PIK3C2B phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: PIK3C2Bprovided by HGNC
Official Full Name: phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 betaprovided by HGNC
Primary source: HGNC:HGNC:8972
See related: Ensembl:ENSG00000133056 MIM:602838; AllianceGenome:HGNC:8972
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: C2-PI3K
Summary: The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in lymph node (RPKM 8.8), skin (RPKM 7.4) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q32.1

Exon count:: 36

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (204422633..204494805, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (203687208..203759206, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (204391761..204463933, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.
Title: Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.
The molecular mechanisms mediating class II PI 3-kinase function in cell physiology.
Title: The molecular mechanisms mediating class II PI 3-kinase function in cell physiology.
Higher PIK3C2B gene expression of H1N1+ specific B-cells is associated with lower H1N1 immunogenicity after trivalent influenza vaccination in HIV infected children.
Title: Higher PIK3C2B gene expression of H1N1+ specific B-cells is associated with lower H1N1 immunogenicity after trivalent influenza vaccination in HIV infected children.
Data reveal a novel role for the class II PI3K PI3K-C2beta during mitosis progression.
Title: Downregulation of class II phosphoinositide 3-kinase PI3K-C2β delays cell division and potentiates the effect of docetaxel on cancer cell growth.
PI3K-C2alpha and PI3K-C2beta play differential, indispensable roles in clathrin-mediated pinocytosis.
Title: The class II phosphoinositide 3-kinases PI3K-C2α and PI3K-C2β differentially regulate clathrin-dependent pinocytosis in human vascular endothelial cells.
this study suggests that PIK3C2B might only have a minor role in SQCC oncogenesis
Title: Questioning the role of selected somatic PIK3C2B mutations in squamous non-small cell lung cancer oncogenesis.
PI3KC2B-silencing inhibits early stages of neuroblastoa tumorigenic growth.
Title: Phosphatidylinositol 3-kinase, class 2 beta (PI3KC2β) isoform contributes to neuroblastoma tumorigenesis.
Class II enzyme PI3K-C2beta and the class IB isozyme p110gamma mainly regulate the S1P- and high density lipoprotein (HDL)-dependent endothelial cell (EC) migration and PI3K-C2alpha primarily controls EC survival
Title: Class II phosphoinositide 3-kinases contribute to endothelial cells morphogenesis.
Data suggest a novel role for nucleotide-free Ras in cell signaling in which PI3KC2beta stabilizes nucleotide-free Ras and that interaction of Ras and PI3KC2beta mutually inhibit one another.
Title: A new dimension to Ras function: a novel role for nucleotide-free Ras in Class II phosphatidylinositol 3-kinase beta (PI3KC2β) regulation.
The results of this study showed that strong association between PIK3C2B gene alternation and high-grade oligodendroglial tumors.
Title: Identification of a novel population in high-grade oligodendroglial tumors not deleted on 1p/19q using array CGH.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association studies identify four ER negative-specific breast cancer risk loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 upregulates the expression of IL-6 and IL-8 via the p38 signaling pathway and the PI3K/Akt signaling pathway in astrocytes	PubMed
	env	HIV-1 gp120-induced PI3-kinase activity and calcium mobilization are inhibited by pertussis toxin and blocking antibodies directed against CCR5 and CXCR4, suggesting that this signaling is mediated through these chemokine receptors	PubMed
	env	CD45 modulates HIV-1 gp120-induced apoptosis by regulating Fas ligand induction and activation of the phosphoinositide 3-kinase/Akt pathway	PubMed
	env	HIV-1 gp120-induced TNF-alpha production by primary human macrophages is mediated by phosphatidylinositol-3 (PI-3) kinase and mitogen-activated protein (MAP) kinase pathways	PubMed
	env	CCR5 activation by gp120 triggers the assembly of endogenous Lyn, PI3K, and Pyk2 and is associated with PI3K and Pyk2 translocation from the cytoplasm to the membrane where they colocalized with Lyn	PubMed
	env	Concomitant activation of Lyn, Pyk2, and class IA PI3K are required for gp120-induced IL-1beta production	PubMed
	env	Insulin-like growth factor-I (IGF-I) and erythropoietin treatment protect against HIV/gp120-mediated neuronal damage in culture and in vivo, in part, through cooperative activation of phosphatidylinositol 3-kinase/Akt/GSK-3beta signaling	PubMed
	env	Pre-treatment of endothelial cells with fibroblast growth factor 2 (FGF2) protects cells from HIV-1 gp120 angiotoxicity; this protection is regulated by crosstalk among the ERK, PI3K-AKT and PKC signaling pathways	PubMed
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 disrupts the association between phospholipase C gamma-1 and phosphoinositide 3 kinase (PI3-kinase), and this effect is dependent on PI3-kinase activity	PubMed
	env	PI3-kinase activation induced by HIV-1 gp160 leads to downregulation of LFA-1-mediated T cell adhesion to B cells	PubMed
Nef	nef	Downregulation of cell surface major histocompatibility complex class I (MHC-I) protein expression by HIV-1 Nef depends on a phosphoinositide 3-kinase (PI3K)-regulated signaling pathway, suggesting an interaction between Nef and PI3K	PubMed
	nef	In the context of Nef-associated kinase complex (NAKC), hnRNP-K interacts with HIV-1 Nef and recruits LCK, PKCdelta, and PI-3 kinase	PubMed
	nef	The presence of HIV-1 Nef in Jurkat cells stimulated with a combination of PMA and anti-CD28 upregulates the levels of PI3K production	PubMed
	nef	The association of phosphatidylinositol (PI) 3-kinase with platelet-derived growth factor (PDGF) activated receptor was downregulated by HIV-1 nef expression	PubMed
Tat	tat	HIV-1 Tat induces phosphorylation of PI3K, AKT, PTEN, and GSK-3beta activating PI3K and AKT and inactivating PTEN and GSK-3beta in vIL-6 expressing cells	PubMed
	tat	HIV-1 Tat-induced upregulation of IDO production requires the activity of IFN-gamma signaling pathway such as JAK and PI3K in human monocyte derived-dendritic cells	PubMed
	tat	Pro-survival effects of intracellular HIV-1 Tat in a microglial cell line is attributed to activation of the PI-3-kinase (PI3K)/Akt pathway via decreasing expression of PTEN, a negative regulator of the PI-3-K pathway	PubMed
	tat	Phosphatidylinositol 3-kinase/Akt signaling pathway is involved in HIV-1 Tat-induced NADPH oxidase stimulation and LTR transactivation	PubMed
	tat	HIV-1 Tat in combination with KSHV kaposin A activates the MEK/ERK, STAT3, and PI3K/Akt signals in NIH3T3 cells	PubMed
	tat	The cysteine to serine mutation at position 31 in HIV-1 clade C Tat results in a marked decrease in IL-10 production in monocytes compared with clade B Tat. p38alpha/p38beta and phosphoinositide 3-kinase are crucial to Tat-induced IL-10 production	PubMed
	tat	HIV-1 Tat activates phosphatidylinositol 3-kinase (PI3K), leading to the activation of Akt/PKB, decreased levels of cAMP and CREB phosphorylation, and the protection of cells from apoptosis	PubMed
	tat	Phosphatidylinositol 3-kinase inhibits HIV-1 Tat-mediated transactivation of the HIV-1 LTR promoter by affecting the formation of the Tat-associated kinase transactivating complex	PubMed
	tat	HIV-1 Tat induced release of MCP-1 from human lung microvascular endothelial cells involves an interaction between Tat and PI3 kinase	PubMed
	tat	Activation of protein kinase C-epsilon by HIV-1 Tat involves an interaction with PI 3-kinase	PubMed
	tat	HIV-1 Tat-mediated cytopathic changes in human brain micro vascular endothelial cells involves its interaction with phosphatidylinositol 3-kinase (PI3K)	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AL009631 (e-PCR)
- UniSTS:64264

