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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PIK3R2 Gene

protein-coding   GIFtS: 67
GCID: GC19P018263

Phosphoinositide-3-Kinase, Regulatory Subunit 2 (Beta)

Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Phosphoinositide-3-Kinase, Regulatory Subunit 2 (Beta)1 2     p852
Phosphatidylinositol 3-Kinase 85 KDa Regulatory Subunit Beta2 3     p85-BETA2
PtdIns-3-Kinase Regulatory Subunit P85-Beta2 3     Phosphatidylinositol 3-Kinase Regulatory Subunit Beta2
PI3-Kinase Subunit P85-Beta2 3     Phosphatidylinositol 3-Kinase, Regulatory Subunit, Polypeptide 2 (P85
Beta)2
PI3K Regulatory Subunit Beta2 3     PI3-Kinase Regulatory Subunit Beta3
MPPH2     PtdIns-3-Kinase Regulatory Subunit Beta3
P85B2     

External Ids:    HGNC: 89801   Entrez Gene: 52962   Ensembl: ENSG000001056477   OMIM: 6031575   UniProtKB: O004593   

Export aliases for PIK3R2 gene to outside databases

Previous GC identifers: GC19P018760 GC19P018658 GC19P018108 GC19P018127 GC19P018089 GC19P017828


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and cblc, and among its related super-pathways are IL-9 Signaling Pathways and Development Prolactin receptor signaling. GO annotations related to this gene include receptor tyrosine kinase binding and phosphatidylinositol 3-kinase regulator activity. An important paralog of this gene is PIK3R3.

UniProtKB/Swiss-Prot: P85B_HUMAN, O00459
Function: 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

summary for PIK3R2 Gene:
PI 3-Kinases (phosphoinositide 3-kinases, PI3Ks) are 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, cell survival, degranulation, vesicular trafficking and cell
migration. The PI 3-kinases are grouped into three distinct classes. Class I PI 3-kinases are heteromeric
consisting of a regulatory subunit and a 110 kDA catalytic subunits (3 forms in class 1A : alpha-, beta- and
delta- and one in class 1B : gamma-). PI 3-kinases p110 alpha- and beta- are ubiquitously expressed whilst
p110 delta- expression is associated with leukocytes. Activating mutations in the p110alpha- subunit have
recently been discovered in certain types of cancer cell. Class II PI 3-kinases are large homomeric enzymes
(C2alpha-, beta- and gamma-) that are sensitive to wortmannin (although less sensitive than Class 1 PI
3-kinases) but are resistant to LY 292002. Class III contains just one member, hVps34p, which is thought to
play an important role in both protein sorting and nutrient sensing in concert with the mTOR pathway.

Gene Wiki entry for PIK3R2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.2  NT_011295.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PIK3R2 gene promoter:
         Spz1   Elk-1   SREBP-1c   Egr-1   AP-4   CUTL1   SREBP-1b   CREB   SREBP-1a   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): PIK3R2 promoter sequence
   Search SABiosciences Chromatin IP Primers for PIK3R2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PIK3R2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.2-q13.4   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.11

PIK3R2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PIK3R2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P018263:  view genomic region     (about GC identifiers)

Start:
18,263,626 bp from pter      End:
18,281,350 bp from pter
Size:
17,725 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: P85B_HUMAN, O00459 (See protein sequence)
Recommended Name: Phosphatidylinositol 3-kinase regulatory subunit beta  
Size: 728 amino acids; 81545 Da
Subunit: Heterodimer of a regulatory subunit PIK3R2 and a p110 catalytic subunit (PIK3CA, PIK3CB or PIK3CD).
Interacts with AXL. Interacts with FLT1 (tyrosine-phosphorylated) and FLT4 (tyrosine-phosphorylated). Interacts
with NYAP1, NYAP2 and MYO16
4 PDB 3D structures from and Proteopedia for PIK3R2:
2KT1 (3D)        2XS6 (3D)        3MTT (3D)        3O5Z (3D)    
Secondary accessions: Q5EAT5 Q9UPH9

Explore the universe of human proteins at neXtProt for PIK3R2: NX_O00459

Explore proteomics data for PIK3R2 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated in response to signaling from activated receptor-type protein kinases. Dephosphorylated by PTPRJ
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O00459

