DiGeorge syndrome critical region gene 8
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:abbreviation |
gptkb:DGCR8
|
| gptkbp:alternativeName |
Pasha
|
| gptkbp:associatedWith |
gptkb:DiGeorge_syndrome
|
| gptkbp:chromosomeArm |
gptkb:22q11.21
|
| gptkbp:encodes |
gptkb:Microprocessor_complex_subunit_DGCR8
|
| gptkbp:Entrez_Gene_ID |
54487
|
| gptkbp:expressedIn |
various human tissues
|
| gptkbp:function |
RNA binding
microRNA biogenesis component of Microprocessor complex |
| gptkbp:geneType |
gptkb:gene
|
| gptkbp:HGNC_ID |
28998
|
| https://www.w3.org/2000/01/rdf-schema#label |
DiGeorge syndrome critical region gene 8
|
| gptkbp:locatedOnChromosome |
chromosome 22
|
| gptkbp:mutationAssociatedWith |
microRNA processing defects
|
| gptkbp:OMIM |
609527
|
| gptkbp:orthologInMouse |
Dgcr8
|
| gptkbp:relatedTo |
gptkb:22q11.2_deletion_syndrome
|
| gptkbp:UniProtID |
Q8WYQ5
|
| gptkbp:bfsParent |
gptkb:DGCR8
|
| gptkbp:bfsLayer |
7
|