Synonyms:D15F37S1, ENTREZ:8924, HECT and RLD domain containing E3 ubiquitin protein ligase 2, HERC2, HGNC:4868, MIM:605837, MRT38, NM_004667, NP_004658, SHEP1, XM_005268276, XM_006720726, XM_006720727, XM_017022695, XM_017022696, XM_017022697, XM_017022698, XP_005268333, XP_006720789, XP_006720790, XP_016878184, XP_016878185, XP_016878186, XP_016878187, XR_001751410, XR_931930, jdf2, p528
Omim:OMIM:605837
Id:ENSG00000128731
Hgnc:HGNC:4868
Description:HECT and RLD domain containing E3 ubiquitin protein ligase 2
This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]