  • PIK3R2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PIK3R2 Protein Expression
    REFSEQ proteins: NP_005018.1  
    ENSEMBL proteins: 
     ENSP00000222254   ENSP00000470075   ENSP00000395636  
    Reactome Protein details: O00459
    Human Recombinant Protein Products for PIK3R2: 
    EMD Millipore Purified and/or Recombinant PIK3R2 Protein
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PIK3R2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005829cytosol TAS--
    GO:0005942phosphatidylinositol 3-kinase complex IEA--

    PIK3R2 for ontologies           About GeneDecksing



    PIK3R2 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for PIK3R2 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SH2D: SH2 domain containing

    5 InterPro protein domains:
     IPR008936 Rho_GTPase_activation_prot
     IPR001720 PI3kinase_P85
     IPR001452 SH3_domain
     IPR000980 SH2
     IPR000198 RhoGAP_dom

    Graphical View of Domain Structure for InterPro Entry O00459

    ProtoNet protein and cluster: O00459

    3 Blocks protein domains:
    IPB000198 RhoGAP domain
    IPB000980 SH2 domain signature
    IPB001720 PI3 kinase P85 regulatory subunit signature


    UniProtKB/Swiss-Prot: P85B_HUMAN, O00459
    Similarity: Belongs to the PI3K p85 subunit family
    Similarity: Contains 1 Rho-GAP domain
    Similarity: Contains 2 SH2 domains
    Similarity: Contains 1 SH3 domain


    PIK3R2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: P85B_HUMAN, O00459
    Function: 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

         Genatlas biochemistry entry for PIK3R2:
    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

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16273093
    GO:0016303contributes to 1-phosphatidylinositol-3-kinase activity ISS--
    GO:0030971receptor tyrosine kinase binding IPI10627473
    GO:0035014phosphatidylinositol 3-kinase regulator activity IEA--
         
    PIK3R2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PIK3R2:
     Decreased viability  Increased apoptosis 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pik3r2):
     cardiovascular system  homeostasis/metabolism  muscle  tumorigenesis 

    PIK3R2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pik3r2tm1Lca for PIK3R2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PIK3R2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PIK3R2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PIK3R2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PIK3R2 

    miRNA
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    miRTarBase miRNAs that target PIK3R2:
    hsa-mir-126 (MIRT003894)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PIK3R2
    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate PIK3R2 (see all 15):
    hsa-miR-30c hsa-miR-4271 hsa-miR-3607-3p hsa-miR-3678-5p hsa-miR-30d hsa-miR-4258 hsa-miR-3667-3p hsa-miR-135b
    SwitchGear 3'UTR luciferase reporter plasmidPIK3R2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIK3R2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PIK3R2 About   (see all 165)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Common Cytokine Receptor Gamma-Chain Family Signaling Pathways
    IL-9 Signaling Pathways0.90
    IL-4 Signaling Pathways0.84
    IL-7 Signaling Pathways0.90
    Immune response IL-9 signaling pathway0.42
    IL-21 Signaling Pathways0.90
    Development Thrombopoietin-regulated cell processes0.38
    Common Cytokine Receptor Gamma-Chain Family Signaling Pathways0.90
    IL-9 Pathway0.36
    2Development Prolactin receptor signaling
    Development Prolactin receptor signaling0.39
    Leptin signaling pathway0.35
    Prolactin Signaling Pathway0.39
    Prolactin signaling pathway0.33
    3Focal Adhesion
    Focal Adhesion0.64
    Integrin-mediated cell adhesion0.38
    Focal adhesion0.64
    HGF Pathway0.34
    4Development IGF-RI signaling
    Development IGF-RI signaling0.49
    Development IGF-1 receptor signaling0.48
    Signal transduction AKT signaling0.49
    5Development HGF signaling pathway
    Development HGF signaling pathway0.78
    Apoptosis and survival Role of CDK5 in neuronal death and survival0.37
    Development Neurotrophin family signaling0.45
    Apoptosis and survival NGF signaling pathway0.36
    Development EGFR signaling via small GTPases0.44
    Neurotrophin signaling pathway0.36
    Development PDGF signaling via MAPK cascades0.41
    Apoptosis and survival Anti-apoptotic action of membrane-bound ESR10.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/62 EMD Millipore Pathways for PIK3R2 (see all 62)
        Immune response CD16 signaling in NK cells
    Cell adhesion PLAU signaling
    Cytoskeleton remodeling FAK signaling
    Signal transduction IP3 signaling
    Cytoskeleton remodeling Role of PDGFs in cell migration

