HERC2

Identifiers Symbols HERC2; D15F37S1; SHEP1; jdf2; p528 External IDs OMIM: 605837 MGI: 103234 HomoloGene: 3430 GeneCards: HERC2 Gene

Gene Ontology
Molecular function ubiquitin-protein ligase activity
guanyl-nucleotide exchange factor activity
protein binding
zinc ion binding
heme binding
ubiquitin protein ligase binding
SUMO binding
metal ion binding
Cellular component nucleus
cytoplasm
mitochondrial inner membrane
centriole
Biological process DNA repair
intracellular protein transport
response to DNA damage stimulus
spermatogenesis
protein ubiquitination
protein ubiquitination involved in ubiquitin-dependent protein catabolic process
Sources: Amigo / QuickGO
RNA expression pattern More reference expression data Orthologs Species Human Mouse Entrez 8924 15204 Ensembl ENSG00000128731 ENSMUSG00000030451 UniProt O95714 Q4U2R1 RefSeq (mRNA) NM_004667 NM_010418 RefSeq (protein) NP_004658 NP_034548 Location (UCSC) Chr 15:
28.36 – 28.57 Mb Chr 7:
56.05 – 56.23 Mb PubMed search

Probable E3 ubiquitin-protein ligase HERC2 is an enzyme that in humans is encoded by the HERC2 gene.

A mutation in the HERC2 gene adjacent to OCA2, affecting OCA2's expression in the human iris, is found common to nearly all people with blue eyes. It has been hypothesized that all blue eyed humans share a single common ancestor with whom the mutation originated.