PI4K2B phosphatidylinositol 4-kinase type 2 beta [Homo sapiens] - Gene

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Summary

Official Symbol: PI4K2Bprovided by HGNC
Official Full Name: phosphatidylinositol 4-kinase type 2 betaprovided by HGNC
Primary source: HGNC:18215
See related: Ensembl:ENSG00000038210; HPRD:15132; MIM:612101; Vega:OTTHUMG00000128564
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PIK42B; PI4KIIB; FLJ11105
Summary: Phosphatidylinositol 4-kinases (PI4Ks) phosphorylate phosphatidylinositol to generate phosphatidylinositol 4-phosphate (PIP), an immediate precursor of several important signaling and scaffolding molecules. PIP itself may also have direct functional and structural roles. PI4K2B is a primarily cytosolic PI4K that is recruited to membranes, where it stimulates phosphatidylinositol 4,5-bisphosphate synthesis (Wei et al., 2002 [PubMed 12324459]).[supplied by OMIM, Jun 2008]

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Genomic context

Location :: 4p15.2

Sequence :: Chromosome: 4; NC_000004.11 (25235653..25280831)

See PI4K2B in Epigenomics, MapViewer

Chromosome 4 - NC_000004.11 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?

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.
There is no evidence to suggest that PI4K2B is contributing to bipolar disorder in this family but a role for this gene in schizophrenia has not been excluded.
Title: A case-control association study and family-based expression analysis of the bipolar disorder candidate gene PI4K2B.
Observational study of gene-disease association. (HuGE Navigator)
Title: A case-control association study and family-based expression analysis of the bipolar disorder candidate gene PI4K2B.
LB-PI4K2B-1S-specific CD4(+) T cells contributed to the antitumor response by both directly eliminating malignant cells as effector cells and stimulating CD8(+) T cell immunity as helper cells.
Title: Identification of phosphatidylinositol 4-kinase type II beta as HLA class II-restricted target in graft versus leukemia reactivity.
Type II PtdIns 4-kinase beta interacts with TCR-CD3 zeta chain. The C-terminal ITAM is critical for enzyme docking on the zeta chain. The association is tyrosyl phosphorylation dependent. Mutation of Y-151 & Y-142 disrupts interaction of the 2 proteins.
Title: Type II phosphatidylinositol 4-kinase beta associates with TCR-CD3 zeta chain in Jurkat cells.
UV irradiation increases nuclear PtdIns5P levels via inhibition of the activity of the beta isoform of PtdIns5P 4-kinase (PIP4Kbeta), an enzyme that can phosphorylate and remove PtdIns5P.
Title: Nuclear PtdIns5P as a transducer of stress signaling: an in vivo role for PIP4Kbeta.

Submit: New GeneRIF Correction

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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
Phosphatidylinositol 4 kinase type II beta	P41180	CASR	HPRD	PubMed
Phosphatidylinositol 4 kinase type II beta	P20963	CD247	HPRD	PubMed
BioGRID:120587	BioGRID:106710	AKT1	BioGRID	PubMed	Two-hybrid
BioGRID:120587	BioGRID:109552	HSP90AA1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:120587	BioGRID:107819	MAPK14	BioGRID	PubMed	Biochemical Activity
BioGRID:120587	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
1-phosphatidylinositol 4-kinase activity	IEA Inferred from Electronic Annotation more info
ATP binding	IEA Inferred from Electronic Annotation more info
kinase activity	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

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: phosphatidylinositol 4-kinase type 2-beta

Names: phosphatidylinositol 4-kinase type 2-beta; PI4KII-BETA; phosphatidylinositol 4-kinase type II-beta; phosphatidylinositol 4-kinase type-II beta

NP_060793.2

EC 2.7.1.67

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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_018323.3 → NP_060793.2 phosphatidylinositol 4-kinase type 2-beta

Status: VALIDATED

Source sequence(s)

AC108218, AY091514, BC051749

Consensus CDS

CCDS3433.1

UniProtKB/Swiss-Prot

Q8TCG2

Related

ENSP00000264864, OTTHUMP00000158714, ENST00000264864, OTTHUMT00000250415

Conserved Domains (1) summary

cl00119
Location:167 – 415
Blast Score: 371

PI3Kc_like; Phosphoinositide 3-kinase (PI3K)-like family, catalytic domain; The PI3K-like catalytic domain family is part of a larger superfamily that includes the catalytic domains of other kinases such as the typical serine/threonine/tyrosine protein kinases (PKs), ...

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_000004.11 Reference GRCh37.p5 Primary Assembly

Range

25235653..25280831

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000136.1 Alternate HuRef

Range

24575970..24620982

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC104662.3 (81811..120457)	None
genomic	AC108218.3	None
genomic	CH471069.1	EAW92836.1
genomic	HB386249.1	CAZ64455.1
mRNA	AF411320.1	AAL04154.1
mRNA	AK001967.1	BAA92006.1
mRNA	AK023186.1	None
mRNA	AK128622.1	BAG54701.1
mRNA	AK296302.1	BAG59002.1
mRNA	AY065990.1	AAL47580.1
mRNA	AY091514.1	AAM12049.1
mRNA	BC031014.1	None
mRNA	BC051749.1	AAH51749.1