rs7088318
This is a intron variant variant in the PIP4K2A gene.
▶Research that mentions this SNP (1)
▶Association of TLX1 gene polymorphisms with the risk of acute lymphoblastic leukemia and B lineage acute lymphoblastic leukemia in Han Chinese childrenAssociationN=458Endian Mei et al.(2020)· Journal of Clinical Laboratory Analysis
This case-control study examined six TLX1 gene SNPs in 217 childhood acute lymphoblastic leukemia (ALL) cases and 241 controls from Han Chinese. rs17113735 showed increased ALL risk (OR 3.01, 95% CI 1.33-6.79, P=0.006) while rs946328 showed decreased risk (OR 0.64, 95% CI 0.42-0.98, P=0.039). For B-cell ALL specifically, rs17113735 increased risk (OR 2.94, 95% CI 1.29-6.72, P=0.008) and rs2075879 decreased risk (OR 0.66, 95% CI 0.44-0.99, P=0.044).
About PIP4K2A
Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. [provided by RefSeq, Jul 2008]
View all PIP4K2A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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