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DGCR8 Gene

protein-coding   GIFtS: 58
GCID: GC22P020070

DGCR8 Microprocessor Complex Subunit

(Previous names: chromosome 22 open reading frame 12, DiGeorge syndrome critical...)
(Previous symbol: C22orf12)
  See DGCR8-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
DGCR8 Microprocessor Complex Subunit1 2     Chromosome 22 Open Reading Frame 121
C22orf121 2 3     Gy12
DiGeorge Syndrome Critical Region Gene 81 2     Microprocessor Complex Subunit DGCR82
DGCRK62 3     pasha2
DiGeorge Syndrome Critical Region 82 3     

External Ids:    HGNC: 28471   Entrez Gene: 544872   Ensembl: ENSG000001281917   OMIM: 6090305   UniProtKB: Q8WYQ53   

Export aliases for DGCR8 gene to outside databases

Previous GC identifers: GC22P017008 GC22P018443 GC22P018444 GC22P018445 GC22P018446 GC22P003688


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include double-stranded RNA binding.

UniProtKB/Swiss-Prot: DGCR8_HUMAN, Q8WYQ5
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

Gene Wiki entry for DGCR8 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DGCR8 gene promoter:
         c-Fos   AP-1   MyoD   AREB6   CREB   RORalpha1   deltaCREB   c-Myb   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDGCR8 promoter sequence
   Search Chromatin IP Primers for DGCR8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DGCR8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q11.2   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.2

DGCR8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DGCR8 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P020070:  view genomic region     (about GC identifiers)

Start:
20,067,755 bp from pter      End:
20,099,400 bp from pter
Size:
31,646 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DGCR8_HUMAN, Q8WYQ5 (See protein sequence)
Recommended Name: Microprocessor complex subunit DGCR8  
Size: 773 amino acids; 86045 Da
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
Sequence caution: Sequence=AAO86726.1; Type=Erroneous initiation; Sequence=BAB15165.1; Type=Erroneous initiation;
Sequence=BAB15238.1; Type=Erroneous initiation;
3 PDB 3D structures from and Proteopedia for DGCR8:
1X47 (3D)        2YT4 (3D)        3LE4 (3D)    
Secondary accessions: B2R8G1 Q6DCB2 Q6MZE9 Q6Y2L0 Q96G39 Q96GP8 Q9H6L8 Q9H6T7 Q9NRW2
Alternative splicing: 3 isoforms:  Q8WYQ5-1   Q8WYQ5-2   Q8WYQ5-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DGCR8: NX_Q8WYQ5

Explore proteomics data for DGCR8 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DGCR8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001177255.1  NP_073557.3  

    ENSEMBL proteins: 
     ENSP00000263209   ENSP00000409625   ENSP00000384726   ENSP00000372488  
    Reactome Protein details: Q8WYQ5

    DGCR8 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for DGCR8

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR014720 dsRNA-bd_dom
     IPR001202 WW_dom

    Graphical View of Domain Structure for InterPro Entry Q8WYQ5

    ProtoNet protein and cluster: Q8WYQ5

    1 Blocks protein domain: IPB001159 Double-stranded RNA binding (DsRBD) domain

    UniProtKB/Swiss-Prot: DGCR8_HUMAN, Q8WYQ5
    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


    Find genes that share domains with DGCR8           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DGCR8_HUMAN, Q8WYQ5
    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

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003725double-stranded RNA binding IDA17704815
    GO:0005515protein binding IPI15574589
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with DGCR8           About GenesLikeMe


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Dgcr8):
     behavior/neurological  cardiovascular system  cellular  hearing/vestibular/ear  mortality/aging 
     muscle  nervous system 

    Find genes that share phenotypes with DGCR8           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Dgcr8tm1.2Blel for DGCR8

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DGCR8
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DGCR8
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DGCR8

    miRNA
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    miRTarBase miRNAs that target DGCR8:
    hsa-mir-30e-3p (MIRT044120), hsa-let-7e-5p (MIRT051420), hsa-mir-197-3p (MIRT048068), hsa-mir-652-3p (MIRT039550)

    Block miRNA regulation of human, mouse, rat DGCR8 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DGCR8 (see all 19):
    hsa-miR-218-1* hsa-miR-132 hsa-miR-650 hsa-miR-548a-3p hsa-miR-9 hsa-miR-499-5p hsa-miR-149 hsa-miR-548x
    SwitchGear 3'UTR luciferase reporter plasmidDGCR8 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DGCR8

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    Addgene plasmids for DGCR8 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DGCR8


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DGCR8_HUMAN, Q8WYQ5: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton4
    cytosol3

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0015630microtubule cytoskeleton IDA--

    Find genes that share ontologies with DGCR8           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DGCR8 About    
    See pathways by source

    SuperPathContained pathways About
    1Regulatory RNA pathways
    Regulatory RNA pathways0.88
    MicroRNA (miRNA) Biogenesis0.88
    2Gene Expression
    Gene Expression0.40
    3Translational Control
    Translational Control
    4Direct p53 effectors
    Direct p53 effectors


