NDUFC2-KCTD14 Gene: Function, Expression, and Disease Relevance

NDUFC2-KCTD14 is a readthrough transcript that spans the adjacent genes NDUFC2 (NADH:ubiquinone oxidoreductase subunit C2) and KCTD14 (potassium channel tetramerization domain containing 14) on chromosome 11q14.1. This transcript is produced by the splicing of exons from both genes, resulting in a chimeric mRNA that may encode a fusion protein. The NDUFC2 portion encodes a subunit of mitochondrial complex I (NADH dehydrogenase), while the KCTD14 portion contains a BTB/POZ domain typical of potassium channel tetramerization domain-containing proteins. The functional significance of this readthrough is not well characterized, and no protein product has been confirmed in major proteomics databases. The readthrough is predicted to be subject to nonsense-mediated decay (NMD) in some contexts, but may also produce a stable fusion protein under certain conditions. This gene is not currently associated with any specific disease in curated databases.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Not available (no pathway annotations for readthrough)

No protein product has been experimentally verified for the NDUFC2-KCTD14 readthrough transcript. The predicted fusion protein would contain the N-terminal mitochondrial targeting sequence and transmembrane domain of NDUFC2, followed by the BTB/POZ domain of KCTD14. However, due to the lack of experimental evidence, the existence, stability, and function of this protein remain speculative. The readthrough transcript may be a byproduct of transcriptional noise or may have regulatory roles.