KHDRBS2


Description

The KHDRBS2 (KH RNA binding domain containing, signal transduction associated 2) is a protein-coding gene located on chromosome 6.

KHDRBS2 is an RNA-binding protein that plays a crucial role in regulating alternative splicing. It influences the selection of mRNA splice sites and the inclusion of exons. KHDRBS2 binds to both poly(A) and poly(U) homopolymers. Its RNA-binding ability is inhibited upon phosphorylation by PTK6. This protein directly interacts with purine-rich exonic enhancers, leading to increased exon incorporation in CD44 pre-mRNA in a concentration-dependent manner. KHDRBS2 can also regulate the alternative splicing of NRXN1, specifically in the laminin G-like domain 6, which contains the evolutionary conserved neurexin alternative spliced segment 4 (AS4). This segment is crucial for neurexin's selective targeting to postsynaptic partners. KHDRBS2's action on NRXN1 splicing at AS4 is cell-type specific. It works synergistically with SAM68 in exon skipping but antagonistically with SAM68 in NRXN3 exon skipping at AS4. Its ability to regulate splice site selection is inhibited by phosphorylation through FYN. Additionally, KHDRBS2 might function as an adapter protein for Src kinases during mitosis.

KHDRBS2 is also known as KHDRBS2-OT, KHDRBS2-OT1, SLM-1, SLM1.

Associated Diseases



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