PXN Gene (Paxillin) – NCBI, Ensembl, UniProt, OMIM, HGNC, ClinVar, COSMIC

The PXN gene encodes paxillin, a 68 kDa focal adhesion adaptor protein that localizes to sites of cell-matrix adhesion. Paxillin functions as a scaffold, integrating signals from integrins and growth factor receptors to regulate cell adhesion, migration, proliferation, and survival. It contains multiple protein interaction domains, including LIM domains and LD motifs, which mediate binding to kinases (e.g., FAK, Src) and other signaling molecules. Dysregulation of PXN expression and phosphorylation is implicated in cancer metastasis, cardiovascular disease, and developmental disorders.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Focal adhesion (KEGG: hsa04510)

• Integrin signaling pathway (Reactome: R-HSA-354192)

• Regulation of actin cytoskeleton (KEGG: hsa04810)

• FAK signaling (Reactome: R-HSA-446353)

• ErbB signaling pathway (KEGG: hsa04012)

Paxillin is a 591-amino acid adaptor protein with an N-terminal LD motif region and four C-terminal LIM domains. It localizes to focal adhesions, where it binds to FAK, Src, vinculin, and other partners. Phosphorylation at Tyr31 and Tyr118 by FAK and Src creates docking sites for SH2 domain-containing proteins, regulating cell spreading and migration. Paxillin also shuttles to the nucleus to modulate gene expression. Its dysregulation is a hallmark of invasive cancers.