ABCC2
Overview
ABCC2 (ATP Binding Cassette Subfamily C Member 2) encodes a multidrug resistance-associated protein involved in cellular efflux transport. In the context of cancer genomics, ABCC2 has been identified as a transcriptomic marker of a UV-mutated melanocyte subpopulation associated with pigmentation and antigen-presentation programs.
Alterations observed in the corpus
- ABCC2 identified as a high-mutational-burden (HighMut) transcriptomic marker in melanocytes, expressed preferentially in UV-exposed epidermal melanocytes with elevated somatic mutational burden (UV-attributable SBS7 signature); distinguishes HighMut from LowMut (neural-crest-like) melanocyte subpopulations in a multimodal single-cell study of 297 melanocytes from human skin PMID:39975212.
Cancer types (linked)
- MEL — ABCC2 marks the HighMut (pigmentation/antigen-presentation) melanocyte state in normal adjacent skin from a melanoma patient; its role in melanoma tumorigenesis beyond being an expression marker is not established in the corpus PMID:39975212.
Co-occurrence and mutual exclusivity
Therapeutic relevance
- No direct therapeutic associations for ABCC2 are reported in the corpus PMID:39975212.
Open questions
- Whether ABCC2 expression in HighMut melanocytes reflects transporter activity that modifies UV damage response or represents a downstream consequence of the pigmentation program is not resolved PMID:39975212.
Sources
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