Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol DGCR8 contributors: mct/npt/pgu - updated : 19-04-2017
HGNC name microprocessor complex subunit
HGNC id 2847
ASSOCIATED DISORDERS
corresponding disease(s) DEL22Q11 , DUP22Q11
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
resulted in smaller dendritic spines and simpler dendritic tree and impaired sensorimotor gating and acquisition of a spatial working memory–dependent task
constitutional       loss of function
associated with altered short-term plasticity and is a neural substrate underlying the cognitive dysfunction and the increased risk for schizophrenia associated with the 22q11.2 microdeletions
tumoral       gain of function
may be involved in tumorigenesis and aggressiveness of invasive ductal breast carcinoma (IDC)
constitutional   deletion    
conditional gene deletion of the essential miRNA-processing enzyme Dgcr8 in the developing renal tubular system results in severe developmental defects and kidney failure
constitutional       loss of function
senescence triggered by DGCR8 loss is accompanied by the upregulation of the cell-cycle inhibitor CDKN1A
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
cancerreproductivebreast
may serve as future therapeutic target in invasive ductal breast carcinoma (IDC)
ANIMAL & CELL MODELS
  • Dgcr8+/- mice display reduced expression of a subset of microRNAs in the prefrontal cortex, a deficit that emerges over postnatal development
  • deficiency in Dgcr8-dependent canonical microRNAs causes infertility due to multiple abnormalities during uterine development in mice