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This gene encodes a subunit of the microprocessor complex which mediates the biogenesis of microRNAs from the primary microRNA transcript. The encoded protein is a double-stranded RNA binding protein that functions as the non-catalytic subunit of the microprocessor complex. This protein is required for binding the double-stranded RNA substrate and facilitates cleavage of the RN... See more...
Aliases for DGCR8 Gene
Aliases for DGCR8 Gene
External Ids for DGCR8 Gene
- HGNC: 2847
- Entrez Gene: 54487
- Ensembl: ENSG00000128191
- OMIM: 609030
- UniProtKB: Q8WYQ5
Previous HGNC Symbols for DGCR8 Gene
- C22orf12
Previous GeneCards Identifiers for DGCR8 Gene
- GC22P017008
- GC22P018443
- GC22P018444
- GC22P018445
- GC22P018446
- GC22P020070
- GC22P003688
Summaries for DGCR8 Gene
-
This gene encodes a subunit of the microprocessor complex which mediates the biogenesis of microRNAs from the primary microRNA transcript. The encoded protein is a double-stranded RNA binding protein that functions as the non-catalytic subunit of the microprocessor complex. This protein is required for binding the double-stranded RNA substrate and facilitates cleavage of the RNA by the ribonuclease III protein, Drosha. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
GeneCards Summary for DGCR8 Gene
DGCR8 (DGCR8 Microprocessor Complex Subunit) is a Protein Coding gene. Diseases associated with DGCR8 include Digeorge Syndrome and Intracortical Osteogenic Sarcoma. Among its related pathways are DDX1 as a regulatory component of the Drosha microprocessor and Mitotic Prophase. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and double-stranded RNA binding.
UniProtKB/Swiss-Prot Summary for DGCR8 Gene
-
Component of the microprocessor complex that acts as a RNA- and heme-binding protein that is involved in the initial step of microRNA (miRNA) biogenesis. Component of the microprocessor complex that is required to process primary miRNA transcripts (pri-miRNAs) to release precursor miRNA (pre-miRNA) in the nucleus. Within the microprocessor complex, DGCR8 function as a molecular anchor necessary for the recognition of pri-miRNA at dsRNA-ssRNA junction and directs DROSHA to cleave 11 bp away form the junction to release hairpin-shaped pre-miRNAs that are subsequently cut by the cytoplasmic DICER to generate mature miRNAs (PubMed:26027739, PubMed:26748718). The heme-bound DGCR8 dimer binds pri-miRNAs as a cooperative trimer (of dimers) and is active in triggering pri-miRNA cleavage, whereas the heme-free DGCR8 monomer binds pri-miRNAs as a dimer and is much less active. Both double-stranded and single-stranded regions of a pri-miRNA are required for its binding (PubMed:15531877, PubMed:15574589, PubMed:15589161, PubMed:16751099, PubMed:16906129, PubMed:16963499, PubMed:17159994). Specifically recognizes and binds N6-methyladenosine (m6A)-containing pri-miRNAs, a modification required for pri-miRNAs processing (PubMed:25799998). Involved in the silencing of embryonic stem cell self-renewal (By similarity).
