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

PIK3C2A Gene

protein-coding   GIFtS: 61
GCID: GC11M017099

phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit...

(Previous names: phosphoinositide-3-kinase, class 2, alpha polypeptide )
 Explore 180 diseases affiliated with
PIK3C2A via our new
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Biological research products
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Phosphatidylinositol-4-Phosphate 3-Kinase, Catalytic Subunit Type 2
Alpha1 2
     CPK2
PI3K-C2alpha1 2     PI3-K-C2(ALPHA)2
Phosphoinositide-3-Kinase, Class 2, Alpha Polypeptide1 2     PI3-K-C2A2
Phosphoinositide 3-Kinase-C2-Alpha2 3     C2-Containing Phosphatidylinositol Kinase2
PtdIns-3-Kinase C2 Subunit Alpha2 3     Phosphatidylinositol 4-Phosphate 3-Kinase C2 Domain-Containing Subunit Alpha2
PI3K-C2-Alpha1     Phosphatidylinositol-4-Phosphate 3-Kinase C2 Domain-Containing Subunit Alpha2
EC 2.7.1.1543 8     EC 2.7.18

External Ids:    HGNC: 89711   Entrez Gene: 52862   Ensembl: ENSG000000114057   OMIM: 6036015   UniProtKB: O004433   

Export aliases for PIK3C2A gene to outside databases

Previous GC identifers: GC11M018181 GC11M018055 GC11M017147 GC11M017075 GC11M017064 GC11M017067 GC11M016791


(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 PIK3C2A:
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 not sensitive to nanomolar levels of the inhibitor wortmanin. This protein was shown to be
able to be activated by insulin and may be involved in integrin-dependent signaling. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: P3C2A_HUMAN, O00443
Function: Generates phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 3,4-bisphosphate
(PtdIns(3,4)P2) that act as second messengers. Has a role in several intracellular trafficking events. Functions in
insulin signaling and secretion. Required for translocation of the glucose transporter SLC2A4/GLUT4 to the plasma
membrane and glucose uptake in response to insulin-mediated RHOQ activation. Regulates insulin secretion through two
different mechanisms: involved in glucose-induced insulin secretion downstream of insulin receptor in a pathway that
involves AKT1 activation and TBC1D4/AS160 phosphorylation, and participates in the late step of insulin granule
exocytosis probably in insulin granule fusion. Synthesizes PtdIns3P in response to insulin signaling. Functions in
clathrin-coated endocytic vesicle formation and distribution. Regulates dynamin-independent endocytosis, probably by
recruiting EEA1 to internalizing vesicles. In neurosecretory cells synthesizes PtdIns3P on large dense core vesicles.
Participates in calcium induced contraction of vascular smooth muscle by regulating myosin light chain (MLC)
phosphorylation through a mechanism involving Rho kinase-dependent phosphorylation of the MLCP-regulatory subunit
MYPT1. May play a role in the EGF signaling cascade. May be involved in mitosis and UV-induced damage response.
Required for maintenance of normal renal structure and function by supporting normal podocyte function

summary for PIK3C2A:
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 PIK3C2A


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PIK3C2A gene promoter:
         C/EBPbeta   FOXF2   POU6F1 (c2)   Evi-1   HNF-1A   c-Rel   HNF-1   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPIK3C2A promoter sequence
   Search SABiosciences Chromatin IP Primers for PIK3C2A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PIK3C2A


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

Entrez Gene cytogenetic band: 11p15.5-p14   Ensembl cytogenetic band:  11p15.1   HGNC cytogenetic band: 11p15.5-p14

PIK3C2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PIK3C2A gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M017099:  view genomic region     (about GC identifiers)

Start:
17,099,277 bp from pter      End:
17,229,530 bp from pter
Size:
130,254 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: P3C2A_HUMAN, O00443 (See protein sequence)
Recommended Name: Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha  
Size: 1686 amino acids; 190680 Da
Cofactor: Calcium or magnesium. Manganese cannot be used
Subunit: Part of a complex with ERBB2 and EGFR. Interacts with clathrin trimers
Subcellular location: Cell membrane. Golgi apparatus. Cytoplasmic vesicle, clathrin-coated vesicle. Nucleus. Cytoplasm.
Note=According to PubMed:10766823 and PubMed:11239472, it is found in the cell membrane, the Golgi apparatus and in
clathrin-coated vesicles. According to PubMed:17038310 it inserts preferentially into membranes containing
PtdIns(4,5)P2. According to PubMed:11606566, it is nuclear and cytoplasmic. Associated with RNA-containing structures.
According to PubMed:14563213, it is mainly cytoplasmic
4 PDB 3D structures from and Proteopedia for PIK3C2A:
2AR5 (3D)        2IWL (3D)        2REA (3D)        2RED (3D)    
Secondary accessions: B0LPH2 Q14CQ9

