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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DGCR6 Gene

protein-coding   GIFtS: 55
GCID: GC22P018893

DiGeorge Syndrome Critical Region Gene 6

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
DiGeorge Syndrome Critical Region Gene 61 2
DiGeorge Syndrome Critical Region Protein 62
Protein DGCR62
DiGeorge Syndrome Critical Region 63

External Ids:    HGNC: 28461   Entrez Gene: 82142   Ensembl: ENSG000001836287   OMIM: 6012795   UniProtKB: Q141293   

Export aliases for DGCR6 gene to outside databases

Previous GC identifers: GC22P015834 GC22P017268 GC22P002515


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DGCR6 Gene:
DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal
region 22q11.2. The product of this gene shares homology with the Drosophila melanogaster gonadal protein, which
participates in gonadal and germ cell development, and with the gamma-1 subunit of human laminin. This gene is a
candidate for involvement in DiGeorge syndrome pathology and in schizophrenia. (provided by RefSeq, Nov 2008)

GeneCards Summary for DGCR6 Gene: 
DGCR6 (DiGeorge syndrome critical region gene 6) is a protein-coding gene. Diseases associated with DGCR6 include digeorge syndrome, and pharyngitis. GO annotations related to this gene include molecular_function. An important paralog of this gene is DGCR6L.

UniProtKB/Swiss-Prot: DGCR6_HUMAN, Q14129
Function: May play a role in neural crest cell migration into the third and fourth pharyngeal pouches

Gene Wiki entry for DGCR6 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.2  NT_011519.10  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DGCR6 gene promoter:
         HEN1   CREB   Elk-1   Pax-3   Pax-5   deltaCREB   MyoD   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDGCR6 promoter sequence
   Search SABiosciences Chromatin IP Primers for DGCR6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DGCR6


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

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

DGCR6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DGCR6 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P018893:  view genomic region     (about GC identifiers)

Start:
18,893,541 bp from pter      End:
18,901,751 bp from pter
Size:
8,211 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DGCR6_HUMAN, Q14129 (See protein sequence)
Recommended Name: Protein DGCR6  
Size: 220 amino acids; 24989 Da
Subcellular location: Nucleus. Note=Predominantly nuclear
Sequence caution: Sequence=CAA65339.1; Type=Frameshift; Positions=69;
Secondary accessions: B2RCH5 D3DX15 Q9BY28

Explore the universe of human proteins at neXtProt for DGCR6: NX_Q14129

Explore proteomics data for DGCR6 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14129

  • DGCR6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DGCR6 Protein Expression
    REFSEQ proteins: NP_005666.2  
    ENSEMBL proteins: 
     ENSP00000402409   ENSP00000331681   ENSP00000467483   ENSP00000397633   ENSP00000466276  

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    Cloud-Clone Corp. Proteins for DGCR6 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix TAS8733130
    GO:0005634nucleus IEA--

    DGCR6 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR010849 DGCR6

    Graphical View of Domain Structure for InterPro Entry Q14129

    ProtoNet protein and cluster: Q14129

    1 Blocks protein domain: IPB010849 DiGeorge syndrome critical 6

    UniProtKB/Swiss-Prot: DGCR6_HUMAN, Q14129
    Similarity: Belongs to the gonadal family


    DGCR6 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DGCR6_HUMAN, Q14129
    Function: May play a role in neural crest cell migration into the third and fourth pharyngeal pouches
    Induction: Increased levels in several tumor cell lines, including lung and colon adenocarcinomas and mammary
    carcinomas. Strongly induced in Burkitt's lymphoma and lymphocytes transformed by EBV

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    DGCR6 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DGCR6:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for DGCR6 
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate DGCR6:
    hsa-miR-330-5p hsa-miR-326
    SwitchGear 3'UTR luciferase reporter plasmidDGCR6 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DGCR6

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion TAS8733130
    GO:0009887organ morphogenesis TAS8733130

    DGCR6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DGCR6

    Search CenterWatch for drugs/clinical trials and news about DGCR6

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DGCR6 gene: 
    NM_005675.4  

    Unigene Cluster for DGCR6:

    DiGeorge syndrome critical region gene 6
    Hs.474185  [show with all ESTs]
    Unigene Representative Sequence: AK098780
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000413981(uc002zog.3) ENST00000331444(uc002zoh.4) ENST00000483718
    ENST00000427407 ENST00000480608(uc002zoi.4) ENST00000477156 ENST00000436645

    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate DGCR6:
    hsa-miR-330-5p hsa-miR-326
    SwitchGear 3'UTR luciferase reporter plasmidDGCR6 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    Additional mRNA sequence: 

    AF228707.1 AK098780.1 AK315115.1 BC033306.1 BC047039.1 CR456434.1 CR542133.1 X96484.1 

    10 DOTS entries:

    DT.100796305  DT.95288412  DT.100796307  DT.100028214  DT.75183365  DT.416745  DT.100009741  DT.402246 
    DT.97794752  DT.97845377 

    24/95 AceView cDNA sequences (see all 95):

    BM927298 CR542133 BM548122 BM873324 CK906137 BI962700 CR456434 AK098780 
    BC047039 CD673157 BQ921101 CD671455 CD672240 BQ639188 BM127525 AJ572966 
    BX336971 F22773 BM672463 F22774 BC033306 AI809136 AF228707 BI600705 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DGCR6 expression in normal human tissues (normalized intensities)      DGCR6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGAAGAGGC
    DGCR6 Expression
    About this image


    DGCR6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Thalamus
             Olfactory Bulb   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   

