RBMS3 Gene: Function, Expression, Mutations, and Disease Associations

RBMS3 (RNA Binding Motif Single Stranded Interacting Protein 3) is a protein-coding gene located on chromosome 3p24.1. It encodes a member of the RNA-binding motif (RRM) family of proteins that bind single-stranded RNA and DNA. RBMS3 is involved in post-transcriptional regulation, including mRNA splicing, stability, and translation. It has been implicated in various cancers, where it may act as a tumor suppressor or oncogene depending on context. The gene is also associated with developmental processes and cellular differentiation.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Wnt signaling pathway (Reactome: R-HSA-195721)

• PI3K/Akt signaling pathway (Reactome: R-HSA-1257604)

• Epithelial-mesenchymal transition (Reactome: R-HSA-1266738)

The RBMS3 protein contains two RNA recognition motifs (RRMs) that mediate binding to single-stranded RNA and DNA. It is predominantly nuclear and participates in post-transcriptional gene regulation, including alternative splicing and mRNA stability. RBMS3 has been shown to interact with other RNA-binding proteins and transcription factors. Its expression is frequently downregulated in various cancers, suggesting a tumor-suppressive role. The protein is also involved in normal development, particularly in the nervous system and reproductive tissues.