Gene: PIP4K2A

Alternate names for this Gene: PI5P4KA|PIP5K2A|PIP5KII-alpha|PIP5KIIA|PIPK

Gene Summary: 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10p12.2

Description of this Gene: phosphatidylinositol-5-phosphate 4-kinase type 2 alpha

Type of Gene: protein-coding

rs7081744 in PIP4K2A gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs370356098 in PIP4K2A gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs7904655 in PIP4K2A gene and Influenza due to Influenza A virus subtype H1N1 PMID 26379185 2015 No Major Host Genetic Risk Factor Contributed to A(H1N1)2009 Influenza Severity.

rs10828317 in PIP4K2A gene and Precursor B-Cell Lymphoblastic Leukemia-Lymphoma PMID 23996088 2013 Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.

PMID 29632299 2018 Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia.

rs11013046 in PIP4K2A gene and Precursor Cell Lymphoblastic Leukemia Lymphoma PMID 23512250 2013 Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations.

PMID 29348612 2018 GWAS in childhood acute lymphoblastic leukemia reveals novel genetic associations at chromosomes 17q12 and 8q24.21.