Statements (27)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alias |
RNF63
Makorin ring finger protein 3 |
gptkbp:associatedWith |
gptkb:Prader-Willi_syndrome
central precocious puberty |
gptkbp:discoveredIn |
1999
|
gptkbp:encodes |
makorin ring finger protein 3
|
gptkbp:Entrez_Gene_ID |
23608
|
gptkbp:expressedIn |
gptkb:testis
brain |
gptkbp:fullName |
makorin ring finger protein 3
|
gptkbp:function |
E3 ubiquitin-protein ligase activity
|
gptkbp:geneType |
protein-coding
|
gptkbp:hasRingFingerDomain |
yes
|
gptkbp:HGNC_ID |
gptkb:HGNC:7107
|
https://www.w3.org/2000/01/rdf-schema#label |
MKRN3
|
gptkbp:imprint |
paternal allele expressed
|
gptkbp:imprintedGene |
paternally expressed
|
gptkbp:locatedOnChromosome |
gptkb:chromosome_15
gptkb:15q11-q13 |
gptkbp:mutationAssociatedWith |
familial central precocious puberty
|
gptkbp:OMIM |
603856
|
gptkbp:orthologInMouse |
Mkrn3
|
gptkbp:UniProtID |
Q13064
|
gptkbp:bfsParent |
gptkb:Prader-Willi_syndrome_(paternal_deletion)
gptkb:Prader-Willi_syndrome_critical_region |
gptkbp:bfsLayer |
8
|