rs2073859
This is a downstream gene variant variant in the LIMK2 gene.
▶Research that mentions this SNP (1)
▶LIMK2 acts as an oncogene in bladder cancer and its functional SNP in the microRNA‐135a binding site affects bladder cancer riskAssociationN=240Wei Wang et al.(2019)· International Journal of Cancer
This case-control association study of 139 bladder cancer patients and 101 controls found that the SNP rs2073859 (G-to-A allele) in the 3' UTR of LIMK2, within a miR-135a binding site, is associated with increased bladder cancer risk (AA vs GG: OR 3.09, 95% CI 1.30-7.35, p=0.018). The A allele was also associated with higher clinical grade and stage. Functional studies demonstrated LIMK2 overexpression in most BC tissues and cell lines, with the A allele producing higher LIMK2 mRNA expression.
About LIMK2
There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. The protein encoded by this gene is phosphorylated and activated by ROCK, a downstream effector of Rho, and the encoded protein, in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. It is thought that this pathway contributes to Rho-induced reorganization of the actin cytoskeleton. At least three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
View all LIMK2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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