Statements (28)
| 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
|
| 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
|
| gptkbp:bfsLayer |
6
|
| https://www.w3.org/2000/01/rdf-schema#label |
HERC2 gene
|