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Aliases for PIK3R2 Gene

Aliases for PIK3R2 Gene

  • Phosphoinositide-3-Kinase, Regulatory Subunit 2 (Beta) 2 3
  • Phosphatidylinositol 3-Kinase 85 KDa Regulatory Subunit Beta 3 4
  • PtdIns-3-Kinase Regulatory Subunit P85-Beta 3 4
  • PI3K Regulatory Subunit Beta 3 4
  • PI3-Kinase Subunit P85-Beta 3 4
  • Phosphatidylinositol 3-Kinase, Regulatory Subunit, Polypeptide 2 (P85 Beta) 3
  • PtdIns-3-Kinase Regulatory Subunit Beta 4
  • PI3-Kinase Regulatory Subunit Beta 4
  • P85-BETA 3
  • MPPH1 3
  • MPPH 3
  • P85B 3
  • P85 3

External Ids for PIK3R2 Gene

Previous GeneCards Identifiers for PIK3R2 Gene

  • GC19P018760
  • GC19P018658
  • GC19P018108
  • GC19P018127
  • GC19P018089
  • GC19P018263
  • GC19P017828

Summaries for PIK3R2 Gene

Entrez Gene Summary for PIK3R2 Gene

  • Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2012]

GeneCards Summary for PIK3R2 Gene

PIK3R2 (Phosphoinositide-3-Kinase, Regulatory Subunit 2 (Beta)) is a Protein Coding gene. Diseases associated with PIK3R2 include megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 and megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus. Among its related pathways are PI3K-Akt signaling pathway and PI3K/AKT Signaling in Cancer. GO annotations related to this gene include protein heterodimerization activity and receptor tyrosine kinase binding. An important paralog of this gene is PIK3R3.

UniProtKB/Swiss-Prot for PIK3R2 Gene

  • Regulatory subunit of phosphoinositide-3-kinase (PI3K), a kinase that phosphorylates PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Binds to activated (phosphorylated) protein-tyrosine kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Indirectly regulates autophagy (PubMed:23604317). Promotes nuclear translocation of XBP1 isoform 2 in a ER stress- and/or insulin-dependent manner during metabolic overloading in the liver and hence plays a role in glucose tolerance improvement (By similarity).

Tocris Summary for PIK3R2 Gene

  • PI 3-Kinases (phosphoinositide 3-kinases, PI 3-Ks) are a family of lipid kinases capable of phosphorylating the 3'OH of the inositol ring of phosphoinositides. They are responsible for coordinating a diverse range of cell functions including proliferation and survival.

Gene Wiki entry for PIK3R2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIK3R2 Gene

Genomics for PIK3R2 Gene

Regulatory Elements for PIK3R2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PIK3R2 Gene

Chromosome:
19
Start:
18,153,118 bp from pter
End:
18,170,540 bp from pter
Size:
17,423 bases
Orientation:
Plus strand

Genomic View for PIK3R2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PIK3R2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIK3R2 Gene

Proteins for PIK3R2 Gene

  • Protein details for PIK3R2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00459-P85B_HUMAN
    Recommended name:
    Phosphatidylinositol 3-kinase regulatory subunit beta
    Protein Accession:
    O00459
    Secondary Accessions:
    • Q5EAT5
    • Q9UPH9

    Protein attributes for PIK3R2 Gene

    Size:
    728 amino acids
    Molecular mass:
    81545 Da
    Quaternary structure:
    • Heterodimer of a regulatory subunit PIK3R2 and a p110 catalytic subunit (PIK3CA, PIK3CB or PIK3CD) (PubMed:23604317). Interacts with AXL (PubMed:9178760). Interacts with FLT1 (tyrosine-phosphorylated) and FLT4 (tyrosine-phosphorylated) (PubMed:9600074, PubMed:15102829). Interacts with NYAP1, NYAP2 and MYO16 (By similarity). Interacts with FBXL2; PIK3R2 is a substrate of the SCF(FBXL2) complex (PubMed:23604317). Interacts with PTPN13; dephosphorylates PIK3R2 (PubMed:23604317). Interacts with XBP1 isoform 2; the interaction is direct and induces translocation of XBP1 isoform 2 into the nucleus in a ER stress-and/or insulin-dependent but PI3K-independent manner (By similarity). Interacts with PIK3R1; the interaction is dissociated in an insulin-dependent manner (By similarity).