    Find genes that share SuperPaths with DGCR8           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for DGCR8
        Translational Control

    1 BioSystems Pathway for DGCR8
        Direct p53 effectors

    1 Reactome Pathway for DGCR8
        MicroRNA (miRNA) biogenesis


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DGCR8
    Interactions:

        GeneGlobe Interaction Network for DGCR8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for DGCR8 (Q8WYQ51, 2, 3 ENSP000002632094) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DROSHAQ9NRR41, 2, 3, ENSP000003398454EBI-528411,EBI-528367 MINT-8329598 I2D: score=4 STRING: ENSP00000339845
    DDX5P178442, 3, ENSP000002257924MINT-8329598 I2D: score=1 STRING: ENSP00000225792
    DDX17Q928412, 3, ENSP000003800334MINT-8329598 I2D: score=1 STRING: ENSP00000380033
    RBPJQ063303, ENSP000003452064I2D: score=4 STRING: ENSP00000345206
    HNRNPRO433903, ENSP000003637454I2D: score=1 STRING: ENSP00000363745
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010467gene expression TAS--
    GO:0031053primary miRNA processing IDA15531877

    Find genes that share ontologies with DGCR8           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DGCR8



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DGCR8 gene (2 alternative transcripts): 
    NM_001190326.1  NM_022720.6  

    Unigene Cluster for DGCR8:

    DiGeorge syndrome critical region gene 8
    Hs.643452  [show with all ESTs]
    Unigene Representative Sequence: NM_022720
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000351989(uc002zri.3) ENST00000457069 ENST00000495826 ENST00000407755
    ENST00000498171(uc002zrj.3) ENST00000491892 ENST00000495351 ENST00000485802
    ENST00000475941 ENST00000383024(uc010grz.3)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate DGCR8 (see all 19):
    hsa-miR-218-1* hsa-miR-132 hsa-miR-650 hsa-miR-548a-3p hsa-miR-9 hsa-miR-499-5p hsa-miR-149 hsa-miR-548x
    SwitchGear 3'UTR luciferase reporter plasmidDGCR8 3' UTR sequence
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    Addgene plasmids for DGCR8 
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      QuantiFast Probe-based Assays in human, mouse, rat DGCR8

    Additional mRNA sequence: 

    AK025427.1 AK025539.1 AK025780.1 AK222796.1 AK313357.1 AY189282.1 BC009323.2 BC009984.2 
    BC037564.1 BC078147.1 CR456356.1 

    18 DOTS entries:

    DT.314290  DT.95117995  DT.100021366  DT.95220939  DT.410798  DT.100831751  DT.100777569  DT.120644639 
    DT.95126904  DT.120644732  DT.86853097  DT.91981213  DT.100041842  DT.100640408  DT.100654498  DT.120644689 
    DT.92434104  DT.92434106 

    Selected AceView cDNA sequences (see all 449):

    CR456356 BX092967 CR456355 AI160881 BP374139 CD109384 AI611670 BX419936 
    AI355127 CB129878 H55281 BM920731 NM_022720 BG685068 BM809627 BC037564 
    CD631586 BQ718744 AA825558 AI269257 AI350727 AW964989 AK025780 BM480148 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DGCR8 (see all 8)    About this scheme

    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:                                                                                            -                                                               


    ECgene alternative splicing isoforms for DGCR8

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DGCR8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTCAAGGCC
    DGCR8 Expression
    About this image


    DGCR8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
    DGCR8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DGCR8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.643452

    UniProtKB/Swiss-Prot: DGCR8_HUMAN, Q8WYQ5
    Tissue specificity: Ubiquitously expressed

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DGCR8

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for DGCR8 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dgcr81 , 5 DiGeorge syndrome critical region gene 81, 5 90.56(n)1
    95.34(a)1
      16 (11.31 cM)5
    942231  NM_033324.21  NP_201581.21 
     182539485 
    chicken
    (Gallus gallus)
    Aves DGCR81 DiGeorge syndrome critical region gene 8 79.06(n)
    84.7(a)
      416785  XM_415079.4  XP_415079.2 
    lizard
    (Anolis carolinensis)
    Reptilia aca-mir-54176
    aca-mir-1306
    82(a)
    1 ↔ 1
    GL343364.1(1058390-1077230)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.198782 Xenopus laevis transcribed sequence with weak similarity more 77.91(n)    BQ400189.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc23f082 wufc23f08 81.18(n)   324284  AL721594.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta pasha1 partner of drosha 49.94(n)
    41.35(a)
      43728  NM_001276221.1  NP_001263150.1 
    worm
    (Caenorhabditis elegans)
    Secernentea pash-16
    --
    22(a)
    1 ↔ 1
    I(10598708-10606740) WBGene00011908


