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DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. The product of this gene shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the gamma-1 subunit of human laminin. This gene is a candidate for involvement in DiGeorge syndrom... See more...
Aliases for DGCR6 Gene
Aliases for DGCR6 Gene
External Ids for DGCR6 Gene
- HGNC: 2846
- Entrez Gene: 8214
- Ensembl: ENSG00000183628
- OMIM: 601279
- UniProtKB: Q14129
Previous GeneCards Identifiers for DGCR6 Gene
- GC22P015834
- GC22P017268
- GC22P018893
- GC22P002515
Summaries for DGCR6 Gene
-
DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. The product of this gene shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the gamma-1 subunit of human laminin. This gene is a candidate for involvement in DiGeorge syndrome pathology and in schizophrenia. [provided by RefSeq, Nov 2008]
GeneCards Summary for DGCR6 Gene
DGCR6 (DiGeorge Syndrome Critical Region Gene 6) is a Protein Coding gene. Diseases associated with DGCR6 include Digeorge Syndrome and Schizophrenia. An important paralog of this gene is LOC102724770.
UniProtKB/Swiss-Prot Summary for DGCR6 Gene
-
May play a role in neural crest cell migration into the third and fourth pharyngeal pouches.
Additional gene information for DGCR6 Gene
- HGNC(2846)
- Entrez Gene(8214)
- Ensembl(ENSG00000183628)
- OMIM(601279)
- UniProtKB(Q14129)
- Open Targets Platform(ENSG00000183628)
- Monarch Initiative
- Search for DGCR6 at DataMed
- Search for DGCR6 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DGCR6 Gene
Genomics for DGCR6 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for DGCR6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around DGCR6 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DGCR6
- Top Transcription factor binding sites by QIAGEN in the DGCR6 gene promoter:
-
- CREB
- deltaCREB
- Elk-1
- HEN1
- MyoD
- Pax-3
- Pax-4a
- Pax-5
Genomic Locations for DGCR6 Gene
Genomic Locations for DGCR6 Gene
- chr22:18,906,028-18,914,238
- (GRCh38/hg38)
- Size:
- 8,211 bases
- Orientation:
- Plus strand
- chr22:18,893,541-18,901,751
- (GRCh37/hg19)
- Size:
- 8,211 bases
- Orientation:
- Plus strand
Genomic View for DGCR6 Gene
Genes around DGCR6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q11.21 by HGNC
- 22q11.21|22q11 by Entrez Gene
- 22q11.21 by Ensembl
DGCR6 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for DGCR6 Gene
Proteins for DGCR6 Gene
-
Protein details for DGCR6 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q14129-DGCR6_HUMAN
- Recommended name:
- Protein DGCR6
- Protein Accession:
- Q14129
- B2RCH5
- D3DX15
- G5E9J8
- Q9BY28
Protein attributes for DGCR6 Gene
- Size:
- 220 amino acids
- Molecular mass:
- 24989 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=CAA65339.1; Type=Frameshift; Evidence={ECO:0000305};
Post-translational modifications for DGCR6 Gene
Other Protein References for DGCR6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for DGCR6
-
Abcam antibodies for DGCR6
- Invitrogen Antibodies for DGCR6 (AFLGC-DGCR6)
Protein Products
-
OriGene Purified Proteins for DGCR6
- Search Origene for MassSpec and Protein Over-expression Lysates for DGCR6
- Origene Custom Protein Services for DGCR6
- ProSpec Recombinant Proteins for DGCR6
- antibodies-online: Show 7 available DGCR6 Proteins ranked by validation data
- Compare Top DGCR6 Proteins
-
Quality Products:
-
Abcam proteins for DGCR6
Assay Products
-
Signalway ELISA kits for DGCR6
No data available for DME Specific Peptides for DGCR6 Gene
Domains & Families for DGCR6 Gene
Gene Families for DGCR6 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for DGCR6 Gene
Suggested Antigen Peptide Sequences for DGCR6 Gene
- GenScript: Design optimal peptide antigens:
-
- DiGeorge syndrome critical region 6 (DGCR6_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q14129- Family:
-
- Belongs to the gonadal family.
Function for DGCR6 Gene
Molecular function for DGCR6 Gene
- UniProtKB/Swiss-Prot Function:
- May play a role in neural crest cell migration into the third and fourth pharyngeal pouches.
- UniProtKB/Swiss-Prot Induction:
- Increased levels in several tumor cell lines, including lung and colon adenocarcinomas and mammary carcinomas. Strongly induced in Burkitt's lymphoma and lymphocytes transformed by EBV.
