PIP4K2A

Phosphatidylinositol-5-phosphate 4-kinase type-2 alpha is an enzyme that in humans is encoded by the PIP4K2A gene.^[5][6][7]

PIP4K2A
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2YBX
Identifiers
Aliases	PIP4K2A, PI5P4KA, PIP5K2A, PIP5KII-alpha, PIP5KIIA, PIPK, phosphatidylinositol-5-phosphate 4-kinase type 2 alpha
External IDs	OMIM: 603140; MGI: 1298206; HomoloGene: 37995; GeneCards: PIP4K2A; OMA:PIP4K2A - orthologs
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10p12.2 Start 22,534,854 bp[1] End 22,714,578 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 A3 Start 18,847,066 bp[2] End 19,002,937 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in inferior olivary nucleus internal globus pallidus inferior ganglion of vagus nerve external globus pallidus corpus callosum pars reticulata C1 segment dorsal motor nucleus of vagus nerve subthalamic nucleus Region I of hippocampus proper Top expressed in deep cerebellar nuclei anterior horn of spinal cord blood facial motor nucleus pontine nuclei thymus substantia nigra globus pallidus spleen medial vestibular nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity nucleotide binding 1-phosphatidylinositol-4-phosphate 5-kinase activity kinase activity phosphatidylinositol phosphate kinase activity ATP binding 1-phosphatidylinositol-3-phosphate 4-kinase activity 1-phosphatidylinositol-5-phosphate 4-kinase activity protein binding Cellular component cytoplasm cytosol membrane plasma membrane autophagosome nucleus nucleoplasm Biological process megakaryocyte development phosphatidylinositol metabolic process positive regulation of autophagosome assembly phosphorylation regulation of autophagy phosphatidylinositol biosynthetic process phosphatidylinositol phosphate biosynthetic process regulation of phosphatidylinositol 3-kinase signaling phospholipid metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5305 18718 Ensembl ENSG00000150867 ENSMUSG00000026737 UniProt P48426 O70172 RefSeq (mRNA) NM_005028 NM_001330062 NM_008845 NM_001355146 NM_001355147 NM_001355148 NM_001355149 RefSeq (protein) NP_001316991 NP_005019 NP_032871 NP_001342075 NP_001342076 NP_001342077 NP_001342078 Location (UCSC) Chr 10: 22.53 – 22.71 Mb Chr 2: 18.85 – 19 Mb PubMed search [3] [4]
Wikidata
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Function

Phosphatidylinositol-4,5-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-4-phosphate on the fifth hydroxyl of the myo-inositol ring to form phosphatidylinositol-4,5-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-4-phosphate 5-kinase family.^[7]

Clinical significance

Through genome wide association studies (GWAS), some of the single nucleotide polymorphisms (SNPs) located in this gene have been noticed to be significantly associated with susceptibility of childhood acute lymphoblastic leukaemia in ethnically diverse populations.^[8][9]

PIP4K2A Inhibitors

THZ-P1-2^[10] (covalent inhibitor) as well as BAY-091 and BAY-297^[11] (reversible inhibitors) have been reported as potent and selective PIP4K2A inhibitors. BAY-091 fulfills the quality criteria for a 'Donated Chemical Probe' as defined by the Structural Genomics Consortium.^[12]