Human Gene DGCR8 (ENST00000383024.6) Description and Page Index
  Description: Homo sapiens DGCR8 microprocessor complex subunit (DGCR8), transcript variant 2, mRNA. (from RefSeq NM_001190326)
RefSeq Summary (NM_001190326): 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].
Gencode Transcript: ENST00000383024.6
Gencode Gene: ENSG00000128191.16
Transcript (Including UTRs)
   Position: hg38 chr22:20,080,232-20,111,875 Size: 31,644 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg38 chr22:20,085,964-20,110,108 Size: 24,145 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:20,080,232-20,111,875)mRNA (may differ from genome)Protein (740 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: DGCR8_HUMAN
DESCRIPTION: RecName: Full=Microprocessor complex subunit DGCR8; AltName: Full=DiGeorge syndrome critical region 8;
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. 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. Involved in the silencing of embryonic stem cells self- renewal.
COFACTOR: Binds 1 heme group per homodimer.
SUBUNIT: Monomer; in absence of heme. Homodimer; the association with heme promotes its dimerization. Component of the microprocessor complex, or pri-miRNA processing protein complex, which is composed of DGCR8 (heme-free or heme-bound forms) and DROSHA. The microprocessor complex may contain multiple subunit of DGCR8 and DROSHA. Interacts with ILF3, NCL and DROSHA.
INTERACTION: Q9NRR4:DROSHA; NbExp=4; IntAct=EBI-528411, EBI-528367;
SUBCELLULAR LOCATION: 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.
TISSUE SPECIFICITY: Ubiquitously expressed.
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.
SIMILARITY: Contains 2 DRBM (double-stranded RNA-binding) domains.
SIMILARITY: Contains 1 WW domain.
SEQUENCE CAUTION: Sequence=AAO86726.1; Type=Erroneous initiation; Sequence=BAB15165.1; Type=Erroneous initiation; Sequence=BAB15238.1; Type=Erroneous initiation;

-  MalaCards Disease Associations
  MalaCards Gene Search: DGCR8
Diseases sorted by gene-association score: digeorge syndrome (25), velocardiofacial syndrome (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 25.97 RPKM in Brain - Cerebellum
Total median expression: 438.10 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -177.20429-0.413 Picture PostScript Text
3' UTR -664.801767-0.376 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001159 - Ds-RNA-bd
IPR014720 - dsRNA-bd-like
IPR001202 - WW_Rsp5_WWP

Pfam Domains:
PF00035 - Double-stranded RNA binding motif

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1X47
- NMR MuPIT

2YT4
- X-ray MuPIT

3LE4
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q8WYQ5
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0003725 double-stranded RNA binding
GO:0005515 protein binding
GO:0020037 heme binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding
GO:0070878 primary miRNA binding
GO:0004525 ribonuclease III activity

Biological Process:
GO:0031053 primary miRNA processing
GO:0072091 regulation of stem cell proliferation
GO:0090501 RNA phosphodiester bond hydrolysis
GO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0014069 postsynaptic density
GO:0070877 microprocessor complex