Phenotypes From GWAS Catalog for DGCR6 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
Phenotypes for DGCR6 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for DGCR6
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for DGCR6 - Select products 50% OFF >
- * DGCR6 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for DGCR6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DGCR6
-
Santa Cruz Biotechnology (SCBT) CRISPR for DGCR6
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for DGCR6 - Select products 50% OFF >
- * DGCR6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for DGCR6
- Addgene plasmids for DGCR6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DGCR6
Cell Line Products
-
Horizon Cell Lines for DGCR6
No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DGCR6 Gene
Localization for DGCR6 Gene
Subcellular locations from UniProtKB/Swiss-Prot for DGCR6 Gene
- Nucleus. Note=Predominantly nuclear.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0031012 | extracellular matrix | TAS | 8733130 |
No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for DGCR6 Gene
Pathways & Interactions for DGCR6 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007155 | cell adhesion | TAS | 8733130 |
| GO:0009887 | animal organ morphogenesis | TAS | 8733130 |
No data available for Pathways by source and SIGNOR curated interactions for DGCR6 Gene
Transcripts for DGCR6 Gene
mRNA/cDNA for DGCR6 Gene
- 1 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000413981 1039 nts (view in UCSC)
- ENST00000331444 1117 nts (view in UCSC)
- ENST00000483718 3245 nts (view in UCSC)
- ENST00000427407 1199 nts (view in UCSC)
- ENST00000608842 1837 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for DGCR6 - Select products 50% OFF >
- * DGCR6 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for DGCR6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DGCR6
-
Santa Cruz Biotechnology (SCBT) CRISPR for DGCR6
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DGCR6
- Browse OriGene Inhibitory RNA Products For DGCR6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DGCR6
Clone Products
- Applied Biological Materials (abm): Clones for DGCR6 - Select products 50% OFF >
- * DGCR6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for DGCR6
- Addgene plasmids for DGCR6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DGCR6
Relevant External Links for DGCR6 Gene
- GeneLoc Exon Structure for
- DGCR6
Expression for DGCR6 Gene
mRNA differential expression in normal tissues according to GTEx for DGCR6 Gene
This gene is overexpressed in Muscle - Skeletal (x7.4).
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DGCR6
SOURCE GeneReport for Unigene cluster for DGCR6 Gene:
Hs.474185mRNA Expression by UniProt/SwissProt for DGCR6 Gene:
Q14129-DGCR6_HUMAN
Tissue specificity:
Found in all tissues examined with highest expression in liver, heart and skeletal muscle. Lower levels in pancreas and placenta. Weak expression in brain.
Primer Products
-
OriGene qPCR primer pairs for DGCR6
-
OriGene qPCR primer pairs and template standards for DGCR6
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DGCR6 Gene
Orthologs for DGCR6 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | DGCR6 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | DGCR6L 31 |
|
OneToMany | |
| DGCR6 30 |
|
||||
| Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
| DGCR6 30 |
|
||||
| Mouse (Mus musculus) |
Mammalia | Dgcr6 31 |
|
OneToMany | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| Chicken (Gallus gallus) |
Aves | DGCR6 30 31 |
|
OneToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dgcr6 30 |
|
||
| Str.3972 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | dgcr6 30 31 |
|
OneToMany | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | gdl 31 |
|
OneToMany |
- Species where no ortholog for DGCR6 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Platypus (Ornithorhynchus anatinus)
- Rainbow Trout (Oncorhynchus mykiss)
- Rat (Rattus norvegicus)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for DGCR6 Gene
- ENSEMBL:
- Gene Tree for DGCR6 (if available)
- TreeFam:
- Gene Tree for DGCR6 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for DGCR6: view image
Paralogs for DGCR6 Gene
Paralogs for DGCR6 Gene
(1) SIMAP similar genes for DGCR6 Gene using alignment to 5 proteins:
- DGCR6_HUMAN
- G5E9J8_HUMAN
- K7ELY4_HUMAN
- K7EPQ2_HUMAN
- Q6FGH4_HUMAN
Variants for DGCR6 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DGCR6 Gene
| SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 779194 | Benign: not provided | 18,906,398(+) | G/A | SYNONYMOUS_VARIANT | |
| rs770547541 | Uncertain Significance: not provided | 18,911,565(+) | T/C | MISSENSE_VARIANT | |
| rs16983281 | - | p.Ala117Val |
Residual Variation Intolerance Score:
78.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.02;
50.12% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for DGCR6 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DGCR6 Gene
Disorders for DGCR6 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| digeorge syndrome |
|
|
| schizophrenia |
|
|
Search DGCR6 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for DGCR6
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for DGCR6 Gene
Publications for DGCR6 Gene
- Biochemical characterisation of the proteins encoded by the DiGeorge critical region 6 (DGCR6) genes. (PMID: 15821931) Pfuhl T … Grässer FA (Human genetics 2005) 2 3 4 23
- Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes. (PMID: 8733130) Demczuk S … Aurias A (Human molecular genetics 1996) 2 3 4 23
- Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus. (PMID: 11157784) Edelmann L … Lupski J (Genome research 2001) 3 4 23
- Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R … Iakoucheva LM (Nature communications 2014) 3 4
- Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. (PMID: 20398908) Saus E … Estivill X (Journal of psychiatric research 2010) 3 41
ExternalLinks
Products for DGCR6 Gene
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- Custom Antibody Services
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- Custom Assay Services
- OriGene Purified Proteins for DGCR6
- Search Origene for MassSpec and Protein Over-expression Lysates for DGCR6
- Origene Custom Protein Services for DGCR6
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- OriGene qPCR primer pairs for DGCR6
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- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
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- antibodies-online: Show 10 available DGCR6 Antibodies ranked by validation data
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- antibodies-online: Show 7 available DGCR6 Proteins ranked by validation data
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- Quality Products:
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- Signalway ELISA kits for DGCR6
Sources for DGCR6 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
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- (10) PhosphoSitePlus
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- (30) HomoloGene
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- (63) OCA
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- (65) MOPED
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- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
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- (78) RefSeq
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