|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:autism_spectrum_disorder
gptkb:Angelman_syndrome
OCA2 gene regulation
autosomal recessive mental retardation
eye color variation
|
|
gptkbp:discoveredBy
|
Nomura N et al.
|
|
gptkbp:encodes
|
gptkb:HERC2_protein
|
|
gptkbp:Entrez_Gene_ID
|
8925
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:firstDescribed
|
1994
|
|
gptkbp:fullName
|
gptkb:HECT_and_RLD_domain_containing_E3_ubiquitin_protein_ligase_2
|
|
gptkbp:function
|
protein-protein interaction
E3 ubiquitin-protein ligase activity
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:4869
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
HERC2
|
|
gptkbp:interactsWith
|
gptkb:E6AP
gptkb:NEURL4
gptkb:RNF8
gptkb:UBC13
gptkb:USP33
gptkb:BRCA1
gptkb:p53
|
|
gptkbp:involvedIn
|
DNA damage response
ubiquitin-dependent protein catabolic process
regulation of pigmentation
|
|
gptkbp:length
|
4834 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:15q13.1
gptkb:chromosome_15
|
|
gptkbp:molecularWeight
|
~528 kDa
|
|
gptkbp:mutationAssociatedWith
|
can cause intellectual disability
can cause oculocutaneous albinism type 2
|
|
gptkbp:OMIM
|
605837
|
|
gptkbp:orthologInMouse
|
gptkb:Herc2
|
|
gptkbp:proteinFamily
|
gptkb:HECT_domain
RLD domain
ZZ-type zinc finger
|
|
gptkbp:regulates
|
OCA2 expression
|
|
gptkbp:relatedTo
|
DNA repair
ubiquitin pathway
pigmentation
neurological development
|
|
gptkbp:species
|
gptkb:Homo_sapiens
|
|
gptkbp:UniProtID
|
O95714
|
|
gptkbp:bfsParent
|
gptkb:chromosome_15
|
|
gptkbp:bfsLayer
|
6
|