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

DGCR6L Gene

protein-coding   GIFtS: 46
GCID: GC22M020301

DiGeorge Syndrome Critical Region Gene 6-Like

  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 6-Like1 2
DiGeorge Syndrome Critical Region 6-Like Protein2 3
DiGeorge Syndrome Critical Region Gene 6 Like2
Protein DGCR6L2

External Ids:    HGNC: 185511   Entrez Gene: 853592   Ensembl: ENSG000001281857   OMIM: 6094595   UniProtKB: Q9BY273   

Export aliases for DGCR6L gene to outside databases

Previous GC identifers: GC22M017242 GC22M018676 GC22M003921


(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 DGCR6L Gene:
This gene, the result of a duplication at this locus, is one of two functional genes encoding nearly identical
proteins that have similar expression patterns. The product of this gene is a protein that shares homology with
the Drosophila gonadal protein, expressed in gonadal tissues and germ cells, and with the human laminin gamma-1
chain that functions in cell attachment and migration. This gene is located in a region of chromosome 22
implicated in the DiGeorge syndrome, one facet of a broader collection of anomalies referred to as the CATCH 22
syndrome. (provided by RefSeq, Jul 2008)

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

UniProtKB/Swiss-Prot: DGC6L_HUMAN, Q9BY27
Function: May play a role in neural crest cell migration into the third and fourth pharyngeal pouches




(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 DGCR6L gene promoter:
         Elk-1   Pax-5   Tal-1   MyoD   STAT5A   NRSF form 2   E47   HEN1   Pax-3   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDGCR6L promoter sequence
   Search SABiosciences Chromatin IP Primers for DGCR6L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DGCR6L


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

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

DGCR6L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DGCR6L gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M020301:  view genomic region     (about GC identifiers)

Start:
20,301,761 bp from pter      End:
20,307,628 bp from pter
Size:
5,868 bases      Orientation:
minus 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: DGC6L_HUMAN, Q9BY27 (See protein sequence)
Recommended Name: Protein DGCR6L  
Size: 220 amino acids; 24932 Da
Subcellular location: Nucleus. Note=Predominantly nuclear
Secondary accessions: A8K1N7 D3DX29 Q9BW33

Explore the universe of human proteins at neXtProt for DGCR6L: NX_Q9BY27

Explore proteomics data for DGCR6L at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BY27

  • DGCR6L Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DGCR6L Protein Expression
    REFSEQ proteins: NP_150282.2  
    ENSEMBL proteins: 
     ENSP00000248879   ENSP00000386052   ENSP00000403341  

    Human Recombinant Protein Products for DGCR6L: 
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    Novus Biologicals DGCR6L Proteins
    Novus Biologicals DGCR6L Lysates
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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for DGCR6L 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    DGCR6L for ontologies           About GeneDecksing



    DGCR6L Antibody Products: 
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    Cloud-Clone Corp. CLIAs for DGCR6L


    (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 Q9BY27

    ProtoNet protein and cluster: Q9BY27

    1 Blocks protein domain: IPB010849 DiGeorge syndrome critical 6

    UniProtKB/Swiss-Prot: DGC6L_HUMAN, Q9BY27
    Similarity: Belongs to the gonadal family


    DGCR6L 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: DGC6L_HUMAN, Q9BY27
    Function: May play a role in neural crest cell migration into the third and fourth pharyngeal pouches

    Animal Models:

       inGenious Targeting Laboratory - Custom generated mouse model solutions for DGCR6L 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DGCR6L

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DGCR6L 
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    miRNA
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    hsa-miR-330-5p hsa-miR-326
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    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DGCR6L


    (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 DGCR6L

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/10 Interacting proteins for DGCR6L (Q9BY273 ENSP000002488794) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DTNBP1Q96EV83, ENSP000003416804I2D: score=3 STRING: ENSP00000341680
    KRT15P190123, ENSP000002540434I2D: score=3 STRING: ENSP00000254043
    MBIPQ9NS733, ENSP000003244444I2D: score=3 STRING: ENSP00000324444
    ZNF446Q9NWS93, ENSP000003365654I2D: score=2 STRING: ENSP00000336565
    KCNRGQ8N5I33, ENSP000003241914I2D: score=2 STRING: ENSP00000324191
    About this table

    (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 DGCR6L (DGC6L)

    Search CenterWatch for drugs/clinical trials and news about DGCR6L / DGC6L

    (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 DGCR6L gene: 
    NM_033257.3  

    Unigene Cluster for DGCR6L:

    DiGeorge syndrome critical region gene 6-like
    Hs.410965  [show with all ESTs]
    Unigene Representative Sequence: BF210090
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000248879(uc002zrx.3 uc010gsb.3 uc010gsc.3) ENST00000405465
    ENST00000443409
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DGCR6L
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate DGCR6L:
    hsa-miR-330-5p hsa-miR-326
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for DGCR6L
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DGCR6L
    Clone
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    GenScript: all cDNA clones in your preferred vector: DGCR6L (NM_033257)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DGCR6L
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DGCR6L
    Sirion Biotech Customized lentivirus for stable overexpression of DGCR6L 
                         Customized lentivirus expression plasmids for stable overexpression of DGCR6L 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for DGCR6L
    OriGene qSTAR qPCR primer pairs in human, mouse for DGCR6L
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DGCR6L
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DGCR6L

    Additional mRNA sequence: 

