Studies have shown that certain activity-boosting mutations in the ion channel TPC2 are associated with fair skin, blond hair, and albinism. These traits make people particularly susceptible to melanoma, as their skin offers less protection against harmful ultraviolet radiation.

Conversely, loss of TPC2 is associated with decreased melanoma risk. The ion channel controls the breakdown of important proteins in endolysosomes—cell organelles that are involved in transport and degradation processes—and thus influences signaling pathways that regulate tumor growth.