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Gene Review:

PIP4K2A - phosphatidylinositol-5-phosphate 4-kinase,...

Homo sapiens

Synonyms: 1-phosphatidylinositol 5-phosphate 4-kinase 2-alpha, Diphosphoinositide kinase 2-alpha, PI(5)P 4-kinase type II alpha, PI5P4KA, PIP4KII-alpha, ...

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Psychiatry related information on PIP5K2A

Screening of PIP5K2A promoter region for mutations in bipolar disorder and schizophrenia [1].
Association study between genetic variants at the PIP5K2A gene locus and schizophrenia and bipolar affective disorder [2].

High impact information on PIP5K2A

Endocytic cargo protein binding to mu2 leads to a potent stimulation of PIPK activity [3].
In PIPK-induced tails, dynamin is further enriched at the interface between the tails and the moving organelles [4].
Evidence for association of DNA sequence variants in the phosphatidylinositol-4-phosphate 5-kinase IIalpha gene (PIP5K2A) with schizophrenia [5].
PIP5K2A is involved in the biosynthesis of phosphatidylinositol-4,5-bisphosphate (PI(4,5)P2), one of the key metabolic crossroads in phosphoinositide signalling [5].
By extracting sequence information from public databases, we have constructed a contig in bacterial artificial chromosomes (BACs) that extends from HER-2/Neu to a phosphotidylinositol phosphate kinase (PIPK), Pip4k2beta from 17q11-12 [6].

Chemical compound and disease context of PIP5K2A

OBJECTIVE: To analyze the promoter region of PIP5K2A, a phosphatidylinositol 4-phosphate 5-kinase that maps to 10p in a region linked to both bipolar disorder and schizophrenia [1].

Biological context of PIP5K2A

Polymorphism screening of PIP5K2A: a candidate gene for chromosome 10p-linked psychiatric disorders [7].
We investigated association of DNA sequence variants in a plausible candidate gene located in this region, the gene for phosphatidylinositol-4-phosphate 5-kinase IIalpha (PIP5K2A), in a sample of 65 sib-pair families for which linkage had been reported [5].
We failed to detect association to either disorder using PIP5K2A gene variants through single-marker and haplotype analysis [2].

Associations of PIP5K2A with chemical compounds

One gene involved in PI metabolism that maps to a region of interest is 10p12-linked PIP5K2A, a member of the phosphatidylinositol 4-phosphate 5-kinase family [7].
On a cellular level, PIP5K2A is an enzyme component of the metabolism of inositol phosphate, which has been considered a potential target for the therapeutic action of lithium in BPAD patients [2].
Comparisons of serine/threonine protein kinase (PK) and type IIbeta phosphatidylinositol phosphate kinase (PIPK) structures with each other and also with other proteins reveal structural and functional similarity between the two kinases and proteins of the glutathione synthase fold (ATP-grasp) [8].

References

Screening of PIP5K2A promoter region for mutations in bipolar disorder and schizophrenia. Stopkova, P., Vevera, J., Paclt, I., Zukov, I., Papolos, D.F., Saito, T., Lachman, H.M. Psychiatr. Genet. (2005) [Pubmed]
Association study between genetic variants at the PIP5K2A gene locus and schizophrenia and bipolar affective disorder. Jamra, R.A., Klein, K., Villela, A.W., Becker, T., Schulze, T.G., Schmael, C., Deschner, M., Klopp, N., Illig, T., Propping, P., Cichon, S., Rietschel, M., Nöthen, M.M., Schumacher, J. Am. J. Med. Genet. B Neuropsychiatr. Genet. (2006) [Pubmed]
Stimulation of phosphatidylinositol kinase type I-mediated phosphatidylinositol (4,5)-bisphosphate synthesis by AP-2mu-cargo complexes. Krauss, M., Kukhtina, V., Pechstein, A., Haucke, V. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
Dynamin at actin tails. Lee, E., De Camilli, P. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
Evidence for association of DNA sequence variants in the phosphatidylinositol-4-phosphate 5-kinase IIalpha gene (PIP5K2A) with schizophrenia. Schwab, S.G., Knapp, M., Sklar, P., Eckstein, G.N., Sewekow, C., Borrmann-Hassenbach, M., Albus, M., Becker, T., Hallmayer, J.F., Lerer, B., Maier, W., Wildenauer, D.B. Mol. Psychiatry (2006) [Pubmed]
Overexpression of the amplified Pip4k2beta gene from 17q11-12 in breast cancer cells confers proliferation advantage. Luoh, S.W., Venkatesan, N., Tripathi, R. Oncogene (2004) [Pubmed]
Polymorphism screening of PIP5K2A: a candidate gene for chromosome 10p-linked psychiatric disorders. Stopkova, P., Saito, T., Fann, C.S., Papolos, D.F., Vevera, J., Paclt, I., Zukov, I., Stryjer, R., Strous, R.D., Lachman, H.M. Am. J. Med. Genet. B Neuropsychiatr. Genet. (2003) [Pubmed]
Phosphatidylinositol phosphate kinase: a link between protein kinase and glutathione synthase folds. Grishin, N.V. J. Mol. Biol. (1999) [Pubmed]

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PIP4K2A	Bos taurus
PIP4K2A	Canis lupus familiaris
pip4k2aa	Danio rerio
PIP4K2A	Gallus gallus
PIP4K2A	Macaca mulatta
Pip4k2a	Mus musculus
PIP4K2A	Pan troglodytes
Pip4k2a	Rattus norvegicus
pip4k2b	Xenopus (Silurana) tropicalis

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