Explore the universe of human proteins at neXtProt for PIK3C2A: NX_O00443

Post-translational modifications:

  • Phosphorylated upon insulin stimulation; which may lead to enzyme activation (By similarity). Phosphorylated on Ser-259
  • during mitosis and upon UV irradiation; which does not change enzymatic activity but leads to proteasomal degradation.
    Ser-259 phosphorylation may be mediated by CDK1 or JNK, depending on the physiological state of the cell1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O00443

  • 4/11 DME Specific Peptides for PIK3C2A (O00443) (see all 11)
     KRDRAPF  DLRQDML  DRHNDNIM  GVTGSFKD 

    PIK3C2A Protein expression data from MOPED and PaxDb:    About this image 
    PIK3C2A Protein Expression
    REFSEQ proteins: NP_002636.2  
    ENSEMBL proteins: 
     ENSP00000265970   ENSP00000436244   ENSP00000436969   ENSP00000438687  
    Reactome Protein details: O00443
    Human Recombinant Protein Products for PIK3C2A: 
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    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IEA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA--

    PIK3C2A for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PIK3C2A for domains           About GeneDecksing

    5/12 InterPro domains/families (see all 12):
     IPR001263 PInositide-3_kin_accessory_dom
     IPR002420 PI3K_C2_dom
     IPR001683 Phox
     IPR011009 Kinase-like_dom
     IPR018029 C2_membr_targeting

    Graphical View of Domain Structure for InterPro Entry O00443

    ProtoNet protein and cluster: O00443

    3 Blocks protein families:
    IPB000008 C2 domain
    IPB000341 Phosphoinositide 3-kinase
    IPB000403 Phosphatidylinositol 3- and 4-kinase


    UniProtKB/Swiss-Prot: P3C2A_HUMAN, O00443
    Similarity: Belongs to the PI3/PI4-kinase family
    Similarity: Contains 1 C2 domain
    Similarity: Contains 1 C2 PI3K-type domain
    Similarity: Contains 1 PI3K-RBD domain
    Similarity: Contains 1 PI3K/PI4K domain
    Similarity: Contains 1 PIK helical domain
    Similarity: Contains 1 PX (phox homology) domain


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: P3C2A_HUMAN, O00443
    Function: Generates phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 3,4-bisphosphate
    (PtdIns(3,4)P2) that act as second messengers. Has a role in several intracellular trafficking events. Functions in
    insulin signaling and secretion. Required for translocation of the glucose transporter SLC2A4/GLUT4 to the plasma
    membrane and glucose uptake in response to insulin-mediated RHOQ activation. Regulates insulin secretion through two
    different mechanisms: involved in glucose-induced insulin secretion downstream of insulin receptor in a pathway that
    involves AKT1 activation and TBC1D4/AS160 phosphorylation, and participates in the late step of insulin granule
    exocytosis probably in insulin granule fusion. Synthesizes PtdIns3P in response to insulin signaling. Functions in
    clathrin-coated endocytic vesicle formation and distribution. Regulates dynamin-independent endocytosis, probably by
    recruiting EEA1 to internalizing vesicles. In neurosecretory cells synthesizes PtdIns3P on large dense core vesicles.
    Participates in calcium induced contraction of vascular smooth muscle by regulating myosin light chain (MLC)
    phosphorylation through a mechanism involving Rho kinase-dependent phosphorylation of the MLCP-regulatory subunit
    MYPT1. May play a role in the EGF signaling cascade. May be involved in mitosis and UV-induced damage response.
    Required for maintenance of normal renal structure and function by supporting normal podocyte function
    Catalytic activity: ATP + 1-phosphatidyl-1D-myo-inositol 4-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol
    3,4-bisphosphate
    Enzyme regulation: Activated by insulin (By similarity). Only slightly inhibited by wortmannin and LY294002. Activated
    by clathrin
    Biophysicochemical properties: Kinetic parameters: KM=122 uM for PtdIns (in the absence of phosphatidylserine); KM=64
    uM for PtdIns (in the presence of phosphatidylserine); KM=25 uM for PtdIns4P (in the presence of phosphatidylserine);
    KM=15 uM for ATP (with PtdIns as substrate) (in the absence of phosphatidylserine); KM=32 uM for ATP (with PtdIns as
    substrate) (in the presence of phosphatidylserine); KM=54 uM for ATP (with PtdIns4P as substrate) (in the presence of
    phosphatidylserine); Vmax=990 pmol/min/mg enzyme with PtdIns as substrate (in the absence of phosphatidylserine);
    Vmax=200 pmol/min/mg enzyme with PtdIns as substrate (in the presence of phosphatidylserine); Vmax=240 pmol/min/mg
    enzyme with PtdIns4P as substrate (in the presence of phosphatidylserine); Vmax=6800 pmol/min/mg enzyme toward ATP
    with PtdIns as substrate (in the absence of phosphatidylserine); Vmax=805 pmol/min/mg enzyme toward ATP with PtdIns as
    substrate (in the presence of phosphatidylserine); Vmax=880 pmol/min/mg enzyme toward ATP with PtdIns4P as substrate
    (in the presence of phosphatidylserine); Note=In the absence of the carrier phosphatidylserine, enzymatic kinetics
    toward PtdIns4P are non-linear;

