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    DGCR6L DiGeorge syndrome critical region gene 6-like [ Homo sapiens (human) ]

    Gene ID: 85359, updated on 9-Jun-2013
    Official Symbol
    DGCR6Lprovided by HGNC
    Official Full Name
    DiGeorge syndrome critical region gene 6-likeprovided by HGNC
    Primary source
    HGNC:18551
    See related
    Ensembl:ENSG00000128185; HPRD:16800; MIM:609459; Vega:OTTHUMG00000150583
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Location :
    22q11.21
    Sequence :
    Chromosome: 22; NC_000022.10 (20301761..20307628, complement)
    See DGCR6L in Epigenomics, MapViewer

    Chromosome 22 - NC_000022.10Genomic Context describing neighboring genes Neighboring gene reticulon 4 receptor Neighboring gene microRNA 1286 Neighboring gene proline dehydrogenase (oxidase) 1 pseudogene Neighboring gene uncharacterized LOC729444 Neighboring gene gamma-glutamyltransferase light chain 3

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome. Das Chakraborty R, et al. Transl Psychiatry, 2012 Apr 24. PMID 22832905.
    2. DGCR6L, a novel PAK4 interaction protein, regulates PAK4-mediated migration of human gastric cancer cell via LIMK1. Li X, et al. Int J Biochem Cell Biol, 2010 Jan. PMID 19778628.
    3. Towards a proteome-scale map of the human protein-protein interaction network. Rual JF, et al. Nature, 2005 Oct 20. PMID 16189514.
    4. Biochemical characterisation of the proteins encoded by the DiGeorge critical region 6 (DGCR6) genes. Pfuhl T, et al. Hum Genet, 2005 Jun. PMID 15821931.
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334.

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Further studies are now needed to test the usefulness of DGCR6 and DGCR6L expression and alterations in the epigenome at these loci in predicting childhood anxiety and associated adult-onset pathologies in 22q11DS subjects.
      Title: Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome.
    2. DGCR6L, a novel PAK4 interacting protein, regulated PAK4-mediated migration of human gastric cancer cells via LIMK1.
      Title: DGCR6L, a novel PAK4 interaction protein, regulates PAK4-mediated migration of human gastric cancer cell via LIMK1.
    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    Q9BY27 Q96EV8 DTNBP1    HPRD  PubMed  
    Q9BY27 Q8N5I3 KCNRG    HPRD  PubMed  
    Q9BY27 P19012 KRT15    HPRD  PubMed  
    Q9BY27 P08727 KRT19    HPRD  PubMed  
    Q9BY27 Q9NS73 MBIP    HPRD  PubMed  
    Q9BY27 EF hand calcium binding protein 2 NECAB2    HPRD  PubMed  
    Q9BY27 Q9NWS9 ZNF446    HPRD  PubMed  
    BioGRID:124488 BioGRID:123857 DTNBP1    BioGRID  PubMed Two-hybrid 
    BioGRID:124488 BioGRID:129592 KCNRG    BioGRID  PubMed Two-hybrid 
    BioGRID:124488 BioGRID:110064 KRT15    BioGRID  PubMed Two-hybrid 
    BioGRID:124488 BioGRID:110078 KRT19    BioGRID  PubMed Two-hybrid 
    BioGRID:124488 BioGRID:119612 MBIP    BioGRID  PubMed Two-hybrid 
    BioGRID:124488 BioGRID:120035 NECAB2    BioGRID  PubMed Two-hybrid 
    BioGRID:124488 BioGRID:120795 ZNF446    BioGRID  PubMed Two-hybrid 

    Markers

    Genotypes

    Homology

    Clone Names

    • FLJ10666

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    protein DGCR6L
    Names
    protein DGCR6L
    DiGeorge syndrome critical region gene 6 like
    diGeorge syndrome critical region 6-like protein

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_033257.3 → NP_150282.2  protein DGCR6L

      Status: REVIEWED

      Source sequence(s)
      AC007663, BC000682
      Consensus CDS
      CCDS13778.1
      UniProtKB/Swiss-Prot
      Q9BY27
      Related
      ENSP00000248879, OTTHUMP00000197870, ENST00000248879, OTTHUMT00000318970
      Conserved Domains (1) summary
      pfam07324
      Location:1 – 194
      Blast Score: 589
      DGCR6; DiGeorge syndrome critical region 6 (DGCR6) protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000022.10 Reference GRCh37.p10 Primary Assembly

      Range
      20301761..20307628, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000154.1 Alternate HuRef

      Range
      3921141..3927006, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018933.1 Alternate CHM1_1.0

      Range
      4243766..4249633, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01005390.1 (13588..19453) None
    genomic AC007663.29 (160553..166420) None
    genomic AMYH01012488.1 (43056..48923) None
    genomic CH471176.2 EAX02972.1
      EAX02973.1
      EAX02974.1
    mRNA AF228708.1 AAK15585.1
    mRNA AK001528.1 BAG50932.1
    mRNA AK289952.1 BAF82641.1
    mRNA AK307210.1 None
    mRNA AK310899.1 None
    mRNA BC000682.2 AAH00682.1
    mRNA CR456361.1 CAG30247.1
    other-genetic CU013071.1 CAK54502.1
    other-genetic CU013359.1 CAK54801.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BY27.2 GenPept UniProtKB/Swiss-Prot:Q9BY27

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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