C9orf40 Gene: Function, Location, and Disease Associations | Biomedical Database

C9orf40 is a protein-coding gene located on chromosome 9 at q34.3. The gene spans approximately 10 kb and contains multiple exons. The encoded protein is predicted to be localized to the nucleus and may be involved in transcriptional regulation or chromatin remodeling, though its exact function remains largely uncharacterized. Expression data suggest broad but low-level expression across various tissues. No disease associations have been firmly established to date, but ongoing research may reveal roles in cancer or other conditions.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

The C9orf40 protein is predicted to be a nuclear protein of unknown function. It contains no known functional domains, and its structure has not been experimentally determined. Sequence analysis suggests it may be involved in protein-protein interactions, but no binding partners have been confirmed. Further studies are needed to elucidate its biological role.