Additional gene information for DGCR8 Gene
- HGNC(2847)
- Entrez Gene(54487)
- Ensembl(ENSG00000128191)
- OMIM(609030)
- UniProtKB(Q8WYQ5)
- Open Targets Platform(ENSG00000128191)
- Monarch Initiative
- Search for DGCR8 at DataMed
- Search for DGCR8 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DGCR8 Gene
Genomics for DGCR8 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for DGCR8 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 DGCR8 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DGCR8
- Top Transcription factor binding sites by QIAGEN in the DGCR8 gene promoter:
-
- AP-1
- AREB6
- c-Fos
- c-Jun
- c-Myb
- CREB
- deltaCREB
- MyoD
- RORalpha1
Genomic Locations for DGCR8 Gene
Genomic Locations for DGCR8 Gene
- chr22:20,080,232-20,111,877
- (GRCh38/hg38)
- Size:
- 31,646 bases
- Orientation:
- Plus strand
- chr22:20,067,755-20,099,400
- (GRCh37/hg19)
- Size:
- 31,646 bases
- Orientation:
- Plus strand
Genomic View for DGCR8 Gene
Genes around DGCR8 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q11.21 by HGNC
- 22q11.21 by Entrez Gene
- 22q11.21 by Ensembl
DGCR8 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 DGCR8 Gene
Proteins for DGCR8 Gene
-
Protein details for DGCR8 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8WYQ5-DGCR8_HUMAN
- Recommended name:
- Microprocessor complex subunit DGCR8
- Protein Accession:
- Q8WYQ5
- B2R8G1
- Q6DCB2
- Q6MZE9
- Q6Y2L0
- Q96G39
- Q96GP8
- Q9H6L8
- Q9H6T7
- Q9NRW2
Protein attributes for DGCR8 Gene
- Size:
- 773 amino acids
- Molecular mass:
- 86045 Da
- Cofactor:
- Name=heme; Xref=ChEBI:CHEBI:30413;
- Quaternary structure:
-
- Monomer; in absence of heme. Homodimer; the association with heme promotes its dimerization (PubMed:17159994). Component of the microprocessor complex, or pri-miRNA processing protein complex, which is composed of DROSHA and DGCR8 (PubMed:15589161, PubMed:15574589, PubMed:15531877, PubMed:16751099, PubMed:19135890, PubMed:26027739, PubMed:26748718). The microprocessor complex is a heterotrimer; each of the two DROSHA RNase III domains binds one DGCR8 (via C-terminal region) (PubMed:26027739, PubMed:26748718). Interacts with ILF3, NCL and DROSHA (PubMed:17765891). Interacts with CPSF3 and ISY1; this interaction is in an RNA dependent manner (By similarity). Interacts with PUS10; interaction promotes pri-miRNAs processing (PubMed:31819270).
- SequenceCaution:
-
- Sequence=AAO86726.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB15165.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB15238.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for DGCR8 Gene
Protein Expression for DGCR8 Gene
Post-translational modifications for DGCR8 Gene
Other Protein References for DGCR8 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences DGCR8 Antibody
- G Biosciences Immunotag™ DGCR8 Antibody
- NSJ Bioreagents DGCR8 Antibody
- Novus Biologicals Antibodies for DGCR8
-
Abcam antibodies for DGCR8
- Invitrogen Antibodies for DGCR8 (AFLGC-DGCR8)
-
Santa Cruz Biotechnology (SCBT) Antibodies for DGCR8
- Sino Biological Antibodies for DGCR8
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for DGCR8
- Origene Custom Protein Services for DGCR8
-
Abcam proteins for DGCR8
Assay Products
-
Signalway ELISA kits for DGCR8
No data available for DME Specific Peptides for DGCR8 Gene
Domains & Families for DGCR8 Gene
Gene Families for DGCR8 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for DGCR8 Gene
Suggested Antigen Peptide Sequences for DGCR8 Gene
- GenScript: Design optimal peptide antigens:
-
- DiGeorge syndrome critical region 8 (DGCR8_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8WYQ5UniProtKB/Swiss-Prot:
DGCR8_HUMAN :- Both DRBM domains are required for efficient binding to pri-miRNA. The region between residues 276 and 498 has an autoinhibitory function on pri-miRNA processing activity.
- Domain:
-
- Both DRBM domains are required for efficient binding to pri-miRNA. The region between residues 276 and 498 has an autoinhibitory function on pri-miRNA processing activity.