-  Descriptions from all associated GenBank mRNAs
  AK313357 - Homo sapiens cDNA, FLJ93883, Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), mRNA.
BC037564 - Homo sapiens DiGeorge syndrome critical region gene 8, mRNA (cDNA clone IMAGE:4522303).
BC009984 - Homo sapiens DiGeorge syndrome critical region gene 8, mRNA (cDNA clone IMAGE:4125284), complete cds.
JD459934 - Sequence 440958 from Patent EP1572962.
JD515486 - Sequence 496510 from Patent EP1572962.
HZ409103 - JP 2015528002-A/1700: CHIRAL CONTROL.
LG052437 - KR 1020150036642-A/1703: CHIRAL CONTROL.
CS330175 - Sequence 26 from Patent WO2006063356.
HZ480265 - JP 2015535430-A/771: TERMINALLY MODIFIED RNA.
HZ790196 - JP 2016504050-A/1941: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
JC512928 - Sequence 3181 from Patent WO2014113089.
LF160105 - JP 2016513950-A/171: Oligomers with improved off-target profile.
LQ070516 - Sequence 840 from Patent EP2964234.
MA644017 - JP 2017113010-A/1941: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA731901 - JP 2017140048-A/771: TERMINALLY MODIFIED RNA.
BC071568 - Homo sapiens DiGeorge syndrome critical region gene 8, mRNA (cDNA clone IMAGE:30342289), with apparent retained intron.
BC078147 - Homo sapiens DiGeorge syndrome critical region gene 8, mRNA (cDNA clone MGC:87832 IMAGE:6014346), complete cds.
JD173810 - Sequence 154834 from Patent EP1572962.
JD409167 - Sequence 390191 from Patent EP1572962.
AF165527 - Homo sapiens DGCR8 (DGCR8) mRNA, complete cds.
CR456356 - Homo sapiens Em:AC006547.4 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.Em:AC006547.4.V3).
KJ904769 - Synthetic construct Homo sapiens clone ccsbBroadEn_14163 DGCR8 gene, encodes complete protein.
AB385562 - Synthetic construct DNA, clone: pF1KB8006, Homo sapiens DGCR8 gene for DiGeorge syndrome critical region gene 8, complete cds, without stop codon, in Flexi system.
CU013354 - Homo sapiens DGCR8, mRNA (cDNA clone IMAGE:100000229), complete cds, without stop codon, in Gateway system.
CU013066 - Homo sapiens DGCR8, mRNA (cDNA clone IMAGE:100000325), complete cds, with stop codon, in Gateway system.
HZ408925 - JP 2015528002-A/1522: CHIRAL CONTROL.
LG052259 - KR 1020150036642-A/1525: CHIRAL CONTROL.
HZ083271 - JP 2015513906-A/628: Stem Cell Microparticles.
HZ437052 - JP 2015529450-A/628: Stem Cell Microparticles.
HZ479771 - JP 2015535430-A/277: TERMINALLY MODIFIED RNA.
HZ789702 - JP 2016504050-A/1447: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
JC172256 - Sequence 628 from Patent WO2013150303.
JC512434 - Sequence 2687 from Patent WO2014113089.
JC573067 - Sequence 628 from Patent WO2014125276.
JC582755 - Sequence 628 from Patent WO2014125277.
JE954451 - Sequence 628 from Patent WO2015052526.
JE956204 - Sequence 628 from Patent WO2015052527.
LF137956 - JP 2016507550-A/628: Method of Producing Microparticles.
LF160009 - JP 2016513950-A/75: Oligomers with improved off-target profile.
LF162921 - JP 2016513095-A/628: Stem Cell Microparticles and miRNA.
LF632690 - WO 2016117582-A/119: miRNA biomarkers for mental disorders.
LF953673 - JP 2016534103-A/628: Stem Cell Microparticles and miRNA.
LG006018 - KR 1020150004822-A/628: STEM CELL MICROPARTICLES.
LG053714 - KR 1020150059168-A/628: STEM CELL MICROPARTICLES.
LG240953 - KR 1020160035087-A/628: STEM CELL MICROPARTICLES AND MIRNA.
LP896645 - Sequence 1509 from Patent EP3253886.
LQ070022 - Sequence 346 from Patent EP2964234.
LV471038 - JP 2016534036-A/628: Stem Cell Microparticles and miRNA.
MA643523 - JP 2017113010-A/1447: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA731407 - JP 2017140048-A/277: TERMINALLY MODIFIED RNA.