    Three dimensional structures from OCA and Proteopedia for PIK3R2 Gene

neXtProt entry for PIK3R2 Gene

Proteomics data for PIK3R2 Gene at MOPED

Post-translational modifications for PIK3R2 Gene

  • Phosphorylated in response to signaling from activated receptor-type protein kinases (PubMed:19690332, PubMed:20068231). Dephosphorylated by PTPRJ (PubMed:18348712). Dephosphorylated at Tyr-655 by PTPN13. Phosphorylation of Tyr-655 impairs while its dephosphorylation promotes interaction with FBXL2 and SCF(FBXL2)-mediated polyubiquitination (PubMed:23604317).
  • Ubiquitinated. Polyubiquitination by the SCF(FBXL2) complex probably promotes proteasomal degradation of PIK3R2.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PIK3R2 Gene

Antibody Products

  • R&D Systems Antibodies for PIK3R2 (PI 3-Kinase p85 beta)
  • Cell Signaling Technology (CST) Antibodies for PIK3R2 (PIK3R2)

No data available for DME Specific Peptides for PIK3R2 Gene

Domains & Families for PIK3R2 Gene

Gene Families for PIK3R2 Gene

Graphical View of Domain Structure for InterPro Entry

O00459

UniProtKB/Swiss-Prot:

P85B_HUMAN :
  • The SH2 2 domain is required for interaction with FBXL2 and PTPN13.
  • Belongs to the PI3K p85 subunit family.
Domain:
  • The SH2 2 domain is required for interaction with FBXL2 and PTPN13.
  • Contains 1 Rho-GAP domain.
  • Contains 2 SH2 domains.
  • Contains 1 SH3 domain.
Family:
  • Belongs to the PI3K p85 subunit family.
genes like me logo Genes that share domains with PIK3R2: view

Function for PIK3R2 Gene

Molecular function for PIK3R2 Gene

GENATLAS Biochemistry:
phosphatidylinositol 3-kinase (p85 beta),regulatory subunit,class IA adaptor molecule associating 110-120kDa catalytic subunits,interacting with tyrosine kinase (signal transduction),interacting with inositol polyphosphatase 4-phosphatase and inositol polyphosphatase 5-phosphatase,expressed in B and T cells
UniProtKB/Swiss-Prot Function:
Regulatory subunit of phosphoinositide-3-kinase (PI3K), a kinase that phosphorylates PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Binds to activated (phosphorylated) protein-tyrosine kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Indirectly regulates autophagy (PubMed:23604317). Promotes nuclear translocation of XBP1 isoform 2 in a ER stress- and/or insulin-dependent manner during metabolic overloading in the liver and hence plays a role in glucose tolerance improvement (By similarity).

Gene Ontology (GO) - Molecular Function for PIK3R2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 7537096
GO:0016303 contributes_to 1-phosphatidylinositol-3-kinase activity ISS --
GO:0019903 protein phosphatase binding IPI 23604317
GO:0030971 receptor tyrosine kinase binding IPI 10627473
GO:0046935 1-phosphatidylinositol-3-kinase regulator activity IBA --
genes like me logo Genes that share ontologies with PIK3R2: view
genes like me logo Genes that share phenotypes with PIK3R2: view

Animal Models for PIK3R2 Gene

MGI Knock Outs for PIK3R2:

miRNA for PIK3R2 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PIK3R2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PIK3R2 Gene

Localization for PIK3R2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PIK3R2 Gene COMPARTMENTS Subcellular localization image for PIK3R2 gene
Compartment Confidence
cytosol 4
nucleus 4
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PIK3R2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005829 cytosol TAS --
GO:0005942 phosphatidylinositol 3-kinase complex IBA --
genes like me logo Genes that share ontologies with PIK3R2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PIK3R2 Gene

