RNF103-CHMP3 Gene: Function, Expression, and Disease Associations

RNF103-CHMP3 is a readthrough gene located on chromosome 2p11.2 that produces a naturally occurring fusion transcript combining sequences from the RNF103 (ring finger protein 103) and CHMP3 (charged multivesicular body protein 3) genes. The resulting protein is predicted to retain functional domains from both parent proteins, potentially linking ubiquitination (via RNF103) with endosomal sorting and multivesicular body biogenesis (via CHMP3). This readthrough event is supported by transcript evidence in NCBI and Ensembl.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• ESCRT-III pathway (via CHMP3 domain)

• Ubiquitin-proteasome pathway (via RNF103 domain)

The RNF103-CHMP3 readthrough protein is a fusion of the N-terminal RING finger domain from RNF103 and the C-terminal CHMP3 domain. The RNF103 portion is predicted to function as an E3 ubiquitin ligase, while the CHMP3 domain is a core component of the ESCRT-III complex involved in membrane budding and endosomal sorting. The fusion protein may coordinate ubiquitination with ESCRT-mediated cargo sorting, though its precise biological role remains under investigation.