Statements (18)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeName |
RPC2
|
gptkbp:associatedWith |
hypomyelinating leukodystrophy 8
|
gptkbp:component |
RNA polymerase III complex
|
gptkbp:encodes |
DNA-directed RNA polymerase III subunit RPC2
|
gptkbp:Entrez_Gene_ID |
51065
|
gptkbp:expressedIn |
various tissues
|
gptkbp:function |
transcription of small RNAs
|
gptkbp:HGNC_ID |
HGNC:30022
|
https://www.w3.org/2000/01/rdf-schema#label |
POLR3B
|
gptkbp:locatedOnChromosome |
gptkb:chromosome_12
|
gptkbp:mutationAssociatedWith |
neurodevelopmental disorders
|
gptkbp:OMIM |
614366
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:orthologInMouse |
Polr3b
|
gptkbp:UniProtID |
Q9H9Y6
|
gptkbp:bfsParent |
gptkb:RNA_polymerase_III
|
gptkbp:bfsLayer |
6
|