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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Uncertain significance rs2519304140 RCV003128065
DGCR8-related disorder Uncertain significance; Likely benign rs140782334, rs780692891, rs111669527, rs146678770 RCV003928998
RCV003921567
RCV003893952
RCV003951947
See cases Conflicting classifications of pathogenicity rs148884257 RCV002253021
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
22q11 Deletion Syndrome Associate 33581109
Acute Coronary Syndrome Associate 27519051
Adenocarcinoma Follicular Associate 34171097
Angina Stable Associate 27519051
Autism Spectrum Disorder Associate 31500805
Breast Neoplasms Associate 22639842, 24574065, 28598829, 31858552, 32196606
Carcinogenesis Associate 36499151
Carcinoma Hepatocellular Associate 21319996, 23398123
Carcinoma Squamous Cell Associate 26867589
Congenital Microtia Associate 37107637