A006Z05 (e-PCR)
- UniSTS:15898

D8S2279 (e-PCR)
- UniSTS:473907

WI-11932 (e-PCR)
- UniSTS:41324

SHGC-76195 (e-PCR)
- UniSTS:75655

D11S3114 (e-PCR)
- UniSTS:152207

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 1-phosphatidylinositol-3-kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 1-phosphatidylinositol-3-kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables 1-phosphatidylinositol-4-phosphate 3-kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 1-phosphatidylinositol-4-phosphate 3-kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables 1-phosphatidylinositol-4-phosphate 3-kinase activity	NAS Non-traceable Author Statement more info	PubMed
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in autophagosome organization	IEA Inferred from Electronic Annotation more info
involved_in biological_process	ND No biological Data available more info
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to starvation	IEA Inferred from Electronic Annotation more info
involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylinositol-3-phosphate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylinositol-mediated signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphorylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endocytic vesicle	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta

Names: PI3K-C2-beta; PI3K-C2beta; PTDINS-3-kinase C2 beta; phosphatidylinositol 3-kinase C2 domain-containing beta polypeptide; phosphoinositide 3-kinase-C2-beta; phosphoinositide-3-kinase, class 2, beta polypeptide; ptdIns-3-kinase C2 subunit beta