    5/12 R&D Systems Pathways for PIK3R2 (see all 12)
        IL-21 Signaling Pathways
    IL-2 Signaling Pathways
    IL-4 Signaling Pathways
    Adipocytokines & Insulin Signaling
    Akt Signaling Pathway

    5/128 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PIK3R2 (see all 128)
        UVB-Induced MAPK Signaling
    Fc-GammaR Pathway
    Toll-Like Receptors Pathway
    Molecular Mechanisms of Cancer
    eIF2 Pathway

    1 Cell Signaling Technology (CST) Pathway for PIK3R2
        PI3K / Akt Signaling

    5/9 Tocris Bioscience Pathways for PIK3R2 (see all 9)
        Akt Pathway
    Insulin Pathway
    Apoptosis Pathway
    NF-kappaB Pathway
    Toll-like Receptor Pathway

    5/63 GeneGo (Thomson Reuters) Pathways for PIK3R2 (see all 63)
        Cytoskeleton remodeling Role of PDGFs in cell migration
    Development FGF-family signaling
    Development CNTF receptor signaling
    Apoptosis and survival Anti-apoptotic action of membrane-bound ESR1
    Development EGFR signaling pathway

    5/30 BioSystems Pathways for PIK3R2 (see all 30)
        MicroRNAs in cardiomyocyte hypertrophy
    Focal Adhesion
    EGFR1 Signaling Pathway
    G13 Signaling Pathway
    Integrin-mediated cell adhesion

    5/72        Reactome Pathways for PIK3R2 (see all 72)
        Nephrin interactions
    IRS-mediated signalling
    Signaling by PDGF
    Downstream Signaling Events Of B Cell Receptor (BCR)
    Signalling by NGF

    3 PharmGKB Pathways for PIK3R2
        Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics
    EGFR Inhibitor Pathway, Pharmacodynamics
    Sorafenib Pharmacodynamics

    5/55         Kegg Pathways  (Kegg details for PIK3R2) (see all 55):
        ErbB signaling pathway
    Chemokine signaling pathway
    HIF-1 signaling pathway
    Phosphatidylinositol signaling system
    mTOR signaling pathway


    PIK3R2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PIK3R2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/367 Interacting proteins for PIK3R2 (O004591, 2, 3 ENSP000002222544) via UniProtKB, MINT, STRING, and/or I2D (see all 367)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ERBB3P218602, 3, ENSP000002671014MINT-74627 MINT-74618 MINT-61512 MINT-74629 MINT-74637 MINT-61520 MINT-74625 MINT-74638 MINT-61513 MINT-74624 MINT-74636 MINT-74633 MINT-61519 MINT-74628 MINT-74626 MINT-74639 MINT-61516 MINT-74635 MINT-74634 MINT-61517 I2D: score=5 STRING: ENSP00000267101
    ERBB2P046262, 3, ENSP000002695714MINT-74622 MINT-74623 MINT-74620 MINT-74631 MINT-74621 MINT-61505 MINT-74632 I2D: score=5 STRING: ENSP00000269571
    GRB2P629931, 3, ENSP000003390074EBI-346930,EBI-401755 I2D: score=5 STRING: ENSP00000339007
    KITP107212, 3, ENSP000002881354MINT-8037279 I2D: score=5 STRING: ENSP00000288135
    YWHABP319462, 3, ENSP000003001614MINT-50949 I2D: score=3 STRING: ENSP00000300161
    About this table

    Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006661phosphatidylinositol biosynthetic process TAS--
    GO:0007165signal transduction ----
    GO:0007173epidermal growth factor receptor signaling pathway TAS--
    GO:0007264small GTPase mediated signal transduction TAS--

    PIK3R2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PIK3R2 for compounds           About GeneDecksing

    EMD Millipore small molecules for PIK3R2:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for PIK3R2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    CZC 24832Selective inhibitor of PI 3-Kinase gamma[1159824-67-5]
    QuercetinNon-selective PI 3-kinase inhibitor[117-39-5]
    PI 103 hydrochloride Inhibitor of PI 3-kinase, mTOR and DNA-PK [371935-74-9]
    AS 605240Potent and selective PI 3-kinase gamma (PI3Kgamma) inhibitor[648450-29-7]
    740 Y-PCell-permeable PI 3-kinase activator[1236188-16-1]

