PRR5-ARHGAP8 Gene: Function, Expression, and Disease Associations | Biomedical Database

PRR5-ARHGAP8 is a read-through transcript produced by the natural fusion of the PRR5 (proline rich 5) and ARHGAP8 (Rho GTPase activating protein 8) genes, which are located in a head-to-tail orientation on chromosome 22q13.31. This chimeric mRNA is generated by the splicing of exons from both genes, resulting in a transcript that retains the proline-rich N-terminal region of PRR5 and the RhoGAP domain of ARHGAP8. The predicted protein may function as a Rho GTPase-activating protein, potentially regulating cytoskeletal dynamics and cell migration. The biological significance of this read-through transcript is not fully characterized, but it is expressed in various tissues and may have implications in cancer and other diseases.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Rho GTPase cycle

• Signaling by Rho GTPases

• Axon guidance (RhoGAP involvement)

The PRR5-ARHGAP8 protein is a predicted chimeric protein consisting of the N-terminal proline-rich region of PRR5 and the C-terminal RhoGAP domain of ARHGAP8. The RhoGAP domain is responsible for catalyzing the hydrolysis of GTP to GDP on Rho family GTPases (e.g., RhoA, Rac1, Cdc42), thereby inactivating them. This activity is crucial for regulating actin cytoskeleton dynamics, cell adhesion, and migration. The proline-rich region may mediate protein-protein interactions, potentially targeting the protein to specific subcellular locations. The exact function of the chimeric protein is not experimentally validated, but it is likely to modulate Rho signaling pathways, with potential implications in cancer metastasis and neuronal development.