MCTP2 gene encodes an integral membrane protein consisting of multiple C2 domains. While the protein is yet to be fully characterized, it is known to bind to calcium ions and is believed to be involved in calcium-mediated signaling.

The gene has been suggested to play a role in Coarctation of the Aorta, a congenital malformation characterized by left heart obstructive defects. This has been further supported by animal studies; knockdown of Mctp2 in Xenopus embryos results in cardiac anomalies such as an absent endocardial cushion and abnormal outflow tract development. Heterozygous mutations in the gene, such as large deletions, duplications and missense variants, have been linked to Coarctation of the Aorta. However, recent studies have also identified homozygous MCTP2 mutations in affected individuals.