TRA2B Gene – Function, Mutations, and Disease Associations | NCBI, UniProt, ClinVar

TRA2B (Transformer-2 protein homolog beta) encodes a member of the serine/arginine (SR)-like family of splicing factors. The protein contains an RNA recognition motif (RRM) and an RS domain, and it regulates alternative splicing of pre-mRNAs by binding to specific exonic splicing enhancer sequences. TRA2B is involved in the splicing of genes critical for cell cycle control, apoptosis, and differentiation. Dysregulation of TRA2B expression or function has been linked to various cancers, including breast, lung, and colorectal cancer, as well as to neurodegenerative diseases such as spinal muscular atrophy.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Alternative splicing (Reactome: R-HSA-72163)

• mRNA Splicing – Major Pathway (Reactome: R-HSA-72172)

• SMN2 splicing regulation (KEGG: hsa05012)

TRA2B is a 273-amino-acid protein (UniProt P62995) with a molecular weight of approximately 30 kDa. It contains an N-terminal RNA recognition motif (RRM) that binds to GAA-rich exonic splicing enhancers, and a C-terminal arginine/serine-rich (RS) domain that mediates protein-protein interactions with other splicing factors. TRA2B shuttles between the nucleus and cytoplasm and is involved in both constitutive and alternative splicing. Its expression is highest in testis, with moderate levels in brain and lung. Post-translational modifications, including phosphorylation of the RS domain, regulate its activity and subcellular localization.