Gene Gene information from NCBI Gene database.
Entrez ID 54487
Gene name DGCR8 microprocessor complex subunit
Gene symbol DGCR8
Synonyms (NCBI Gene)
C22orf12DGCRK6Gy1pasha
Chromosome 22
Chromosome location 22q11.21
Summary 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 micr
miRNA miRNA information provided by mirtarbase database.
187
miRTarBase ID miRNA Experiments Reference
MIRT051420 hsa-let-7e-5p CLASH 23622248
MIRT048068 hsa-miR-197-3p CLASH 23622248
MIRT044120 hsa-miR-30e-3p CLASH 23622248
MIRT039550 hsa-miR-652-3p CLASH 23622248
MIRT735015 hsa-miR-126-5p Luciferase reporter assayWestern blottingImmunoprecipitaion (IP)Immunohistochemistry (IHC)ImmunofluorescenceqRT-PCR 33098220
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding IEA
GO:0003725 Function Double-stranded RNA binding IBA
GO:0003725 Function Double-stranded RNA binding IDA 17704815
GO:0005515 Function Protein binding IPI 15574589, 19626115, 22222205, 22796965, 23602568, 23995758, 24581491, 25416956, 26321680, 26496610, 33961781, 35914814, 39251607
GO:0005634 Component Nucleus IDA 15574589
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609030 2847 ENSG00000128191
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WYQ5
Protein name Microprocessor complex subunit DGCR8 (DiGeorge syndrome critical region 8)
Protein 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 transcrip
PDB 1X47 , 2YT4 , 3LE4 , 5B16 , 6LXD , 6LXE , 6V5B , 6V5C , 7CNC , 9ASM , 9ASN , 9ASO , 9ASP , 9ASQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00035 dsrm 512 576 Double-stranded RNA binding motif Domain
PF00035 dsrm 620 684 Double-stranded RNA binding motif Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:12705904}.
Sequence
METDESPSPLPCGPAGEAVMESRARPFQALPREQSPPPPLQTSSGAEVMDVGSGGDGQSE
LPAEDPFNFYGASLLSKGSFSKGRLLIDPNCSGHSPRTARHAPAVRKFSPDLKLLKDVKI
SVSFTESCRSKDRKVLYTGAERDVRAECGLLLSPVSGDVHACPFGGSVGDGVGIGGESAD
KKDEENELDQEKRVEYAVLDELEDFTDNLELDEEGAGGFTAKAIVQRDRVDEEALNFPYE
DDFDNDVDALLEEGLCAPKKRRTEEKYGGDSDHPSDGETSVQPMMTKIKTVLKSRGRPPT
EPLPDGWIMTFHNSGVPVYLHRESRVVTWSRPYFLGTGSIRKHDPPLSSIPCLHYKKMKD
NEEREQSSDLTPSGDVSPVKPLSRSAELEFPLDEPDSMGADPGPPDEKDPLGAEAAPGAL
GQVKAKVEVCKDESVDLEEFRSYLEKRFDFEQVTVKKFRTWAERRQFNREMKRKQAESER
PILPANQKLITLSVQDAPTKKEFVINPNGKSEVCILHEYMQRVLKVRPVYNFFECENPSE
PFGASVTIDGVTYGSGTASSKKLAKNKAARATLEIL
IPDFVKQTSEEKPKDSEELEYFNH
ISIEDSRVYELTSKAGLLSPYQILHECLKRNHGMGDTSIKFEVVPGKNQKSEYVMACGKH
TVRGWCKNKRVGKQLASQKILQLL
HPHVKNWGSLLRMYGRESSKMVKQETSDKSVIELQQ
YAKKNKPNLHILSKLQEEMKRLAEEREETRKKPKMSIVASAQPGGEPLCTVDV
Sequence length 773
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    MicroRNA (miRNA) biogenesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Autism spectrum disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DGCR8-related disorder Uncertain significance; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIGEORGE SYNDROME CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
22q11 Deletion Syndrome 22q11 deletion syndrome BEFREE 23055483
★☆☆☆☆
Found in Text Mining only
22q11 Deletion Syndrome 22q11 deletion syndrome Pubtator 33581109 Associate
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 27519051
★☆☆☆☆
Found in Text Mining only
Angina Stable Angina pectoris Pubtator 27519051 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 31500805 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Behavior Disorders Behavior Disorders CTD_human_DG 18469815
★☆☆☆☆
Found in Text Mining only
Bilateral Wilms Tumor Wilms tumor CTD_human_DG 28825729
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 31228940
★☆☆☆☆
Found in Text Mining only
Blepharophimosis Blepharophimosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone Disease BEFREE 28739418
★☆☆☆☆
Found in Text Mining only