         Enzyme Numbers (IUBMB): EC 2.7.1.1541 2 EC 2.7.12

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
    GO:0016301kinase activity ----
    GO:00163031-phosphatidylinositol-3-kinase activity IEA--
    GO:0035004phosphatidylinositol 3-kinase activity TAS17371240
    GO:00350051-phosphatidylinositol-4-phosphate 3-kinase activity TAS--
         
    PIK3C2A for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PIK3C2A:
     Decreased G3BP1 protein expres  Increased cell death HMECs cel 

         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pik3c2a):
     adipose tissue  growth/size  hematopoietic system  homeostasis/metabolism  immune system 
     mortality/aging  renal/urinary system 

    PIK3C2A for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for PIK3C2A 

    miRNA
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    hsa-miR-3152-3p hsa-miR-15a hsa-miR-218-1* hsa-miR-1258 hsa-miR-371-5p hsa-miR-1244 hsa-miR-3148 hsa-miR-130b
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/21 super-pathways (see all 21About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1mTOR Pathway
    mTOR Pathway1.00
    Insulin Pathway0.32
    TGF-beta Pathway0.38
    2Clathrin derived vesicle budding
    Clathrin derived vesicle budding1.00
    Golgi Associated Vesicle Biogenesis0.89
    trans-Golgi Network Vesicle Budding1.00
    3PI Metabolism
    PI Metabolism1.00
    3-phosphoinositide biosynthesis0.48
    Synthesis of PIPs at the plasma membrane0.66
    4Metabolism
    Metabolism1.00
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.38
    5Inositol phosphate metabolism
    Inositol phosphate metabolism1.00
    Phosphatidylinositol signaling system0.59
    superpathway of inositol phosphate compounds0.59

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PIK3C2A
        ICos-ICosL Pathway in T-Helper Cell
    PI3K Signaling in B-Lymphocyte
    VEGF and S-1P Signaling
    CD28 Signaling in T-Helper Cell

    5/9 Tocris Bioscience Pathways for PIK3C2A (see all 9)
        Akt Pathway
    Insulin Pathway
    Apoptosis Pathway
    NF-kappaB Pathway
    Toll-like Receptor Pathway

    5/6 BioSystems Pathways for PIK3C2A (see all 6
        Signaling Pathways in Glioblastoma
    3-phosphoinositide biosynthesis
    Regulation of Actin Cytoskeleton
    Insulin Signaling
    Integrins in angiogenesis

    5/12        Reactome Pathways for PIK3C2A (see all 12)
        Membrane Trafficking
    Clathrin derived vesicle budding
    Metabolism
    trans-Golgi Network Vesicle Budding
    Phospholipid metabolism

    4 PharmGKB Pathways for PIK3C2A
        Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics
    Proton Pump Inhibitor Pathway, Pharmacodynamics
    Sorafenib Pharmacodynamics
    VEGF Signaling Pathway

    3         Kegg Pathways  (Kegg details for PIK3C2A):
        Inositol phosphate metabolism
    Metabolic pathways
    Phosphatidylinositol signaling system


