Symbol
| DGCR8
| contributors: mct/npt/pgu - updated : 19-04-2017
|
HGNC name
| microprocessor complex subunit
|
HGNC id
| 2847
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
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constitutional
|  
|  
|  
| loss of function
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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
|  
|  
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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 | |
Variant & Polymorphism
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| |
Candidate gene
Marker
Therapy target
|
System | Type | Disorder | Pubmed |
cancer | reproductive | breast | |
may serve as future therapeutic target in
invasive ductal breast carcinoma (IDC) |
| | | |
| 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 |