NP_001364263.1

EC 2.7.1.137

EC 2.7.1.154

NP_001364264.1

EC 2.7.1.137

EC 2.7.1.154

NP_002637.3

EC 2.7.1.137

EC 2.7.1.154

NCBI Reference Sequences (RefSeq)

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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_001377334.1 → NP_001364263.1 phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta isoform 1

Status: REVIEWED

Source sequence(s)

AL606489

Consensus CDS

CCDS1446.1

UniProtKB/Swiss-Prot

O00750, O95666, Q5SW99

UniProtKB/TrEMBL

A2RUF7, Q4LE65

Related

ENSP00000507222.1, ENST00000684373.1

Conserved Domains (6) summary

cd00895
Location:987 → 1340

PI3Kc_C2_beta; Catalytic domain of Class II Phosphoinositide 3-kinase beta

cd07290
Location:1369 → 1477

PX_PI3K_C2_beta; The phosphoinositide binding Phox Homology Domain of the Beta Isoform of Class II Phosphoinositide 3-Kinases

cd04012
Location:622 → 794

C2A_PI3K_class_II; C2 domain first repeat present in class II phosphatidylinositol 3-kinases (PI3Ks)

cd08381
Location:1505 → 1627

C2B_PI3K_class_II; C2 domain second repeat present in class II phosphatidylinositol 3-kinases (PI3Ks)

cd00869
Location:813 → 981

PI3Ka_II; Phosphoinositide 3-kinase (PI3K) class II, accessory domain (PIK domain); PIK domain is conserved in all PI3 and PI4-kinases. Its role is unclear but it has been suggested to be involved in substrate presentation. In general, class II PI3-kinases ...

pfam00794
Location:364 → 466

PI3K_rbd; PI3-kinase family, ras-binding domain
NM_001377335.1 → NP_001364264.1 phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta isoform 2

Status: REVIEWED

Source sequence(s)

AL606489

Consensus CDS

CCDS91148.1

UniProtKB/TrEMBL

B7ZM86, F5GWN5

Related

ENSP00000400561.2, ENST00000424712.6

Conserved Domains (6) summary

cd00895
Location:959 → 1312

PI3Kc_C2_beta; Catalytic domain of Class II Phosphoinositide 3-kinase beta

cd07290
Location:1341 → 1449

PX_PI3K_C2_beta; The phosphoinositide binding Phox Homology Domain of the Beta Isoform of Class II Phosphoinositide 3-Kinases

cd04012
Location:622 → 794

C2A_PI3K_class_II; C2 domain first repeat present in class II phosphatidylinositol 3-kinases (PI3Ks)

cd08381
Location:1477 → 1599

C2B_PI3K_class_II; C2 domain second repeat present in class II phosphatidylinositol 3-kinases (PI3Ks)

pfam00794
Location:364 → 466

PI3K_rbd; PI3-kinase family, ras-binding domain

cl00271
Location:813 → 953

PI3Ka; Phosphoinositide 3-kinase family, accessory domain (PIK domain); PIK domain is conserved in PI3 and PI4-kinases. Its role is unclear, but it has been suggested to be involved in substrate presentation. Phosphoinositide 3-kinases play an important role in ...
NM_002646.4 → NP_002637.3 phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta isoform 1

See identical proteins and their annotated locations for NP_002637.3

Status: REVIEWED

Source sequence(s)

AK308153, AL606489, BC132876, Y11312

Consensus CDS

CCDS1446.1

UniProtKB/Swiss-Prot

O00750, O95666, Q5SW99

UniProtKB/TrEMBL

A2RUF7, Q4LE65

Related

ENSP00000356155.3, ENST00000367187.7

Conserved Domains (6) summary

cd00895
Location:987 → 1340

PI3Kc_C2_beta; Catalytic domain of Class II Phosphoinositide 3-kinase beta

cd07290
Location:1369 → 1477

PX_PI3K_C2_beta; The phosphoinositide binding Phox Homology Domain of the Beta Isoform of Class II Phosphoinositide 3-Kinases

cd04012
Location:622 → 794

C2A_PI3K_class_II; C2 domain first repeat present in class II phosphatidylinositol 3-kinases (PI3Ks)

cd08381
Location:1505 → 1627

C2B_PI3K_class_II; C2 domain second repeat present in class II phosphatidylinositol 3-kinases (PI3Ks)

cd00869
Location:813 → 981

PI3Ka_II; Phosphoinositide 3-kinase (PI3K) class II, accessory domain (PIK domain); PIK domain is conserved in all PI3 and PI4-kinases. Its role is unclear but it has been suggested to be involved in substrate presentation. In general, class II PI3-kinases ...

pfam00794
Location:364 → 466

PI3K_rbd; PI3-kinase family, ras-binding domain