    1 DrugBank Compound for PIK3R2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    IsoproterenolEpinephrine Isopropyl Homolog (see all 14)7683-59-2targetagonist15985706 15527548 15381832 15618457 15110780

    3 Novoseek inferred chemical compound relationships for PIK3R2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylinositol 73.2 15 8388374 (3), 7961856 (3), 9054447 (3), 9819398 (1) (see all 7)
    phosphoinositide 55.5 4 14504291 (3)
    threonine 25.9 1 8388374 (1)

    Search CenterWatch for drugs/clinical trials and news about PIK3R2 / P85B

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PIK3R2 gene: 
    NM_005027.3  

    Unigene Cluster for PIK3R2:

    Phosphoinositide-3-kinase, regulatory subunit 2 (beta)
    Hs.371344  [show with all ESTs]
    Unigene Representative Sequence: NR_073517
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000222254(uc002nia.1 uc002nib.1 uc010ebi.1) ENST00000473973
    ENST00000426902 ENST00000474310 ENST00000600533 ENST00000464016 ENST00000459743

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    BC011917.2 BC014170.2 BC070082.1 BC090249.1 NR_073517.1 X80907.1 

    10 DOTS entries:

    DT.100786670  DT.92448454  DT.112688  DT.95119443  DT.120809034  DT.100786666  DT.100829705  DT.121450173 
    DT.40303890  DT.95119465 

    24/288 AceView cDNA sequences (see all 288):

    BQ673076 AI090878 BQ069629 AW014221 BQ880915 BQ680415 AW298465 CA950648 
    NM_005027 BU190893 AW168551 BM807146 BQ881548 BQ924011 BM263834 BG760335 
    AI355747 CK903025 BU196304 BM468924 BQ677884 AI970563 AA342109 BM908555 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PIK3R2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGGGTTTTG
    PIK3R2 Expression
    About this image


    See PIK3R2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PIK3R2

    SOURCE GeneReport for Unigene cluster: Hs.371344
        SABiosciences Expression via Pathway-Focused PCR Arrays including PIK3R2 (see all 6): 
              mTOR Signaling in human mouse rat
              Insulin Signaling Pathway in human mouse rat
              PI3K-AKT Signaling Pathway in human mouse rat
              EGF / PDGF Signaling Pathway in human mouse rat
              VEGF Signaling in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PIK3R2 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pik3r21 , 5 phosphatidylinositol 3-kinase, regulatory subunit, more1, 5 84.26(n)1
    89.89(a)1
      8 (34.15 cM)5
    187091  NM_008841.21  NP_032867.21 
     707681765 
    chicken
    (Gallus gallus)
    Aves PIK3R21 phosphoinositide-3-kinase, regulatory subunit 2 (beta) 73.01(n)
    74.19(a)
      771142  XM_001233340.2  XP_001233341.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    73(a)
    67(a)
    many ↔ many
    many ↔ many
    AAWZ02040215(987-6935)
    AAWZ02041587(1090-4649)
    zebrafish
    (Danio rerio)
    Actinopterygii pik3r21 phosphoinositide-3-kinase, regulatory subunit, polypeptide more 64.71(n)
    63.81(a)
      404211  NM_212822.1  NP_997987.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pi3K21B6
    Pi3K21B
    28(a)
    1 → many
    2L(297880-305233)
    worm
    (Caenorhabditis elegans)
    Secernentea aap-16
    Protein AAP-1
    19(a)
    1 → many
    I(5107841-5110164)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PIK3R2 gene
    PIK3R32  PIK3R12  ENSG000002681732  
    4 SIMAP similar genes for PIK3R2 using alignment to 6 protein entries:     P85B_HUMAN (see all proteins):
    DKFZp686P05226    PIK3R1    PIK3R3    DKFZp686F1293