AK222796 - Homo sapiens mRNA for DiGeorge syndrome critical region gene 8 variant, clone: HEP03022.
AK025539 - Homo sapiens cDNA: FLJ21886 fis, clone HEP03022.
JD444099 - Sequence 425123 from Patent EP1572962.
JD287439 - Sequence 268463 from Patent EP1572962.
JD042753 - Sequence 23777 from Patent EP1572962.
JD062680 - Sequence 43704 from Patent EP1572962.
BC009323 - Homo sapiens DiGeorge syndrome critical region gene 8, mRNA (cDNA clone IMAGE:4123948), partial cds.
JD179895 - Sequence 160919 from Patent EP1572962.
BX649187 - Homo sapiens mRNA; cDNA DKFZp686C01252 (from clone DKFZp686C01252).
CU679299 - Synthetic construct Homo sapiens gateway clone IMAGE:100019644 5' read DGCR8 mRNA.
KJ902652 - Synthetic construct Homo sapiens clone ccsbBroadEn_12046 DGCR8 gene, encodes complete protein.
AY189282 - Homo sapiens LP4941 protein mRNA, complete cds.
AK025780 - Homo sapiens cDNA: FLJ22127 fis, clone HEP19530.
AK094381 - Homo sapiens cDNA FLJ37062 fis, clone BRACE2014821.
AK025427 - Homo sapiens cDNA: FLJ21774 fis, clone COLF7927.
JD024969 - Sequence 5993 from Patent EP1572962.
JD029707 - Sequence 10731 from Patent EP1572962.
JD481891 - Sequence 462915 from Patent EP1572962.
JD209557 - Sequence 190581 from Patent EP1572962.
JD539841 - Sequence 520865 from Patent EP1572962.
JD449582 - Sequence 430606 from Patent EP1572962.
JD192265 - Sequence 173289 from Patent EP1572962.
JD207939 - Sequence 188963 from Patent EP1572962.
JD382927 - Sequence 363951 from Patent EP1572962.
JD502099 - Sequence 483123 from Patent EP1572962.
JD559963 - Sequence 540987 from Patent EP1572962.
JD375299 - Sequence 356323 from Patent EP1572962.
JD296838 - Sequence 277862 from Patent EP1572962.
JD045822 - Sequence 26846 from Patent EP1572962.
JD507926 - Sequence 488950 from Patent EP1572962.
JD327398 - Sequence 308422 from Patent EP1572962.
JD225173 - Sequence 206197 from Patent EP1572962.
JD074806 - Sequence 55830 from Patent EP1572962.
JD230769 - Sequence 211793 from Patent EP1572962.
JD180752 - Sequence 161776 from Patent EP1572962.
JD303341 - Sequence 284365 from Patent EP1572962.
JD256160 - Sequence 237184 from Patent EP1572962.
JD383318 - Sequence 364342 from Patent EP1572962.
JD193166 - Sequence 174190 from Patent EP1572962.
JD431981 - Sequence 413005 from Patent EP1572962.
JD428071 - Sequence 409095 from Patent EP1572962.
JD317321 - Sequence 298345 from Patent EP1572962.
JD226228 - Sequence 207252 from Patent EP1572962.
JD044955 - Sequence 25979 from Patent EP1572962.
JD231186 - Sequence 212210 from Patent EP1572962.
JD483093 - Sequence 464117 from Patent EP1572962.
MA801070 - JP 2018183181-A/1941: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA800576 - JP 2018183181-A/1447: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MP129728 - Sequence 628 from Patent EP3470073.
MP162651 - Sequence 628 from Patent WO2019069093.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8WYQ5 (Reactome details) participates in the following event(s):

R-HSA-203893 Microprocessor complex cleaves pri-miRNA to pre-miRNA
R-HSA-203927 MicroRNA (miRNA) biogenesis
R-HSA-211000 Gene Silencing by RNA
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: B2R8G1, C22orf12, DGCR8_HUMAN, DGCRK6, LP4941, NM_001190326, Q6DCB2, Q6MZE9, Q6Y2L0, Q8WYQ5, Q96G39, Q96GP8, Q9H6L8, Q9H6T7, Q9NRW2, uc010grz.1, uc010grz.2, uc010grz.3, uc010grz.4
UCSC ID: uc010grz.4
RefSeq Accession: NM_001190326
Protein: Q8WYQ5 (aka DGCR8_HUMAN or DGR8_HUMAN)
CCDS: CCDS13773.1, CCDS54501.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.