    See DGCR6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DGCR6

    SOURCE GeneReport for Unigene cluster: Hs.474185

    UniProtKB/Swiss-Prot: DGCR6_HUMAN, Q14129
    Tissue specificity: Found in all tissues examined with highest expression in liver, heart and skeletal muscle.
    Lower levels in pancreas and placenta. Weak expression in brain

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DGCR6

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for DGCR6 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dgcr61 , 5 DiGeorge syndrome critical region gene 61, 5 86.83(n)1
    94.44(a)1
      16 (11.19 cM)5
    133531  NM_010047.31  NP_034177.11 
     180528605 
    chicken
    (Gallus gallus)
    Aves DGCR61 DGCR6 homolog 78.74(n)
    78.57(a)
      395907  NM_205040.1  NP_990371.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    63(a)
    1 → many
    GL343417.1(779649-782577)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.39722 Transcribed sequence with moderate similarity to protein more 72.67(n)    AL854739.2 
    zebrafish
    (Danio rerio)
    Actinopterygii dgcr61 DiGeorge syndrome critical region gene 6 67.53(n)
    65.46(a)
      403055  NM_205739.1  NP_991302.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta gdl1 gonadal 49.9(n)
    40(a)
      3772583  NM_001031956.2  NP_001027127.1 


    ENSEMBL Gene Tree for DGCR6 (if available)
    TreeFam Gene Tree for DGCR6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DGCR6 gene
    DGCR6L2  
    1 SIMAP similar gene for DGCR6 using alignment to 5 protein entries:     DGCR6_HUMAN (see all proteins):
    DGCR6L

    DGCR6 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for DGCR6
    PGOHUM00000246234


    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/255 SNPs in DGCR6 are shown (see all 255)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1895718091,2
    --2513965(+) AGTGGC/TCTGAG 1 -- us2k10--------
    rs1822787451,2
    --2513988(+) TTATTC/TACTTT 1 -- us2k10--------
    rs1391270331,2
    --2513993(+) CACTTC/TATTCA 1 -- us2k10--------
    rs1867602031,2
    --2835125(+) TGCAAA/GTCTGA 1 -- us2k10--------
    rs1454561011,2
    C--2835174(+) GCTCTA/TTGGAC 1 -- us2k10--------
    rs4386731,2
    C,A,H--2835213(+) GCACCT/CGCCCT 1 -- us2k16Minor allele frequency- C:0.40MN NA WA CSA 194
    rs1924433471,2
    --2835239(+) CTTCCA/GCAGCC 1 -- us2k10--------
    rs1857266291,2
    --2835245(+) CAGCCG/TGGCCA 1 -- us2k10--------
    rs1886496741,2
    --2835294(+) CAGGGA/CCTTTG 1 -- us2k10--------
    rs1424131621,2
    --2835389(+) ATGGTC/TGGTGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for DGCR6 (18893541 - 18901751 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/37 variations for DGCR6 (see all 37):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv435744CNV Deletion17901297
    dgv4827n71CNV Loss21882294
    nsv914227CNV Loss21882294
    dgv4826n71CNV Loss21882294
    nsv459336CNV Loss19166990
    nsv471180CNV Loss18288195
    nsv914226CNV Loss21882294
    nsv914195CNV Loss21882294
    dgv542n27CNV Loss19166990
    esv2751935CNV Loss17911159


    Human Gene Mutation Database (HGMD): DGCR6
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing DGCR6
    DNA2.0 Custom Variant and Variant Library Synthesis for DGCR6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601279    OMIM disorders: --

    9 diseases for DGCR6:    About MalaCards
    digeorge syndrome    pharyngitis    velocardiofacial syndrome    schizoaffective disorder
    schizophrenia    colon adenocarcinoma    burkitt's lymphoma    retinitis
    adenocarcinoma

    3 diseases from the University of Copenhagen DISEASES database for DGCR6:
    DiGeorge syndrome     Velocardiofacial syndrome     Schizoaffective disorder

    DGCR6 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for DGCR6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    velo-cardio-facial syndrome 89.8 2 15821931 (1)
    digeorge syndrome 89.5 8 9605865 (3), 19420922 (1), 8733130 (1), 15821931 (1)

    Genetic Association Database (GAD): DGCR6
    Human Genome Epidemiology (HuGE) Navigator: DGCR6 (2 documents)

    Export disorders for DGCR6 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)
    About This Section

    PubMed articles for DGCR6 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with DGCR6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes. (PubMed id 8733130)1, 2, 3, 9 Demczuk S.... Aurias A. (1996)
    2. Biochemical characterisation of the proteins encoded by the DiGeorge critical region 6 (DGCR6) genes. (PubMed id 15821931)1, 2, 9 Pfuhl T.... Graesser F.A. (2005)
    3. Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus. (PubMed id 11157784)1, 2, 9 Edelmann L.... Morrow B.E. (2001)
    4. Comprehensive copy number variant (CNV) analysis of n euronal pathways genes in psychiatric disorders identifies rare variants within patients. (PubMed id 20398908)1, 4 Saus E....Estivill X. (2010)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    7. Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome. (PubMed id 22832905)1 Das Chakraborty R....Shashi V. (2012)
    8. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    9. GABA(B) receptor subunit 1 binds to proteins affected in 22q11 deletion syndrome. (PubMed id 20036641)1 Zunner D....Kornau H.C. (2010)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8214 HGNC: 2846 AceView: DGCR6 Ensembl:ENSG00000183628 euGenes: HUgn8214
    ECgene: DGCR6 H-InvDB: DGCR6

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DGCR6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DGCR6 gene:
    Search GeneIP for patents involving DGCR6

    GeneCards and IP:
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