16906129, PubMed:16963499, PubMed:17159994). Specifically recognizes and binds N6-methyladenosine (m6A)-containing pri-miRNAs, a modification required for pri-miRNAs processing (PubMed:25799998). Involved in the silencing of embryonic stem cell self-renewal (By similarity).

Gene Wiki entry for DGCR8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DGCR8 Gene

Genomics for DGCR8 Gene

Regulatory Elements for DGCR8 Gene

Promoters for DGCR8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DGCR8 on UCSC Golden Path with GeneCards custom track

Genomic Location for DGCR8 Gene

Chromosome:
22
Start:
20,080,232 bp from pter
End:
20,111,877 bp from pter
Size:
31,646 bases
Orientation:
Plus strand

Genomic View for DGCR8 Gene

Genes around DGCR8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DGCR8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DGCR8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DGCR8 Gene

Proteins for DGCR8 Gene

  • Protein details for DGCR8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WYQ5-DGCR8_HUMAN
    Recommended name:
    Microprocessor complex subunit DGCR8
    Protein Accession:
    Q8WYQ5
    Secondary Accessions:
    • B2R8G1
    • Q6DCB2
    • Q6MZE9
    • Q6Y2L0
    • Q96G39
    • Q96GP8
    • Q9H6L8
    • Q9H6T7
    • Q9NRW2

    Protein attributes for DGCR8 Gene

    Size:
    773 amino acids
    Molecular mass:
    86045 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    • Monomer; in absence of heme. Homodimer; the association with heme promotes its dimerization (PubMed:17159994). Component of the microprocessor complex, or pri-miRNA processing protein complex, which is composed of DROSHA and DGCR8 (PubMed:15589161, PubMed:15574589, PubMed:15531877, PubMed:16751099, PubMed:19135890, PubMed:26027739, PubMed:26748718). The microprocessor complex is a heterotrimer; each of the two DROSHA RNase III domains binds one DGCR8 (via C-terminal region) (PubMed:26027739, PubMed:26748718). Interacts with ILF3, NCL and DROSHA (PubMed:17765891).
    SequenceCaution:
    • Sequence=AAO86726.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15165.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15238.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DGCR8 Gene

    Alternative splice isoforms for DGCR8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DGCR8 Gene

Proteomics data for DGCR8 Gene at MOPED

Post-translational modifications for DGCR8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DGCR8 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DGCR8 (DGCR8)

No data available for DME Specific Peptides for DGCR8 Gene

Domains & Families for DGCR8 Gene

Protein Domains for DGCR8 Gene

Suggested Antigen Peptide Sequences for DGCR8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WYQ5

UniProtKB/Swiss-Prot:

DGCR8_HUMAN :
  • Both DRBM domains are required for efficient binding to pri-miRNA. The region between residues 276 and 498 has an autoinhibitory function on pri-miRNA processing activity.
Domain:
  • Both DRBM domains are required for efficient binding to pri-miRNA. The region between residues 276 and 498 has an autoinhibitory function on pri-miRNA processing activity.
  • Contains 2 DRBM (double-stranded RNA-binding) domains.
  • Contains 1 WW domain.
genes like me logo Genes that share domains with DGCR8: view

No data available for Gene Families for DGCR8 Gene

Function for DGCR8 Gene

Molecular function for DGCR8 Gene

UniProtKB/Swiss-Prot Function:
Component of the microprocessor complex that acts as a RNA- and heme-binding protein that is involved in the initial step of microRNA (miRNA) biogenesis. Component of the microprocessor complex that is required to process primary miRNA transcripts (pri-miRNAs) to release precursor miRNA (pre-miRNA) in the nucleus. Within the microprocessor complex, DGCR8 function as a molecular anchor necessary for the recognition of pri-miRNA at dsRNA-ssRNA junction and directs DROSHA to cleave 11 bp away form the junction to release hairpin-shaped pre-miRNAs that are subsequently cut by the cytoplasmic DICER to generate mature miRNAs (PubMed:26027739, PubMed:26748718). The heme-bound DGCR8 dimer binds pri-miRNAs as a cooperative trimer (of dimers) and is active in triggering pri-miRNA cleavage, whereas the heme-free DGCR8 monomer binds pri-miRNAs as a dimer and is much less active. Both double-stranded and single-stranded regions of a pri-miRNA are required for its binding (PubMed:15531877, PubMed:15574589, PubMed:15589161, PubMed:16751099, PubMed:16906129, PubMed:16963499, PubMed:17159994). Specifically recognizes and binds N6-methyladenosine (m6A)-containing pri-miRNAs, a modification required for pri-miRNAs processing (PubMed:25799998). Involved in the silencing of embryonic stem cell self-renewal (By similarity).

