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DGCR6L Gene

protein-coding   GIFtS: 47
GCID: GC22M020301

DiGeorge Syndrome Critical Region Gene 6-Like

  See DGCR6L-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
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000022.11  NC_018933.2  NT_011520.13  
Regulatory elements:
   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 Chromatin IP Primers for DGCR6L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: DGC6L_HUMAN, Q9BY27 (See protein sequence)
Recommended Name: Protein DGCR6L  
Size: 220 amino acids; 24932 Da
Secondary accessions: A8K1N7 D3DX29 Q9BW33

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

Explore proteomics data for DGCR6L at MOPED


See DGCR6L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_150282.2  
ENSEMBL proteins: 
 ENSP00000248879   ENSP00000386052   ENSP00000403341  

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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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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


Find genes that share domains with DGCR6L           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: DGC6L_HUMAN, Q9BY27
Function: May play a role in neural crest cell migration into the third and fourth pharyngeal pouches

Animal Models:

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miRTarBase miRNAs that target DGCR6L:
hsa-mir-423-3p (MIRT042610), hsa-mir-484 (MIRT041878)

Block miRNA regulation of human, mouse, rat DGCR6L using miScript Target Protectors
2 qRT-PCR Assays for microRNAs that regulate DGCR6L:
hsa-miR-330-5p hsa-miR-326
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Inhib. RNA
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(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
DGC6L_HUMAN, Q9BY27: Nucleus. Note=Predominantly nuclear
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus5
cytosol2
mitochondrion1

Gene Ontology (GO): 1 cellular component term:    About this table

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

Find genes that share ontologies with DGCR6L           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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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DGCR6L
Interactions:

    Search GeneGlobe Interaction Network for DGCR6L

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

Selected 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
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(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 drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for 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,
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 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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2 qRT-PCR Assays for microRNAs that regulate DGCR6L:
hsa-miR-330-5p hsa-miR-326
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat DGCR6L
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  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 

Selected AceView cDNA sequences (see all 167):

BF060971 BE397208 BE304646 AI686423 AA321210 BV176906 AI831595 AI091331 
CR602164 BE378683 AI375052 AW001417 AW015192 CR456361 AI073883 AI244431 
CA309620 AA740266 BU633305 AA578552 CR621073 AW088499 CR598657 AA234615 

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™, 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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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

DGCR6L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

DGCR6L Protein Expression

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

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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)
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This gene was present in the common ancestor of animals.

Orthologs for DGCR6L gene from Selected species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chicken
(Gallus gallus)
Aves DGCR66
Protein DGCR6
75(a)
1 → many
15(10082422-10090719)
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
63(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
34(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)
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Paralogs for DGCR6L gene
DGCR62  
1 SIMAP similar gene for DGCR6L using alignment to 3 protein entries:     DGC6L_HUMAN (see all proteins):
DGCR6

Find genes that share paralogs with DGCR6L           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)
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Selected SNPs for DGCR6L (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) Selected 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

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing DGCR6L
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 609459    OMIM disorders: --

1 disease for DGCR6L:    
About MalaCards
digeorge syndrome

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

Find genes that share disorders with DGCR6L           About GenesLikeMe


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)
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PubMed articles for DGCR6L gene integrated from 10 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. (Genome Res. 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. (Hum. Genet. 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. (Genome Res. 2004)
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  5. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
  6. Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome. (PubMed id 22832905)1 Das Chakraborty R....Shashi V. (Transl Psychiatry 2012)
  7. DGCR6L, a novel PAK4 interaction protein, regulates PAK4-mediated migration of human gastric cancer cell via LIMK1. (PubMed id 19778628)1 Li X....Li F. (amp 2010)
  8. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

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

(According to HUGE)
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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)
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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.)
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Patent Information for DGCR6L gene:
Search GeneIP for patents involving DGCR6L

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
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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