C3orf70 Gene: Function, Expression, Mutations, and Disease Associations | Biomedical Database Review

C3orf70 (Chromosome 3 Open Reading Frame 70) is a protein-coding gene located on the long arm of chromosome 3 (3q29). The gene spans approximately 8.5 kilobases and contains 5 exons. The encoded protein is 244 amino acids long with a predicted molecular weight of ~27 kDa. While the precise molecular function remains under investigation, bioinformatic analyses suggest the presence of a coiled-coil domain, indicating potential involvement in protein-protein interactions. C3orf70 has been identified as a potential oncogene in several cancer types, with studies showing elevated expression in hepatocellular carcinoma and colorectal cancer, where it may promote cell proliferation and migration. The gene is also implicated in developmental processes, with expression detected in various fetal tissues. Further research is needed to fully elucidate its biological roles and downstream signaling pathways.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• AKT/mTOR signaling pathway (inferred from cancer studies)

• Epithelial-mesenchymal transition (EMT) pathway (inferred from colorectal cancer studies)

The C3orf70 protein (UniProt Q5VU43) is a 244-amino-acid polypeptide with a predicted coiled-coil domain, suggesting involvement in protein-protein interactions. It is localized predominantly in the cytoplasm. While its exact biochemical function is unknown, studies indicate it may act as a regulatory protein in signaling cascades related to cell growth and motility. The protein is expressed at low levels in normal tissues but is upregulated in several cancers, where it appears to promote tumor progression. Structural predictions suggest it may interact with other signaling molecules, but experimental validation is required. No enzymatic activity or transmembrane domains have been identified.