    PIK3C2A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PIK3C2A

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

    5/437 Interacting proteins for PIK3C2A (O004432, 3 ENSP000002659704) via UniProtKB, MINT, STRING, and/or I2D (see all 437)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006661phosphatidylinositol biosynthetic process TAS--
    GO:0006887exocytosis TAS17371240
    GO:0006897endocytosis IMP--
    GO:0007173epidermal growth factor receptor signaling pathway TAS17371240

    PIK3C2A for ontologies           About GeneDecksing



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

    PIK3C2A for compounds           About GeneDecksing

    EMD Millipore small molecules for PIK3C2A:
    Small Molecule - inhibitor
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    Compounds for PIK3C2A available from Tocris Bioscience    About this table
    CompoundAction CAS #
    LY 294002 hydrochlorideSelective PI 3-kinase inhibitor[154447-36-6]
    QuercetinNon-selective PI 3-kinase inhibitor[117-39-5]
    PI 103 hydrochloride Inhibitor of PI 3-kinase, mTOR and DNA-PK [371935-74-9]
    Wortmannin Potent, irreversible inhibitor of PI 3-kinase. Also inhibitor of PLK1 [19545-26-7]
    PI 828 PI 3-kinase inhibitor, more potent than LY 294002 (Cat. No. 1130) [942289-87-4]

    10/129 HMDB Compounds for PIK3C2A (see all 129)    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    CalciumCa (see all 2)7440-70-2--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--
    PS(14:0/14:0)Phosphatidylserine(14:0/14:0) (see all 7)----
    PS(14:0/14:1(9Z))Phosphatidylserine(14:0/14:1n5) (see all 13)----
    PS(14:0/16:0)1-myristoyl-2-palmitoyl-sn-glycero-3-phosphoserine (see all 7)----
    PS(14:0/16:1(9Z))PS(14:0/16:1n7) (see all 13)----
    PS(14:0/18:0)Phosphatidylserine(32:0) (see all 7)----
    10/106 Novoseek chemical compound relationships for PIK3C2A gene (see all 106)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    creatinine 86.4 489 17300133 (3), 9501676 (3), 10522418 (2), 15518777 (2) (see all 99)
    dantrolene 60.5 3 2354060 (1), 9017254 (1), 8610025 (1)
    alpha-hydroxybutyrate 58.7 2 14761575 (1), 16824338 (1)
    fluvastatin 54.1 4 15518777 (1), 9203045 (1), 14872552 (1), 16446645 (1)
    lactate 52.2 62 16778757 (2), 12890994 (2), 11367646 (1), 9766526 (1) (see all 55)
    pravastatin 49.7 6 8591712 (3), 1733092 (1), 17532682 (1), 19104420 (1)
    simvastatin 48.3 6 11583721 (1), 1904357 (1), 12240878 (1), 8482062 (1) (see all 6)
    atorvastatin 46.7 5 12534315 (1), 12972104 (1), 17535079 (1), 18356785 (1)
    aspartate 45.4 29 14759379 (2), 14761575 (1), 17206443 (1), 2402132 (1) (see all 28)
    uric acid 44.9 28 17338197 (4), 9429015 (2), 14759379 (2), 1784405 (1) (see all 15)

    Search CenterWatch for drugs/clinical trials and news about PIK3C2A / P3C2A 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PIK3C2A gene: 
    NM_002645.2  

    Unigene Cluster for PIK3C2A:

    Phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
    Hs.175343  [show with all ESTs]
    Unigene Representative Sequence: NM_002645
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000531428(uc009ygu.1) ENST00000265970(uc001mmq.4 uc010rcw.2 uc010rcx.1 uc009ygv.1)
    ENST00000533645(uc001mmr.3) ENST00000532035 ENST00000503729 ENST00000540361


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    Additional cDNA sequence: 

    AK294416.1 AK299474.1 AK304262.1 AK309610.1 AK310248.1 AL049998.1 AL832699.1 BC031681.1 
    BC040952.1 BC113658.1 BX648778.1 CR627335.1 Y13367.1 

    9 DOTS entries:

    DT.412738  DT.101973514  DT.437411  DT.101980888  DT.120715322  DT.91646588  DT.100784357  DT.100888938 
    DT.121502290 

    24/179 AceView cDNA sequences (see all 179):