Pathways & Interactions for PIK3R2 Gene

SuperPathways for PIK3R2 Gene

Superpath Contained pathways
1 Interleukin receptor SHC signaling
2 PI3K/AKT Signaling in Cancer
3 IL-7 Signaling Pathways
4 IL-2 Pathway
5 Translation Insulin regulation of translation
genes like me logo Genes that share pathways with PIK3R2: view

PCR Array Products

SIGNOR curated interactions for PIK3R2 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PIK3R2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001678 cellular glucose homeostasis ISS --
GO:0006644 phospholipid metabolic process TAS --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0007165 signal transduction --
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with PIK3R2: view

Drugs & Compounds for PIK3R2 Gene

(37) Drugs for PIK3R2 Gene - From: DGIdb, ApexBio, DrugBank, Tocris, NovoSeek, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isoproterenol Approved Pharma Full agonist, Agonist, Target, agonist 15
3-Methyladenine Experimental Pharma Class III PI3K inhibitor, Class III PI 3-kinase inhibitor; also inhibits autophagy 0
XL147 Investigational Pharma inhibitor PI3K inhibitor,selective and reversible, Kinase Inhibitors, Phosphatidylinositol-3- kinase (PI-3K) inhibitors 0
SF1126 Investigational Pharma inhibitor, Target Kinase Inhibitors 0
GSK2636771 Pharma inhibitor PIK3 inhibitor, Kinase Inhibitors 0

(5) Additional Compounds for PIK3R2 Gene - From: Tocris and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ETP 45658
1198357-79-7
iMDK
881970-80-5
PI 103 hydrochloride
371935-79-4
Phosphatidylinositol
phosphoinositide
genes like me logo Genes that share compounds with PIK3R2: view

Transcripts for PIK3R2 Gene

Unigene Clusters for PIK3R2 Gene

Phosphoinositide-3-kinase, regulatory subunit 2 (beta):
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PIK3R2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PIK3R2 Gene

No ASD Table

Relevant External Links for PIK3R2 Gene

GeneLoc Exon Structure for
PIK3R2
ECgene alternative splicing isoforms for
PIK3R2

Expression for PIK3R2 Gene

mRNA expression in normal human tissues for PIK3R2 Gene

Protein differential expression in normal tissues from HIPED for PIK3R2 Gene

This gene is overexpressed in Breast (38.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PIK3R2 Gene



SOURCE GeneReport for Unigene cluster for PIK3R2 Gene Hs.371344

genes like me logo Genes that share expression patterns with PIK3R2: view

Protein tissue co-expression partners for PIK3R2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PIK3R2 Gene

Orthologs for PIK3R2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PIK3R2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PIK3R2 35
  • 89.86 (n)
  • 96.63 (a)
PIK3R2 36
  • 97 (a)
OneToMany
dog
(Canis familiaris)
Mammalia PIK3R2 35
  • 90.49 (n)
  • 96.78 (a)
-- 36
  • 97 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Pik3r2 35
  • 84.15 (n)
  • 89.59 (a)
Pik3r2 16
Pik3r2 36
  • 90 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia PIK3R2 35
  • 99.86 (n)
  • 100 (a)
PIK3R2 36
  • 100 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Pik3r2 35
  • 83.26 (n)
  • 88.75 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 67 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 73 (a)
OneToMany
chicken
(Gallus gallus)
Aves PIK3R2 35
  • 73.12 (n)
  • 74.36 (a)
-- 36
  • 71 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 76 (a)
ManyToMany
-- 36
  • 70 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia pik3r2 35
  • 62.25 (n)
  • 64.32 (a)
zebrafish
(Danio rerio)
Actinopterygii pik3r2 35
  • 64.94 (n)
  • 63.98 (a)
pik3r2 36
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Pi3K21B 36
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea aap-1 36
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 23 (a)
OneToMany
Species with no ortholog for PIK3R2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PIK3R2 Gene