Gene Ontology (GO) - Molecular Function for DGCR8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004525 contributes_to ribonuclease III activity IDA 15574589
GO:0020037 heme binding IDA 24449907
GO:0042803 protein homodimerization activity IDA 15574589
GO:0070878 primary miRNA binding IDA 24910438
genes like me logo Genes that share ontologies with DGCR8: view
genes like me logo Genes that share phenotypes with DGCR8: view

Animal Models for DGCR8 Gene

MGI Knock Outs for DGCR8:

Animal Model Products

CRISPR Products

miRNA for DGCR8 Gene

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DGCR8 Gene

Localization for DGCR8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DGCR8 Gene

Nucleus. Nucleus, nucleolus. Note=Colocalizes with nucleolin and DROSHA in the nucleolus. Mostly detected in the nucleolus as electron-dense granular patches around the fibrillar center (FC) and granular component (GC). Also detected in the nucleoplasm as small foci adjacent to splicing speckles near the chromatin structure. Localized with DROSHA in GW bodies (GWBs), also known as P-bodies (PubMed:17159994).

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DGCR8 Gene COMPARTMENTS Subcellular localization image for DGCR8 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for DGCR8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with DGCR8: view

Pathways & Interactions for DGCR8 Gene

genes like me logo Genes that share pathways with DGCR8: view

Pathways by source for DGCR8 Gene

1 BioSystems pathway for DGCR8 Gene

Gene Ontology (GO) - Biological Process for DGCR8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010467 gene expression TAS --
GO:0031047 gene silencing by RNA TAS --
genes like me logo Genes that share ontologies with DGCR8: view

No data available for SIGNOR curated interactions for DGCR8 Gene

Drugs & Compounds for DGCR8 Gene

No Compound Related Data Available

Transcripts for DGCR8 Gene

Unigene Clusters for DGCR8 Gene

DiGeorge syndrome critical region gene 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DGCR8 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c · 11d ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b · 14c
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - -
SP4: - - - - -
SP5: -
SP6: -
SP7: - -
SP8:

Relevant External Links for DGCR8 Gene

GeneLoc Exon Structure for
DGCR8
ECgene alternative splicing isoforms for
DGCR8

Expression for DGCR8 Gene

mRNA expression in normal human tissues for DGCR8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DGCR8 Gene

This gene is overexpressed in Heart (27.0), Adrenal (24.8), and Placenta (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DGCR8 Gene



SOURCE GeneReport for Unigene cluster for DGCR8 Gene Hs.643452

mRNA Expression by UniProt/SwissProt for DGCR8 Gene

Q8WYQ5-DGCR8_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with DGCR8: view

Protein tissue co-expression partners for DGCR8 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for DGCR8 Gene

Orthologs for DGCR8 Gene

This gene was present in the common ancestor of animals.

Orthologs for DGCR8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ptr-mir-1306 36
  • 100 (a)
OneToOne
DGCR8 35
  • 99.74 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia DGCR8 35
  • 87.24 (n)
  • 92.24 (a)
bta-mir-1306 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia cfa-mir-1306 36
  • 96 (a)
OneToOne
DGCR8 35
  • 92.41 (n)
  • 96.38 (a)
mouse
(Mus musculus)
Mammalia Dgcr8 36
  • 95 (a)
OneToOne
Dgcr8 16
Dgcr8 35
  • 90.56 (n)
  • 95.34 (a)
oppossum
(Monodelphis domestica)
Mammalia DGCR8 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DGCR8 36
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dgcr8 35
  • 90.51 (n)
  • 94.57 (a)
chicken
(Gallus gallus)
Aves DGCR8 35
  • 79.06 (n)
  • 84.7 (a)
gga-mir-1306 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia aca-mir-5417 36
  • 82 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.19878 35
tropical clawed frog
(Silurana tropicalis)
Amphibia dgcr8 35
  • 72.87 (n)
  • 78.28 (a)
Str.18110 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7506 35
zebrafish
(Danio rerio)
Actinopterygii dgcr8 36
  • 70 (a)
OneToOne
dgcr8 35
  • 71.08 (n)
  • 74.83 (a)
wufc23f08 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002554 35
  • 53.07 (n)
  • 45.02 (a)
fruit fly
(Drosophila melanogaster)
Insecta pasha 36
  • 36 (a)
OneToOne
pasha 35
  • 49.94 (n)
  • 41.35 (a)
worm
(Caenorhabditis elegans)
Secernentea pash-1 36
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToOne
Species with no ortholog for DGCR8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DGCR8 Gene