    AF228708.1 AK001528.1 AK289952.1 AK307210.1 AK310899.1 BC000682.2 CR456361.1 

    10 DOTS entries:

    DT.416745  DT.100796303  DT.100796305  DT.97845376  DT.120644884  DT.100028211  DT.120644896  DT.92432908 
    DT.97845375  DT.120644888 

    24/167 AceView cDNA sequences (see all 167):

    BE304646 AI831595 BC000682 AI244431 BU185469 CR456361 BF060971 AA243676 
    BE397208 BU633305 AW582873 AW149742 AI686423 CR621073 AW088499 AW592091 
    CR598657 BX114080 BV176906 AA578552 CA309620 AI375052 BE378683 AW001417 

    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

    DGCR6L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DGCR6L Expression
    About this image


    See DGCR6L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DGCR6L

    SOURCE GeneReport for Unigene cluster: Hs.410965

    UniProtKB/Swiss-Prot: DGC6L_HUMAN, Q9BY27
    Tissue specificity: Widely expressed in fetal and adult tissues. Highest expression in liver, heart and skeletal
    muscle. Lower levels in pancreas and placenta. Weak expression in brain

        SABiosciences Custom PCR Arrays for DGCR6L
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DGCR6L

    (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 DGCR6L gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves DGCR66
    Protein DGCR6
    73(a)
    1 → many
    15(10082422-10090719)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    62(a)
    1 → many
    GL343417.1(779649-782577)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.165592 Danio rerio clone RK125A1B07 DiGeorge syndrome critical more 75.35(n)    AY398335.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta gdl6
    gonadal
    35(a)
    1 → many
    3L(15502545-15504147)
            Species with no ortholog for DGCR6L

    ENSEMBL Gene Tree for DGCR6L (if available)
    TreeFam Gene Tree for DGCR6L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DGCR6L gene
    DGCR62  
    1 SIMAP similar gene for DGCR6L using alignment to 3 protein entries:     DGC6L_HUMAN (see all proteins):
    DGCR6

    DGCR6L for paralogs           About GeneDecksing



    (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

    10/181 SNPs in DGCR6L are shown (see all 181)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1410535321,2
    C--20301346(+) GCAGAA/GGCCAA 1 -- ds50010--------
    rs19664411,2
    C,A,H--20301438(+) GACCTG/CCATCA 1 -- ds50014Minor allele frequency- C:0.00NS EA 418
    rs769382641,2
    C--20301800(-) GCCCAA/CATGTG 1 -- ut310--------
    rs1830779531,2
    C--20302006(+) CAGACA/GGCAGC 1 -- ut310--------
    rs3679062271,2
    C--20302150(+) CAGTGA/GCCAAA 1 -- ut310--------
    rs1408925241,2
    C,F--20302243(+) GCAGGC/TGACTG 2 S syn11Minor allele frequency- T:0.00NA 4498
    rs10568041,2,4
    C,F--20302276(+) GCTGCA/C/TTTCCC 3 K N mis1 ese36MN NA EA EU 5905
    rs10568081,2
    C,F--20302309(+) AGCTTT/CCGGAT 2 /R syn1 ese34Minor allele frequency- C:0.02MN NA EU 5897
    rs1870471451,2
    --20302364(+) AGGGGC/TCCCAT 1 -- int10--------
    rs1911509331,2
    C--20302384(+) AGTGAC/TCCCCA 1 -- int11Minor allele frequency- T:0.00EU 795

    HapMap Linkage Disequilibrium report for DGCR6L (20301761 - 20307628 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 variations for DGCR6L (see all 13):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv435744CNV Deletion17901297
    dgv16n31CNV Duplication19718026
    nsv914375CNV Loss21882294
    nsv471183CNV Loss18288195
    nsv519102CNV Loss19592680
    dgv4862n71CNV Loss21882294
    nsv828939CNV Loss20364138
    dgv4855n71CNV Loss21882294
    nsv914360CNV Gain21882294
    nsv828938CNV Gain20364138

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609459    OMIM disorders: --

    4 diseases for DGCR6L:    About MalaCards
    digeorge syndrome    pharyngitis    velocardiofacial syndrome    gastric cancer

    2 diseases from the University of Copenhagen DISEASES database for DGCR6L:
    Velocardiofacial syndrome     DiGeorge syndrome

    DGCR6L for disorders           About GeneDecksing


    Export disorders for DGCR6L 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 DGCR6L gene integrated from 9 sources:
    (articles sorted by number of sources associating them with DGCR6L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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, 3 Edelmann L.... Morrow B.E. (2001)
    2. Biochemical characterisation of the proteins encoded by the DiGeorge critical region 6 (DGCR6) genes. (PubMed id 15821931)1, 2 Pfuhl T.... Graesser F.A. (2005)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    6. Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome. (PubMed id 22832905)1 Das Chakraborty R....Shashi V. (2012)
    7. DGCR6L, a novel PAK4 interaction protein, regulates P AK4-mediated migration of human gastric cancer cell via LIMK1. (PubMed id 19778628)1 Li X....Li F. (2010)
    8. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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)
    About This Section
    Entrez Gene: 85359 HGNC: 18551 AceView: DGCR6L Ensembl:ENSG00000128185 euGenes: HUgn85359
    ECgene: DGCR6L H-InvDB: DGCR6L

    (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 DGCR6L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DGCR6L gene:
    Search GeneIP for patents involving DGCR6L

    GeneCards and IP:
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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