DGCR6L Gene
protein-coding GIFtS: 46
GCID: GC22M020301
|
|
DiGeorge syndrome critical region gene 6-like
| |
Aliases
for DGCR6L gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| DiGeorge Syndrome Critical Region Gene 6-Like1 2 | | DiGeorge Syndrome Critical Region 6-Like Protein2 3 | | FLJ106661 | | DiGeorge Syndrome Critical Region Gene 6 Like2 | | Protein DGCR6L2 |
Export aliases for DGCR6L gene to outside databasesPrevious GC identifers: GC22M017242 GC22M018676 GC22M003921 |
Summaries
for DGCR6L gene(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:
This gene, the result of a duplication at this locus, is one of two functional genes encoding nearly identical proteinsthat have similar expression patterns. The product of this gene is a protein that shares homology with the Drosophilagonadal protein, expressed in gonadal tissues and germ cells, and with the human laminin gamma-1 chain that functionsin cell attachment and migration. This gene is located in a region of chromosome 22 implicated in the DiGeorgesyndrome, one facet of a broader collection of anomalies referred to as the CATCH 22 syndrome. (provided by RefSeq,Jul 2008)
UniProtKB/Swiss-Prot: DGC6L_HUMAN, Q9BY27Function: May play a role in neural crest cell migration into the third and fourth pharyngeal pouches
|
Genomic Views
for DGCR6L 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000022.10 NC_018933.1 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
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: 22q11.21DGCR6L Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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:
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20,307,628 bp from pter |
Size:
|
5,868 bases |
Orientation:
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minus strand |
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Proteins
for DGCR6L gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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 Q9BW33Explore the universe of human proteins at neXtProt for DGCR6L: NX_Q9BY27
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9BY27
DGCR6L Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_150282.2
ENSEMBL proteins: ENSP00000248879 ENSP00000386052 ENSP00000403341
Human Recombinant Protein Products for DGCR6L:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005634 | nucleus |
IEA | -- |
DGCR6L for ontologies About GeneDecksing
DGCR6L Antibody Products:
Assay Products for DGCR6L: |
Protein
Domains /
Families
for DGCR6L gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DGCR6L for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9BY27ProtoNet protein and cluster: Q9BY27 1 Blocks protein family: IPB010849 DiGeorge syndrome critical 6
UniProtKB/Swiss-Prot: DGC6L_HUMAN, Q9BY27Similarity: Belongs to the gonadal family |
Function
for DGCR6L gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
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,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: DGC6L_HUMAN, Q9BY27Function: May play a role in neural crest cell migration into the third and fourth pharyngeal pouchesAnimal Models:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DGCR6L
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DGCR6L (see all 2)
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DGCR6L |
|
Pathways & Interactions
for DGCR6L gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 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)About this table
|
Drugs & Compounds
for DGCR6L gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for DGCR6L
Search CenterWatch for drugs/clinical trials and news about DGCR6L / DGC6L
|
Transcripts
for DGCR6L gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
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: BF2100903 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000248879(uc002zrx.3 uc010gsb.3 uc010gsc.3) ENST00000405465
ENST00000443409
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DGCR6L
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DGCR6L (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | 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 |
Additional cDNA 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): AA321210 AW582873 BG698445 BE378683 AA740266 AI831595 AA243676 AW001417 BF060971 AI073883 CR456361 BC000682 BV176906 AA578552 AI375052 AI091331 AI244431 CA309620 BU185469 AW015192 BE304646 AW592091 BX114080 BU633305
GeneLoc Exon Structure
|
Expression
for DGCR6L gene
(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
CGAP TAG: --
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, Q9BY27Tissue specificity: Widely expressed in fetal and adult tissues. Highest expression in liver, heart and skeletalmuscle. Lower levels in pancreas and placenta. Weak expression in brain
SABiosciences Custom PCR Arrays for DGCR6L
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DGCR6L
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DGCR6L |
Orthologs
for DGCR6L gene
(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 4/12 species (see all 12) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
DGCR6_CHICK6 |
Protein DGCR6 |
75(a) |
1 → many |
15(10343880-10351072) |
lizard
(Anolis carolinensis) |
Reptilia |
-- |
-- |
69(a) |
1 → many |
GL343417.1(779952-782156) |
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
for DGCR6L gene(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
|
Genomic Variants
for DGCR6L gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 22 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DGCR6L (20301761 - 20307628 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for DGCR6L
5 CNVs: 79451 79454 4117 31071 90891 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DGCR6L |
|
Disorders
/ Diseases
for DGCR6L gene
(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.)
About This Section
|
DGCR6L for disorders About GeneDecksing
OMIM gene information: 609459
OMIM disorders: --
4  diseases for DGCR6L: About MalaCardsdigeorge syndrome velocardiofacial syndrome gastric cancer pharyngitis
2 diseases from the University of Copenhagen DISEASES database for DGCR6L:Velocardiofacial syndrome DiGeorge syndrome Export disorders for DGCR6L gene to outside databases
|
Publications
for DGCR6L gene (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 |
- 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)
- 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)
- A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
- 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)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- 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)
- Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
- 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)
|
External Searches for DGCR6L gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing DGCR6L gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DGCR6L gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DGCR6L gene(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
|
| Name | Description |
| PharmGKB entry for DGCR6L | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| 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
|
Products
for DGCR6L gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DGCR6L |
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