Function for DGCR8 Gene
Molecular function for DGCR8 Gene
- UniProtKB/Swiss-Prot Function:
- Component of the microprocessor complex that acts as a RNA- and heme-binding protein that is involved in the initial step of microRNA (miRNA) biogenesis. Component of the microprocessor complex that is required to process primary miRNA transcripts (pri-miRNAs) to release precursor miRNA (pre-miRNA) in the nucleus. Within the microprocessor complex, DGCR8 function as a molecular anchor necessary for the recognition of pri-miRNA at dsRNA-ssRNA junction and directs DROSHA to cleave 11 bp away form the junction to release hairpin-shaped pre-miRNAs that are subsequently cut by the cytoplasmic DICER to generate mature miRNAs (PubMed:26027739, PubMed:26748718). The heme-bound DGCR8 dimer binds pri-miRNAs as a cooperative trimer (of dimers) and is active in triggering pri-miRNA cleavage, whereas the heme-free DGCR8 monomer binds pri-miRNAs as a dimer and is much less active. Both double-stranded and single-stranded regions of a pri-miRNA are required for its binding (PubMed:15531877, PubMed:15574589, PubMed:15589161, PubMed:16751099, PubMed:16906129, PubMed:16963499, PubMed:17159994). Specifically recognizes and binds N6-methyladenosine (m6A)-containing pri-miRNAs, a modification required for pri-miRNAs processing (PubMed:25799998). Involved in the silencing of embryonic stem cell self-renewal (By similarity).
Phenotypes From GWAS Catalog for DGCR8 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | IEA | -- |
| GO:0003725 | double-stranded RNA binding | IBA,IDA | 17704815 |
| GO:0004525 | contributes_to ribonuclease III activity | IBA,IDA | 15574589 |
| GO:0005515 | protein binding | IPI | 15574589 |
| GO:0020037 | heme binding | IDA | 24449907 |
Phenotypes for DGCR8 Gene
- MGI mutant phenotypes for DGCR8:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for DGCR8:
Animal Models for DGCR8 Gene
- MGI Knock Outs for DGCR8:
-
- Dgcr8 Dgcr8<tm1.2Blel>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for DGCR8 - Select products 50% OFF >
- * DGCR8 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 DGCR8
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DGCR8
-
Santa Cruz Biotechnology (SCBT) CRISPR for DGCR8
miRNA for DGCR8 Gene
- miRTarBase miRNAs that target DGCR8
-
- mmu-miR-223-3p (MIRT009784)
- hsa-miR-652-3p (MIRT039550)
- hsa-miR-30e-3p (MIRT044120)
- hsa-miR-197-3p (MIRT048068)
- hsa-let-7e-5p (MIRT051420)
- hsa-miR-1237-5p (MIRT736305)
- hsa-miR-183-5p (MIRT738180)
- hsa-miR-328-5p (MIRT741287)
- hsa-miR-4447 (MIRT744641)
- hsa-miR-4472 (MIRT744967)
- hsa-miR-4488 (MIRT745227)
- hsa-miR-4697-5p (MIRT747231)
- hsa-miR-4786-5p (MIRT748871)
- hsa-miR-6722-5p (MIRT753896)
- hsa-miR-6795-5p (MIRT756128)
- hsa-miR-6885-5p (MIRT758537)
- hsa-miR-6887-5p (MIRT758586)
- hsa-miR-7109-5p (MIRT758947)
- hsa-miR-885-3p (MIRT760384)
- hsa-miR-92a-2-5p (MIRT760549)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DGCR8
- Browse OriGene Inhibitory RNA Products For DGCR8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DGCR8
Clone Products
- Applied Biological Materials (abm): Clones for DGCR8 - Select products 50% OFF >
- * DGCR8 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 DGCR8
- Addgene plasmids for DGCR8
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DGCR8
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DGCR8 Gene
Localization for DGCR8 Gene
Subcellular locations from UniProtKB/Swiss-Prot for DGCR8 Gene
- Nucleus. Nucleus, nucleolus. Note=Colocalizes with nucleolin and DROSHA in the nucleolus. Mostly detected in the nucleolus as electron-dense granular patches around the fibrillar center (FC) and granular component (GC). Also detected in the nucleoplasm as small foci adjacent to splicing speckles near the chromatin structure. Localized with DROSHA in GW bodies (GWBs), also known as P-bodies (PubMed:17159994).
