DGCR6 Gene
protein-coding GIFtS: 49
GCID: GC22P018893
|
|
DiGeorge syndrome critical region gene 6
| |
Aliases
for DGCR6 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 61 2 | | DiGeorge Syndrome Critical Region Protein 62 | | Protein DGCR62 | | DiGeorge Syndrome Critical Region 63 |
Export aliases for DGCR6 gene to outside databasesPrevious GC identifers: GC22P015834 GC22P017268 GC22P002515 |
Summaries
for DGCR6 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 DGCR6:
DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region22q11.2. The product of this gene shares homology with the Drosophila melanogaster gonadal protein, which participatesin gonadal and germ cell development, and with the gamma-1 subunit of human laminin. This gene is a candidate forinvolvement in DiGeorge syndrome pathology and in schizophrenia. (provided by RefSeq, Nov 2008)
UniProtKB/Swiss-Prot: DGCR6_HUMAN, Q14129Function: May play a role in neural crest cell migration into the third and fourth pharyngeal pouches
Gene Wiki entry for DGCR6
|
Genomic Views
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 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 DGCR6 gene promoter:
HEN1 CREB Elk-1 Pax-3 Pax-5 deltaCREB MyoD Pax-4a
Other transcription factors
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: 22q11.21DGCR6 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 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 |
|
Proteins
for DGCR6 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: 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 Q9BY28Explore the universe of human proteins at neXtProt for DGCR6: NX_Q14129
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q14129
DGCR6 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_005666.2
ENSEMBL proteins: ENSP00000402409 ENSP00000331681 ENSP00000467483 ENSP00000397633 ENSP00000466276
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
DGCR6 for ontologies About GeneDecksing
DGCR6 Antibody Products:
Assay Products for DGCR6: |
Protein
Domains /
Families
for DGCR6 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DGCR6 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q14129ProtoNet protein and cluster: Q14129 1 Blocks protein family: IPB010849 DiGeorge syndrome critical 6
UniProtKB/Swiss-Prot: DGCR6_HUMAN, Q14129Similarity: Belongs to the gonadal family |
Function
for DGCR6 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: DGCR6_HUMAN, Q14129Function: May play a role in neural crest cell migration into the third and fourth pharyngeal pouchesInduction: Increased levels in several tumor cell lines, including lung and colon adenocarcinomas and mammarycarcinomas. Strongly induced in Burkitt's lymphoma and lymphocytes transformed by EBV
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 DGCR6 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DGCR6
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: DGCR6 (NM_005675) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DGCR6 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DGCR6 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003674 | molecular_function |
ND | -- |
DGCR6 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for DGCR6:
|
Pathways & Interactions
for DGCR6 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 DGCR6
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table
DGCR6 for ontologies About GeneDecksing
|
Drugs & Compounds
for DGCR6 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 DGCR6
Search CenterWatch for drugs/clinical trials and news about DGCR6
|
Transcripts
for DGCR6 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,
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 DGCR6 gene: NM_005675.4 Unigene Cluster for DGCR6: DiGeorge syndrome critical region gene 6 Hs.474185 [show with all ESTs]Unigene Representative Sequence: AK0987807 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000413981(uc002zog.3) ENST00000331444(uc002zoh.4) ENST00000483718
ENST00000427407 ENST00000480608(uc002zoi.4) ENST00000477156 ENST00000436645
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DGCR6 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DGCR6
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: DGCR6 (NM_005675) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DGCR6 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DGCR6 |
Additional cDNA 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): CR542133 BI962700 CK906137 CD673157 BQ639188 BM127525 BM548122 BM927298 CD671455 BM873324 AK098780 BC047039 BQ921101 CD672240 CR456434 BX336971 BI600705 BM040848 AF228707 BI753895 CD672239 BI753183 BI756985 BM672463
GeneLoc Exon Structure
|
Expression
for DGCR6 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
| DGCR6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGAAGAGGC
About this image
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, Q14129Tissue specificity: Found in all tissues examined with highest expression in liver, heart and skeletal muscle. Lowerlevels in pancreas and placenta. Weak expression in brain
SABiosciences Custom PCR Arrays for DGCR6
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DGCR6
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat DGCR6 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DGCR6 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DGCR6 |
Orthologs
for DGCR6 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 DGCR6 gene from 5/17 species (see all 17) About this table
ENSEMBL Gene Tree for DGCR6 (if available)
TreeFam Gene Tree for DGCR6 (if available) |
Paralogs
for DGCR6 gene(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
|
Genomic Variants
for DGCR6 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 DGCR6 (18893541 - 18901751 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 24 variations for DGCR6
15/24 CNVs (see all 24): 3237 34524 30148 34485 50800 73703 4116 34650 37722 53199 31070 2259 73702 34618 8900 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DGCR6 |
|
Disorders
/ Diseases
for DGCR6 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
DGCR6 for disorders About GeneDecksing
OMIM gene information: 601279
OMIM disorders: --
9  diseases for DGCR6: About MalaCardsdigeorge syndrome schizophrenia velocardiofacial syndrome burkitt's lymphoma
colon adenocarcinoma pharyngitis adenocarcinoma retinitis
carcinoma
3 diseases from the University of Copenhagen DISEASES database for DGCR6:DiGeorge syndrome Velocardiofacial syndrome Schizoaffective disorder 2 Novoseek 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) |
Human Genome Epidemiology (HuGE) Navigator: DGCR6 (2 documents)
Export disorders for DGCR6 gene to outside databases
|
Publications
for DGCR6 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 DGCR6 gene, integrated from 9 sources (see all 17):
(articles sorted by number of sources associating them with DGCR6) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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)
- 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)
- 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)
- 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)
- A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
- 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)
- Comprehensive copy number variant (CNV) analysis of n euronal pathways genes in psychiatric disorders identifies rare variants within patients. (PubMed id 20398908)1 Saus E....Estivill X. (2010)
- GABA(B) receptor subunit 1 binds to proteins affected in 22q11 deletion syndrome. (PubMed id 20036641)1 Zunner D....Kornau H.C. (2010)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
- Expressed sequence tag analysis of human retina for the NEIBank project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts. (PubMed id 12107411)1 Wistow G.... Peterson K. (2002)
|
External Searches for DGCR6 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing DGCR6 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DGCR6 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DGCR6 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 DGCR6 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for DGCR6 gene:
Search GeneIP for patents involving DGCR6
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for DGCR6 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, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, 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
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for DGCR6 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DGCR6 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DGCR6 | | | OriGene Protein Over-expression Lysate for DGCR6 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for DGCR6 | | OriGene 3'-UTR Clone for DGCR6 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DGCR6 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DGCR6 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for DGCR6 | | OriGene Custom Protein Services for DGCR6 | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DGCR6 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DGCR6 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DGCR6 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DGCR6 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DGCR6 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DGCR6 |
| |
 |  |  |  | |
| | | | Search Tocris compounds for DGCR6 |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | DGCR6 Proteins, Antibodies, CLIAs, and ELISAs |
| | | |  |  |  | | | | ThermoFisher Antibodies for DGCR6 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DGCR6 |
|
|
|
|