    PIK3R2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/453 SNPs in PIK3R2 are shown (see all 453)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0692624
    Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH)4--see VAR_0692622 G R mis40--------
    rs571320351,2
    C--17839707(+) AAAAAAA/-TTAGC 2 -- int11Minor allele frequency- -:0.00NA 2
    rs1884032761,2
    --18193512(+) GTTTCC/TTTGTG 2 -- us2k10--------
    rs1924150871,2
    --18193742(+) TGGGCA/GTTGTC 2 -- us2k10--------
    rs1843023601,2
    --18193758(+) GGGAGC/GTTGAA 2 -- us2k10--------
    rs586951501,2
    C--18193875(+) GCCCAA/C/TTCTGC 2 -- us2k12CSA WA 119
    rs1505555221,2
    --18193924(+) TGGAGC/GGTAGA 2 -- us2k10--------
    rs754307181,2
    C,F--18194089(+) CATGGC/TTCAAA 2 -- us2k12Minor allele frequency- T:0.06CSA WA 120
    rs129772161,2
    C,F--18194174(+) AGCCTC/GCTGCT 2 -- us2k13Minor allele frequency- G:0.33NA 6
    rs1167559541,2
    C,F--18194296(+) CTGTAA/GCCCAG 2 -- us2k11Minor allele frequency- G:0.03WA 118

    HapMap Linkage Disequilibrium report for PIK3R2 (18263626 - 18281350 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/14 variations for PIK3R2 (see all 14):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2677454CNV Deletion23128226
    dgv3775n71CNV Loss21882294
    nsv911256CNV Loss21882294
    nsv911254CNV Loss21882294
    nsv833773CNV Loss17160897
    dgv3773n71CNV Loss21882294
    nsv833774CNV Loss17160897
    dgv3772n71CNV Loss21882294
    dgv3776n71CNV Loss21882294
    dgv3771n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): PIK3R2
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603157    OMIM disorders: --

    UniProtKB/Swiss-Prot: P85B_HUMAN, O00459
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) [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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/36 diseases for PIK3R2 (see all 36):    About MalaCards
    megalencephaly    cblc    trypanosomiasis    toxoplasmosis
    chagas disease    gout    wiskott-aldrich syndrome    measles
    polycythemia    chronic myeloid leukemia    kaposi's sarcoma    myeloid leukemia
    huntington's disease    multiple myeloma    influenza    acute myeloid leukemia
    myeloma    insulin resistance    hepatitis c    renal cell carcinoma


    PIK3R2 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for PIK3R2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    colon carcinoma 39.2 2 9822674 (1), 11042696 (1)

    Genetic Association Database (GAD): PIK3R2
    Human Genome Epidemiology (HuGE) Navigator: PIK3R2 (4 documents)

    Export disorders for PIK3R2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PIK3R2 gene, integrated from 9 sources (see all 153):
    (articles sorted by number of sources associating them with PIK3R2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Chromosomal localization of human p85 alpha, a subunit of phosphatidylinositol 3-kinase, and its homologue p85 beta. (PubMed id 1314371)1, 2, 3 Volinia S.... Waterfield M.D. (1992)
    2. De novo germline and postzygotic mutations in AKT3, PI K3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. (PubMed id 22729224)1, 2 Riviere J.B....Dobyns W.B. (2012)
    3. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (2008)
    4. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. An oncogenic fusion product of the phosphatidylinositol 3-kinase p85beta subunit and HUMORF8, a putative deubiquitinating enzyme. (PubMed id 9582025)1, 2 Janssen J.W.G.... Schulz A.S. (1998)
    7. Intracellular signaling of the Ufo/Axl receptor tyrosine kinase is mediated mainly by a multi-substrate docking-site. (PubMed id 9178760)1, 2 Braunger J....Janssen J.W. (1997)
    8. p85beta phosphoinositide 3-kinase regulates CD28 coreceptor function. (PubMed id 19190244)1, 9 AlcA!zar I....Carrera A.C. (2009)
    9. Expression and characterization of the p85 subunit of the phosphatidylinositol 3-kinase complex and a related p85 beta protein by using the baculovirus expression system. (PubMed id 1334406)1, 9 Gout I....Waterfield M.D. (1992)
    10. Formation of signal transfer complexes between stem cell and platelet-derived growth factor receptors and SH2 domain proteins in vitro. (PubMed id 7537096)1, 9 Herbst R....Ullrich A. (1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5296 HGNC: 8980 AceView: PIK3R2 Ensembl:ENSG00000105647 euGenes: HUgn5296
    ECgene: PIK3R2 Kegg: 5296 H-InvDB: PIK3R2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PIK3R2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PIK3R2 gene:
    Search GeneIP for patents involving PIK3R2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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