Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54487
Gene name Gene Name - the full gene name approved by the HGNC.
DGCR8 microprocessor complex subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DGCR8
Synonyms (NCBI Gene) Gene synonyms aliases
C22orf12, DGCRK6, Gy1, pasha
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q11.21
Summary Summary of gene provided in NCBI Entrez 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 micr
miRNA miRNA information provided by mirtarbase database.
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 assay, Western blotting, Immunoprecipitaion (IP), Immunohistochemistry (IHC), Immunofluorescence, qRT-PCR 33098220
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003725 Function Double-stranded RNA binding IBA 21873635
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
GO:0005634 Component Nucleus IDA 15574589
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609030 2847 ENSG00000128191
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Conotruncal anomaly face syndrome CONOTRUNCAL ANOMALY FACE SYNDROME rs28939675, rs1601294362
Digeorge syndrome DiGeorge Syndrome rs587776825, rs1555895466
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Unknown
Disease term Disease name Evidence References Source
Behavior disorders Behavior Disorders 18469815 ClinVar
Specific learning disorder Specific learning disability ClinVar
Associations from Text Mining
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