ENSEMBL:
Gene Tree for DGCR8 (if available)
TreeFam:
Gene Tree for DGCR8 (if available)

Paralogs for DGCR8 Gene

(1) SIMAP similar genes for DGCR8 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with DGCR8: view

No data available for Paralogs for DGCR8 Gene

Variants for DGCR8 Gene

Sequence variations from dbSNP and Humsavar for DGCR8 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs695417 -- 20,097,832(+) TTTTT(-/T)AATTA intron-variant
rs174890 -- 20,098,156(+) aaaaa(A/T)ATATA intron-variant
rs174891 -- 20,102,228(+) ttctt(C/T)gttgg intron-variant
rs992361 -- 20,095,836(+) atggt(C/T)ccctc intron-variant
rs1008101 -- 20,082,831(+) gttaa(A/G)atgct intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DGCR8 Gene

Variant ID Type Subtype PubMed ID
nsv435744 CNV Deletion 17901297
nsv828938 CNV Gain 20364138
nsv828939 CNV Loss 20364138
dgv72n68 CNV Loss 17160897
nsv914327 CNV Loss 21882294
nsv914330 CNV Gain 21882294
nsv471183 CNV Loss 18288195
nsv834133 CNV Loss 17160897
dgv1387e1 CNV Complex 17122850
nsv521042 CNV Loss 19592680
dgv726n67 CNV Gain 20364138
dgv4855n71 CNV Loss 21882294
dgv4856n71 CNV Loss 21882294
dgv4857n71 CNV Loss 21882294
dgv4858n71 CNV Loss 21882294
dgv4859n71 CNV Loss 21882294
dgv4860n71 CNV Loss 21882294
nsv914347 CNV Loss 21882294

Variation tolerance for DGCR8 Gene

Residual Variation Intolerance Score: 15.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.44; 54.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DGCR8 Gene

HapMap Linkage Disequilibrium report
DGCR8
Human Gene Mutation Database (HGMD)
DGCR8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DGCR8 Gene

Disorders for DGCR8 Gene

MalaCards: The human disease database

(3) MalaCards diseases for DGCR8 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
digeorge syndrome
  • digeorge sequence
t cell deficiency
  • t-lymphocyte deficiency
velocardiofacial syndrome
  • 22q11 deletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search DGCR8 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DGCR8

Genetic Association Database (GAD)
DGCR8
Human Genome Epidemiology (HuGE) Navigator
DGCR8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DGCR8
genes like me logo Genes that share disorders with DGCR8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DGCR8 Gene

Publications for DGCR8 Gene

  1. Posttranscriptional crossregulation between Drosha and DGCR8. (PMID: 19135890) Han J. … Kim V.N. (Cell 2009) 3 4 23 67
  2. DiGeorge critical region 8 (DGCR8) is a double-cysteine-ligated heme protein. (PMID: 21454614) Barr I. … Guo F. (J. Biol. Chem. 2011) 2 3
  3. Single nucleotide polymorphisms of microRNA machinery genes modify the risk of renal cell carcinoma. (PMID: 19047128) Horikawa Y. … Wu X. (Clin. Cancer Res. 2008) 3 23
  4. The microprocessor complex mediates the genesis of microRNAs. (PMID: 15531877) Gregory R.I. … Shiekhattar R. (Nature 2004) 3 23
  5. Molecular cloning and expression analysis of a novel gene DGCR8 located in the DiGeorge syndrome chromosomal region. (PMID: 12705904) Shiohama A. … Shimizu N. (Biochem. Biophys. Res. Commun. 2003) 3 23

Products for DGCR8 Gene

Sources for DGCR8 Gene

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