ENSEMBL:
Gene Tree for PIK3R2 (if available)
TreeFam:
Gene Tree for PIK3R2 (if available)

Paralogs for PIK3R2 Gene

Paralogs for PIK3R2 Gene

(4) SIMAP similar genes for PIK3R2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with PIK3R2: view

Variants for PIK3R2 Gene

Sequence variations from dbSNP and Humsavar for PIK3R2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs13006 -- 18,169,835(+) CCTCC(A/T)AACCC utr-variant-3-prime, nc-transcript-variant
rs124216 -- 18,154,876(+) gtttg(C/G)gacca intron-variant
rs273269 -- 18,168,828(+) CTGAG(C/T)GGCAA synonymous-codon, reference, nc-transcript-variant
rs273270 -- 18,168,716(+) CGCCC(C/G)CCACC intron-variant
rs273271 -- 18,168,329(+) AGCCA(C/G)GTCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PIK3R2 Gene

Variant ID Type Subtype PubMed ID
nsv833773 CNV Loss 17160897
dgv3771n71 CNV Loss 21882294
dgv3772n71 CNV Loss 21882294
nsv911244 CNV Gain 21882294
dgv3773n71 CNV Loss 21882294
nsv833774 CNV Loss 17160897
nsv833775 CNV Loss 17160897
dgv3774n71 CNV Loss 21882294
nsv2429 CNV Loss 18451855
nsv911254 CNV Loss 21882294
dgv3775n71 CNV Loss 21882294
nsv911256 CNV Loss 21882294
dgv3776n71 CNV Loss 21882294
esv2677454 CNV Deletion 23128226

Variation tolerance for PIK3R2 Gene

Residual Variation Intolerance Score: 7.73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.18; 51.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PIK3R2 Gene

HapMap Linkage Disequilibrium report
PIK3R2
Human Gene Mutation Database (HGMD)
PIK3R2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIK3R2 Gene

Disorders for PIK3R2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PIK3R2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
  • meg-pmg-megacc syndrome
megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
  • mpph syndrome
megalencephaly
  • macrencephaly
hydrocephalus
  • hydrocephalus, nonsyndromic, autosomal recessive
- elite association

UniProtKB/Swiss-Prot

P85B_HUMAN
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (MPPH1) [MIM:603387]: A syndrome characterized by megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome. {ECO:0000269 PubMed:22729224}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PIK3R2

Genetic Association Database (GAD)
PIK3R2
Human Genome Epidemiology (HuGE) Navigator
PIK3R2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIK3R2
genes like me logo Genes that share disorders with PIK3R2: view

No data available for Genatlas for PIK3R2 Gene

Publications for PIK3R2 Gene

  1. Structural insights into phosphoinositide 3-kinase activation by the influenza A virus NS1 protein. (PMID: 20133840) Hale B.G. … Russell R.J. (Proc. Natl. Acad. Sci. U.S.A. 2010) 23 67
  2. p85beta phosphoinositide 3-kinase regulates CD28 coreceptor function. (PMID: 19190244) AlcA!zar I. … Carrera A.C. (Blood 2009) 23 67
  3. SH3 domain of the phosphatidylinositol 3-kinase regulatory subunit is responsible for the formation of a sequestration complex with insulin receptor substrate-1. (PMID: 17991427) Ikegami Y. … Katayama S. (Biochem. Biophys. Res. Commun. 2008) 23 67
  4. Increased P85alpha is a potent negative regulator of skeletal muscle insulin signaling and induces in vivo insulin resistance associated with growth hormone excess. (PMID: 16166093) Barbour L.A. … Draznin B. (J. Biol. Chem. 2005) 23 67
  5. Activation of PI3K-Akt pathway mediates antiapoptotic effects of beta-adrenergic agonist in airway eosinophils. (PMID: 15618457) Machida K. … Nakanishi Y. (Am. J. Physiol. Lung Cell Mol. Physiol. 2005) 25 26

Products for PIK3R2 Gene

Sources for PIK3R2 Gene

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