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 4 |
| cytoskeleton | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| peroxisome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | 15574589 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005730 | nucleolus | IEA | -- |
| GO:0005737 | cytoplasm | IDA | -- |
| GO:0070877 | microprocessor complex | IBA,IDA | 15574589 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for DGCR8 Gene
Pathways & Interactions for DGCR8 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | HIV Transcription Elongation |
.01
|
|
| 2 | DDX1 as a regulatory component of the Drosha microprocessor |
.33
|
|
| 3 | Translational Control | ||
| 4 | Gene Expression |
.48
|
|
| 5 | Mitotic Prophase | ||
Pathways by source for DGCR8 Gene
4 BioSystems pathways for DGCR8 Gene
3 Reactome pathways for DGCR8 Gene
1 Cell Signaling Technology pathway for DGCR8 Gene
Interacting Proteins for DGCR8 Gene
Selected Interacting proteins:
Q8WYQ5-DGCR8_HUMAN
ENSP00000263209
for DGCR8 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for DGCR8
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0010586 | miRNA metabolic process | TAS | -- |
| GO:0031053 | primary miRNA processing | IBA,IDA | 15531877 |
| GO:0090501 | RNA phosphodiester bond hydrolysis | IEA | -- |
| GO:0090502 | RNA phosphodiester bond hydrolysis, endonucleolytic | IEA | -- |
No data available for SIGNOR curated interactions for DGCR8 Gene
Transcripts for DGCR8 Gene
mRNA/cDNA for DGCR8 Gene
- 2 REFSEQ mRNAs :
- 19 NCBI additional mRNA sequence :
- 10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000351989 4506 nts (view in UCSC)
- ENST00000457069 770 nts (view in UCSC)
- ENST00000495826 4695 nts (view in UCSC)
- ENST00000407755 4129 nts (view in UCSC)
- ENST00000498171 3661 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for DGCR8 - Select products 50% OFF >
- * DGCR8 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 DGCR8
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DGCR8
-
Santa Cruz Biotechnology (SCBT) CRISPR for DGCR8
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DGCR8
- Browse OriGene Inhibitory RNA Products For DGCR8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DGCR8
Clone Products
- Applied Biological Materials (abm): Clones for DGCR8 - Select products 50% OFF >
- * DGCR8 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 DGCR8
- Addgene plasmids for DGCR8
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DGCR8
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c | · | 11d | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14a | · | 14b | · | 14c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: |
Relevant External Links for DGCR8 Gene
- GeneLoc Exon Structure for
- DGCR8
Expression for DGCR8 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
This gene is overexpressed in Heart (27.0), Adrenal (24.8), and Placenta (8.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DGCR8 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DGCR8
SOURCE GeneReport for Unigene cluster for DGCR8 Gene:
Hs.643452mRNA Expression by UniProt/SwissProt for DGCR8 Gene:
Q8WYQ5-DGCR8_HUMAN
Tissue specificity:
Ubiquitously expressed.