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DGCR8 gene
    1 SIMAP similar gene for DGCR8 using alignment to 3 protein entries:     DGCR8_HUMAN (see all proteins):
    TARBP2

    Find genes that share paralogs with DGCR8           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for DGCR8 (see all 789)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1450983471,2
    --4007042(+) ACCCAA/CCCGCC 2 -- us2k10--------
    rs1902158221,2
    --4007064(+) AAGTGC/TTGGGA 2 -- us2k10--------
    rs1748851,2
    C,F--4007100(+) gccTAT/ATTTTT 2 -- us2k19Minor allele frequency- A:0.00NA WA CSA EA 253
    rs1483440711,2
    --4007186(+) CACTGC/TAACTC 2 -- us2k10--------
    rs2001217161,2
    --4007226(+) TTCAG-/CCTCCTCC 2 -- cds10--------
    rs1506482531,2
    C--4007231(+) CCTCC-/ACACGTAG 2 -- cds10--------
    rs1488399411,2
    C--4007385(+) TTACAC/GGCATG 2 -- us2k10--------
    rs1505261361,2
    --4007414(+) TGCTCA/GCTATT 2 -- us2k10--------
    rs1383850411,2
    --4007469(+) TGGCCC/TGATCT 2 -- us2k10--------
    rs1406608401,2
    C--4007509(+) TCAAGC/TGATTC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for DGCR8 (20067755 - 20099400 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DGCR8 (see all 18):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv435744CNV Deletion17901297
    dgv4857n71CNV Loss21882294
    nsv471183CNV Loss18288195
    nsv914327CNV Loss21882294
    dgv4859n71CNV Loss21882294
    dgv4858n71CNV Loss21882294
    nsv914347CNV Loss21882294
    nsv521042CNV Loss19592680
    dgv4860n71CNV Loss21882294
    dgv72n68CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DGCR8
    DNA2.0 Custom Variant and Variant Library Synthesis for DGCR8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609030    OMIM disorders: --

    1 disease for DGCR8:    
    About MalaCards
    digeorge syndrome

    1 disease from the University of Copenhagen DISEASES database for DGCR8:
    DiGeorge syndrome

    Find genes that share disorders with DGCR8           About GenesLikeMe

    1 Novoseek inferred disease relationship for DGCR8 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    digeorge syndrome 87.8 6 15867338 (1), 19301657 (1), 16957365 (1), 15531877 (1) (see all 5)

    Genetic Association Database (GAD): DGCR8
    Human Genome Epidemiology (HuGE) Navigator: DGCR8 (8 documents)

    Export disorders for DGCR8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DGCR8 gene, integrated from 10 sources (see all 66):
    (articles sorted by number of sources associating them with DGCR8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Posttranscriptional crossregulation between Drosha and DGCR8. (PubMed id 19135890)1, 2, 9 Han J.... Kim V.N. (Cell 2009)
    2. Molecular cloning and expression analysis of a novel gene DGCR8 located in the DiGeorge syndrome chromosomal region. (PubMed id 12705904)1, 2, 9 Shiohama A.... Shimizu N. (Biochem. Biophys. Res. Commun. 2003)
    3. Single nucleotide polymorphisms of microRNA machinery genes modify the risk of renal cell carcinoma. (PubMed id 19047128)1, 4, 9 Horikawa Y....Wu X. (Clin. Cancer Res. 2008)
    4. The microprocessor complex mediates the genesis of microRNAs. (PubMed id 15531877)1, 2, 9 Gregory R.I.... Shiekhattar R. (Nature 2004)
    5. DiGeorge critical region 8 (DGCR8) is a double-cysteine-ligated heme protein. (PubMed id 21454614)1, 3 Barr I....Guo F. (J. Biol. Chem. 2011)
    6. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PubMed id 20819778)1, 4 Zhang X....Wu X. (Carcinogenesis 2010)
    7. Association of a common AGO1 variant with lung cancer risk: a two-stage case-control study. (PubMed id 20721975)1, 4 Kim J.S....Park J.Y. (Mol. Carcinog. 2010)
    8. Genetic variation in MicroRNA genes and risk of oral premalignant lesions. (PubMed id 19851984)1, 4 Clague J....Wu X. (Mol. Carcinog. 2010)
    9. Genetic variations in microRNA-related genes are associated with survival and recurrence in patients with renal cell carcinoma. (PubMed id 20732906)1, 4 Lin J....Wu X. (Carcinogenesis 2010)
    10. Genetic variations in microRNA-related genes are novel susceptibility loci for esophageal cancer risk. (PubMed id 19138993)1, 4 Ye Y....Wu X. (Cancer Prev Res (Phila) 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 54487 HGNC: 2847 AceView: DGCR8andDKFZp761P1121 Ensembl:ENSG00000128191 euGenes: HUgn54487
    ECgene: DGCR8 H-InvDB: DGCR8

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for DGCR8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for DGCR8 gene:
    Search GeneIP for patents involving DGCR8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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