rs4748812
This is a intron variant variant in the PIP4K2A gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶BMI1 enhancer polymorphism underlies chromosome 10p12.31 association with childhood acute lymphoblastic leukemiaAssociationN=15,268Adam J. de Smith et al.(2018)· International Journal of Cancer
Fine-mapping study of childhood acute lymphoblastic leukemia (ALL) associations at chromosome 10p12 in Latino and non-Latino white populations identified independent effects at BMI1 and PIP4K2A loci. rs11591377 (P=2.1×10⁻¹⁰, OR=1.32) in an BMI1 hematopoietic stem cell enhancer shows preferential binding of risk allele to MYBL2 and p300 transcription factors. rs4748812 (P=1.3×10⁻¹⁵, OR=1.36) at PIP4K2A alters RUNX1 binding motif and loops to PIP4K2A promoter.
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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