HERC2

Overview

HERC2 is an E3 ubiquitin ligase with established roles in DNA damage response and pigmentation (regulating OCA2/MC1R activity). In the context of normal skin biology, its expression marks a high-mutation-burden melanocyte subpopulation with UV-damage signatures.

Alterations observed in the corpus

  • HERC2 is a transcriptomic marker of the HighMut melanocyte subpopulation (high UV mutation burden, enriched in interfollicular epidermis) in a single-cell multi-omic atlas of 297 melanocytes from 31 donors; co-expressed with pigmentation markers MC1R, HMOX1, ABCC2, LIPA, and HLA-DPA1 PMID:39975212.

Cancer types (linked)

  • No cancer-type associations reported in the corpus. Findings are from non-lesional skin of a melanoma patient; no melanoma driver claim is made PMID:39975212.

Co-occurrence and mutual exclusivity

Therapeutic relevance

  • Not reported in the corpus.

Open questions

  • Whether HERC2-expressing HighMut melanocytes represent an intermediate step toward melanoma initiation or are an endpoint of UV-induced field cancerization is not established PMID:39975212.

Sources

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