    AW675279 AA689576 AA348462 CA393722 BU679326 AI954464 AI026632 AI264571 
    BX099044 AI476460 AI610239 CA867091 BQ723761 AV725484 AW471240 AA905750 
    AI811319 AA344473 CA437365 CA867024 AL706251 AV682436 BQ016976 H10335 

    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

    PIK3C2A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTGTTTGACT
    PIK3C2A Expression
    About this image
    See PIK3C2A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PIK3C2A

    SOURCE GeneReport for Unigene cluster: Hs.175343

    UniProtKB/Swiss-Prot: P3C2A_HUMAN, O00443
    Tissue specificity: Expressed in columnar and transitional epithelia, mononuclear cells, smooth muscle cells, and
    endothelial cells lining capillaries and small venules (at protein level). Ubiquitously expressed, with highest levels
    in heart, placenta and ovary, and lowest levels in the kidney. Detected at low levels in islets of Langerhans from
    type 2 diabetes mellitus individuals

        SABiosciences Expression via Pathway-Focused PCR Arrays including PIK3C2A: 
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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 PIK3C2A gene from 6/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves PIK3C2A1 phosphoinositide-3-kinase, class 2, alpha polypeptide 75.63(n)
    76.13(a)
      423070  XM_421003.2  XP_421003.2 
    lizard
    (Anolis carolinensis)
    Reptilia PIK3C2A6
    --
    73(a)
    1 ↔ 1
    1(66635711-66675310)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.145862 Xenopus laevis transcribed sequence with moderate similarity more 74.81(n)    CA794192.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BG728812.12   -- 76.03(n)    BG728812.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pi3K68D1 , 3 phosphorylation phosphatidylinositol
    3-kinase3
    Phosphotidylinositol 3 kinase 68D1
    36(a)3
    47.68(n)1
    39.4(a)1
      393291  NM_168475.21  NP_729743.11 
    worm
    (Caenorhabditis elegans)
    Secernentea piki-11 Protein PIKI-1 43.02(n)
    31.47(a)
      181618  NM_078128.2  NP_510529.1 


    ENSEMBL Gene Tree for PIK3C2A (if available)
    TreeFam Gene Tree for PIK3C2A (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PIK3C2A gene
    PIK3CD2  PIK3C2B2  PIK3CA2  PIK3C2G2  PIK3CG2  PIK3CB2  PIK3C32  
    12 SIMAP similar genes for PIK3C2A using alignment to 5 protein entries:     P3C2A_HUMAN (see all proteins):
    DKFZp686G16234    PIK3C2B variant protein    PIK3C2B    DKFZp779K1237    CHR11SYT    SYTL2
    PIK3CG    PIK3CB    PIK3C2G    PIK3CD    SYT15    PI4KB

    PIK3C2A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1374 NCBI SNPs in PIK3C2A are shown (see all 1374    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1905998601,2
    --17107634(+) AGGAAC/TTGCTC 1 -- int10--------
    rs19876941,2
    C,F,A,H--17107648(+) GGGGGG/CGCTCG 1 -- int18Minor allele frequency- C:0.30NS EA NA 658
    rs601334521,2
    --17107699(+) ACCCCA/TTCCTT 1 -- int10--------
    rs71264091,2
    C--17107756(+) taaaaA/Ttacaa 1 -- int12Minor allele frequency- T:0.19WA 120
    rs1493563321,2
    --17107770(+) TTAGCC/TGGGCG 1 -- int10--------
    rs110241521,2
    A--17107816(+) AGCTGA/GGGCAG 1 -- int10--------
    rs1384845261,2
    --17107887(+) CCAGGC/TCTGGG 1 -- int10--------
    rs1429059331,2
    --17107909(+) GACTCG/TGTCTC 1 -- int10--------
    rs758725851,2
    --17107914(+) TGTCTC/AAAAAA 1 -- int11Minor allele frequency- A:0.50NA 2
    rs1461367121,2
    --17108057(+) TGAGCC/TCATTG 1 -- int10--------

    HapMap Linkage Disequilibrium report for PIK3C2A (17099277 - 17229530 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PIK3C2A: --

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    PIK3C2A for disorders           About GeneDecksing

