Gene HERC2

Also known as

D15F37, MRT38, HECT and RLD domain containing E3 ubiquitin protein ligase 2

Overview

HERC2 (HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 2) encodes a large protein involved in DNA repair and protein trafficking. Most famously, a regulatory variant in HERC2 is the primary genetic determinant of blue versus brown eye color in humans, one of the strongest single-gene effects on a visible human trait.

The rs12913832 polymorphism in intron 86 of HERC2 affects expression of the nearby OCA2 gene, which encodes a melanosomal membrane protein critical for melanin synthesis. The A allele at this position reduces OCA2 expression and is associated with blue eyes, while the G allele is associated with brown eyes. This variant explains the majority of eye color variation in Europeans.

Beyond eye color, HERC2 is involved in DNA damage response, and rare mutations cause a severe neurodevelopmental disorder. Understanding your HERC2 genetic status provides insights into pigmentation genetics and may have implications for UV sensitivity and skin cancer risk.

NutraHacker Raw DNA Analysis Products that include this gene

• Skincare Panel

Upload raw DNA data to get your very own analysis of gene HERC2 through your personalized DNA reports.