Evidence on tissue expression from TISSUES for DGCR8 Gene
- Heart(4.8)
- Nervous system(4.8)
- Muscle(4.6)
- Liver(4.5)
- Skin(2.9)
- Kidney(2.8)
- Intestine(2.7)
- Lymph node(2.5)
- Thyroid gland(2.5)
- Lung(2.4)
- Bone marrow(2.4)
- Spleen(2.4)
- Pancreas(2.4)
- Blood(2.4)
- Stomach(2.2)
- Adrenal gland(2.1)
Primer Products
-
OriGene qPCR primer pairs for DGCR8
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DGCR8 Gene
Orthologs for DGCR8 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ptr-mir-1306 31 |
|
OneToOne | |
| DGCR8 30 |
|
||||
| Dog (Canis familiaris) |
Mammalia | cfa-mir-1306 31 |
|
OneToOne | |
| DGCR8 30 |
|
||||
| Cow (Bos Taurus) |
Mammalia | bta-mir-1306 31 |
|
OneToOne | |
| DGCR8 30 |
|
||||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | DGCR8 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Dgcr8 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Dgcr8 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | DGCR8 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | gga-mir-1306 31 |
|
OneToOne | |
| DGCR8 30 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | aca-mir-5417 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dgcr8 30 |
|
||
| Str.18110 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.19878 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | dgcr8 30 31 |
|
OneToOne | |
| wufc23f08 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.7506 30 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002554 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | pasha 30 31 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | pash-1 31 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for DGCR8 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- 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)
Evolution for DGCR8 Gene
- ENSEMBL:
- Gene Tree for DGCR8 (if available)
- TreeFam:
- Gene Tree for DGCR8 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for DGCR8: view image
Paralogs for DGCR8 Gene
(1) SIMAP similar genes for DGCR8 Gene using alignment to 3 proteins:
- DGCR8_HUMAN
- C9JSD5_HUMAN
- L8E8Q8_HUMAN
No data available for Paralogs for DGCR8 Gene
Variants for DGCR8 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DGCR8 Gene
| SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 691428 | Uncertain Significance: Pyloric stenosis; Esophageal atresia | 20,090,205(+) | G/A | MISSENSE_VARIANT | |
| 713544 | Likely Benign: not provided | 20,086,392(+) | C/T | SYNONYMOUS_VARIANT | |
| 717116 | Likely Benign: not provided | 20,106,670(+) | G/A | SYNONYMOUS_VARIANT | |
| 719552 | Likely Benign: not provided | 20,091,425(+) | T/C | INTRON_VARIANT | |
| 725855 | Likely Benign: not provided | 20,086,401(+) | G/A | SYNONYMOUS_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1291e212 | CNV | loss | 25503493 |
| dgv4480n100 | CNV | gain | 25217958 |
| dgv726n67 | CNV | gain | 20364138 |
| dgv72n68 | CNV | loss | 17160897 |
| dgv7983n54 | CNV | gain | 21841781 |
| dgv7985n54 | CNV | loss | 21841781 |
| esv2758825 | CNV | loss | 17122850 |
| esv3647284 | CNV | gain | 21293372 |
| esv3893434 | CNV | gain | 25118596 |
| nsv1072199 | CNV | deletion | 25765185 |
| nsv471183 | CNV | loss | 18288195 |
| nsv521042 | CNV | loss | 19592680 |
| nsv828938 | CNV | gain | 20364138 |
| nsv828939 | CNV | loss | 20364138 |
| nsv834133 | CNV | loss | 17160897 |
| nsv953027 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
15.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.44;
54.66% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for DGCR8 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DGCR8 Gene
Disorders for DGCR8 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| digeorge syndrome |
|
|
| intracortical osteogenic sarcoma |
|
|
| chromosomal deletion syndrome |
|
|
| x-linked hereditary ataxia |
|
|
| fragile x-associated tremor/ataxia syndrome |
|
|
Search DGCR8 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for DGCR8
- 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 DGCR8 Gene
Publications for DGCR8 Gene
- Posttranscriptional crossregulation between Drosha and DGCR8. (PMID: 19135890) Han J … Kim VN (Cell 2009) 3 4 23
- Single nucleotide polymorphisms of microRNA machinery genes modify the risk of renal cell carcinoma. (PMID: 19047128) Horikawa Y … Wu X (Clinical cancer research : an official journal of the American Association for Cancer Research 2008) 3 23 41
- The Microprocessor complex mediates the genesis of microRNAs. (PMID: 15531877) Gregory RI … Shiekhattar R (Nature 2004) 3 4 23
- Molecular cloning and expression analysis of a novel gene DGCR8 located in the DiGeorge syndrome chromosomal region. (PMID: 12705904) Shiohama A … Shimizu N (Biochemical and biophysical research communications 2003) 3 4 23
- Functional Anatomy of the Human Microprocessor. (PMID: 26027739) Nguyen TA … Woo JS (Cell 2015) 3 4
ExternalLinks
Products for DGCR8 Gene
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- Signalway ELISA kits for DGCR8
Sources for DGCR8 Gene
- (1) GeneCards
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- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
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