Statements (29)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeSplicing |
yes
|
gptkbp:associatedWith |
gptkb:oculocutaneous_albinism_type_2
autosomal recessive intellectual disability |
gptkbp:discoveredIn |
1997
|
gptkbp:domain |
gptkb:HECT_domain
RLD domain |
gptkbp:encodes |
gptkb:HECT_and_RLD_domain-containing_E3_ubiquitin-protein_ligase_2
|
gptkbp:Entrez_Gene_ID |
8925
|
gptkbp:expressedIn |
various tissues
|
gptkbp:HGNC_ID |
4869
|
https://www.w3.org/2000/01/rdf-schema#label |
HERC2 gene
|
gptkbp:interactsWith |
gptkb:XPA
gptkb:BRCA1 gptkb:UBE3A |
gptkbp:involvedIn |
DNA repair
protein degradation |
gptkbp:locatedOnChromosome |
gptkb:15q13.1
gptkb:chromosome_15 |
gptkbp:mutationAssociatedWith |
eye color variation
|
gptkbp:OMIM |
605837
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:orthologInMouse |
gptkb:Herc2
|
gptkbp:proteinFamily |
gptkb:HECT_E3_ubiquitin_ligase_family
|
gptkbp:regulates |
ubiquitination
|
gptkbp:UniProtID |
O95714
|
gptkbp:bfsParent |
gptkb:Blue_Eyes
gptkb:Brown_Eyes |
gptkbp:bfsLayer |
6
|