|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
hair color
eye color
skin pigmentation
|
|
gptkbp:discoveredIn
|
1999
|
|
gptkbp:encodes
|
gptkb:HECT-type_E3_ubiquitin-protein_ligase_HERC2
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000102901
8924
|
|
gptkbp:expressedIn
|
gptkb:testis
brain
various tissues
|
|
gptkbp:fullName
|
gptkb:HECT_and_RLD_domain_containing_E3_ubiquitin_protein_ligase_2
|
|
gptkbp:function
|
protein binding
ubiquitin-protein transferase activity
regulation of protein ubiquitination
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasSNP
|
gptkb:rs12913832
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:4867
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Herc2
|
|
gptkbp:interactsWith
|
gptkb:RNF8
gptkb:p53
gptkb:UBE3A
|
|
gptkbp:length
|
148,138 base pairs
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_15
|
|
gptkbp:locusType
|
gptkb:15q13.1
|
|
gptkbp:mutationAssociatedWith
|
gptkb:Angelman-like_syndrome
autosomal recessive mental retardation
|
|
gptkbp:OMIM
|
605837
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Herc2
|
|
gptkbp:UniProtID
|
O95714
|
|
gptkbp:bfsParent
|
gptkb:HERC2_gene
gptkb:HERC2
|
|
gptkbp:bfsLayer
|
7
|