PIP4K2A phosphatidylinositol-5-phosphate 4-kinase, type II, alpha [Homo sapiens] - Gene

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Summary

Official Symbol: PIP4K2Aprovided by HGNC
Official Full Name: phosphatidylinositol-5-phosphate 4-kinase, type II, alphaprovided by HGNC
Primary source: HGNC:8997
Locus tag: RP11-301N24.1
See related: Ensembl:ENSG00000150867; HPRD:11931; MIM:603140; Vega:OTTHUMG00000017810
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PIPK; PI5P4KA; PIP5K2A; PIP5KIIA; FLJ13267; PIP5KII-alpha
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. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 10p12.2

Sequence :: Chromosome: 10; NC_000010.10 (22823766..23003503, complement)

See PIP4K2A in Epigenomics, MapViewer

Chromosome 10 - NC_000010.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

The present study demonstrated that expression of PIP4K2A mRNA is significantly increased in LCL derived from patients with schizophrenia
Title: Expression of PIP4K2A in lymphocyte cell lines from a sample of schizophrenia patients with previous evidence for association.
Studies indicate that the gene PIP5K2A was significantly elevated in stroma cells in distant metastasis group, compared to stroma in no distant metastasis group.
Title: In silico ascription of gene expression differences to tumor and stromal cells in a model to study impact on breast cancer outcome.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Family-based analysis of genetic variation underlying psychosis-inducing effects of cannabis: sibling analysis and proband follow-up.
PIP4Kbeta interacts with and modulates nuclear localization of the PIP4Kalpha.
Title: PIP4Kbeta interacts with and modulates nuclear localization of the high-activity PtdIns5P-4-kinase isoform PIP4Kalpha.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
A homogeneous sample of 280 schizophrenia patients and 230 healthy controls of Hungarian, Caucasian descent were genotyped for polymorphisms in schizophrenia candidate genes NRG1, DTNBP1, RGS4, G72/G30, and PIP5K2A.
Title: Association study of NRG1, DTNBP1, RGS4, G72/G30, and PIP5K2A with schizophrenia and symptom severity in a Hungarian sample.
study supports a minor role for PIP4K2A in schizophrenia etiology in the Irish population
Title: Association analysis of the PIP4K2A gene on chromosome 10p12 and schizophrenia in the Irish study of high density schizophrenia families (ISHDSF) and the Irish case-control study of schizophrenia (ICCSS).
PIP5K2A is a novel signaling element in the regulation of EAAT3 activity
Title: PIP5K2A-dependent regulation of excitatory amino acid transporter EAAT3.
PIP4KIIA may be one of the factors related to the regulation of the beta-globin gene expression and the different levels of Hb H in alpha-thalassemic patients
Title: PIP4KIIA and beta-globin: transcripts differentially expressed in reticulocytes and associated with high levels of Hb H in two siblings with Hb H disease.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Association analysis of the PIP4K2A gene on chromosome 10p12 and schizophrenia in the Irish study of high density schizophrenia families (ISHDSF) and the Irish case-control study of schizophrenia (ICCSS).

Submit: New GeneRIF Correction See all (18)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
P48426	Q06187	BTK	HPRD	PubMed
P48426	P63000	RAC1	HPRD	PubMed
P48426	P42680	TEC	HPRD	PubMed
BioGRID:111322	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
1-phosphatidylinositol-4-phosphate 5-kinase activity	NAS Non-traceable Author Statement more info	PubMed
1-phosphatidylinositol-5-phosphate 4-kinase activity	IEA Inferred from Electronic Annotation more info
ATP binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
phosphorylation	NAS Non-traceable Author Statement more info

Component	Evidence Code	Pubs
cellular_component	ND No biological Data available more info
cytoplasm	IEA Inferred from Electronic Annotation more info
nucleus	IEA Inferred from Electronic Annotation more info
plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: phosphatidylinositol 5-phosphate 4-kinase type-2 alpha

Names: phosphatidylinositol 5-phosphate 4-kinase type-2 alpha; PIP5KIII; PIP5KIIalpha; PIP4KII-alpha; PI(5)P 4-kinase type II alpha; PtdIns(4)P-5-kinase B isoform; ptdIns(4)P-5-kinase C isoform; diphosphoinositide kinase 2-alpha; ptdIns(5)P-4-kinase isoform 2-alpha; 1-phosphatidylinositol-4-phosphate kinase; 1-phosphatidylinositol-4-phosphate-5-kinase; 1-phosphatidylinositol 5-phosphate 4-kinase 2-alpha; 1-phosphatidylinositol-5-phosphate 4-kinase 2-alpha; phosphatidylinositol-5-phosphate 4-kinase type-2 alpha; phosphatidylinositol 5-phosphate 4-kinase type II alpha; phosphatidylinositol-4-phosphate 5-kinase, type II, alpha; type II phosphatidylinositol-4-phosphate 5-kinase 53 K isoform

NP_005019.2

EC 2.7.1.149

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_005028.4 → NP_005019.2 phosphatidylinositol 5-phosphate 4-kinase type-2 alpha

Status: REVIEWED

Source sequence(s)

AL513128, BC018034, DB504104

Consensus CDS

CCDS7141.1

UniProtKB/Swiss-Prot

P48426

Related

ENSP00000365757, OTTHUMP00000019300, ENST00000376573, OTTHUMT00000047193

Conserved Domains (1) summary

cl02572
Location:34 – 283
Blast Score: 743

PIPKc; Phosphatidylinositol phosphate kinases (PIPK) catalyze the phosphorylation of phosphatidylinositol phosphate on the fourth or fifth hydroxyl of the inositol ring, to form phosphatidylinositol bisphosphate. CD alignment includes type II ...

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000010.10 Reference GRCh37.p5 Primary Assembly

Range

22823766..23003503, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000142.1 Alternate HuRef

Range

22484658..22664398, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL157707.12	CAI39583.1
		CAI39584.1
		CAI39585.1
genomic	AL390318.20	CAH70526.1
genomic	AL513128.11	CAH72211.1
genomic	CH471072.2	EAW86140.1
		EAW86141.1
genomic	EF445009.1	ACA06044.1
		ACA06045.1
mRNA	AK023329.1	None
mRNA	AK294817.1	BAG57933.1
mRNA	AK294867.1	BAG57970.1
mRNA	BC018034.1	AAH18034.1
mRNA	DB504104.1	None
mRNA	S78798.1	AAB35041.1
mRNA	U14957.2	AAA64835.2