HERC2

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]

Description

HECT and RLD domain containing E3 ubiquitin protein ligase 2

Tissue specificity

Low tissue specificity

Subcell location

Plasma membrane, Cytosol

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

15 (28111040 - 28322179)

Ensembl ID

ENSG00000128731  (ver. 103.38)

Orthologs

Mouse Herc2: ENSMUSG00000030451

UniProt

O95714

neXtProt

NX_O95714

Human splice variants
Mouse splice variants

Protein structure