    OMIM gene information: 603601    OMIM disorders: --

    20/180 diseases for PIK3C2A (see all 180):    About MalaCards
    creatine phosphokinase, elevated serum    creatine phosphokinase    pure red-cell aplasia    disseminated intravascular coagulation
    wandering spleen    vibrio vulnificus infection    spinal cord injury    status asthmaticus
    bronchiolitis obliterans organizing pneumonia    chronic progressive external ophthalmoplegia    muscular dystrophy    nephropathia epidemica
    pericardial effusion    neuroleptic malignant syndrome    silent myocardial infarction    gas gangrene
    sine scleroderma    mixed connective tissue disease    amyopathic dermatomyositis    myocardial infarction

    12 diseases from the University of Copenhagen DISEASES database for PIK3C2A:
    Myocardial infarction     Myopathy     Malignant hyperthermia     Vascular disease
    Neuropathy     Kidney failure     Gas gangrene     Intermediate coronary syndrome
    Hypothyroidism     Pneumonia     Dermatitis     Trichinosis

    10/98 Novoseek disease relationships for PIK3C2A gene (see all 98)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    creatine phosphokinase, elevated serum 86.7 13 15925432 (1), 1803046 (1), 1398197 (1), 16553491 (1) (see all 12)
    rhabdomyolysis 86.6 51 17571610 (2), 10401940 (2), 17884958 (2), 9757925 (2) (see all 41)
    polymyositis 77.2 7 1464989 (1), 7536446 (1), 7564001 (1), 10614168 (1) (see all 7)
    neuroleptic malignant syndrome 74.8 4 20159196 (1), 1362345 (1), 17214072 (1), 10820583 (1)
    dermatomyositis 72.4 4 12355862 (1), 10614168 (1), 2244255 (1), 10496106 (1)
    myositis 71.2 15 10638867 (1), 18320790 (1), 1803046 (1), 10426928 (1) (see all 14)
    myopathy 70.2 30 15453946 (3), 2082493 (3), 9658790 (2), 18320790 (1) (see all 21)
    acute myocardial infarction 70.1 32 1842714 (2), 15815362 (2), 9778551 (1), 10522418 (1) (see all 24)
    renal failure acute 68 12 10365541 (1), 1848151 (1), 1477759 (1), 14717236 (1) (see all 11)
    myocardial infarction 63.8 28 17059151 (3), 9163005 (2), 19627702 (2), 10663915 (1) (see all 23)

    Human Genome Epidemiology (HuGE) Navigator: PIK3C2A (8 documents)

    Export disorders for PIK3C2A 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 PIK3C2A gene, integrated from 9 sources (see all 675):
    (articles sorted by number of sources associating them with PIK3C2A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of a human phosphoinositide 3-kinase with a C2 domain which displays reduced sensitivity to the inhibitor wortmannin. (PubMed id 9337861)1, 2, 3 Domin J.... Waterfield M.D. (1997)
    2. Individual phosphoinositide 3-kinase C2alpha domain activities independently regulate clathrin function. (PubMed id 16215232)1, 2, 9 Gaidarov I....Keen J.H. (2005)
    3. Structural and membrane binding analysis of the Phox homology domain of phosphoinositide 3-kinase-C2alpha. (PubMed id 17038310)1, 2, 9 Stahelin R.V.... Cho W. (2006)
    4. Phosphatidylinositol 3-kinase c2alpha contains a nuclear localization sequence and associates with nuclear speckles. (PubMed id 11606566)1, 2, 9 Didichenko S.A. and Thelen M. (2001)
    5. Class II phosphoinositide 3-kinases are downstream targets of activated polypeptide growth factor receptors. (PubMed id 10805725)1, 2, 9 Arcaro A....Domin J. (2000)
    6. PI3KC2I+, a class II PI3K, is required for dynamin-ind ependent internalization pathways. (PubMed id 21081650)1, 2 Krag C....Salcini A.E. (2010)
    7. Role of class II phosphoinositide 3-kinase in cell si gnalling. (PubMed id 17371240)1, 2 Falasca M. and Maffucci T. (2007)
    8. Topographical expression of class IA and class II phosphoinositide 3- kinase enzymes in normal human tissues is consistent with a role in differentiation. (PubMed id 14563213)1, 2 El Sheikh S.S....Lalani E.-N. (2003)
    9. Mitotic and stress-induced phosphorylation of HsPI3K-C2alpha targets the protein for degradation. (PubMed id 12719431)1, 2 Didichenko S.A.... Thelen M. (2003)
    10. The class II phosphoinositide 3-kinase C2alpha is activated by clathrin and regulates clathrin-mediated membrane trafficking. (PubMed id 11239472)1, 2 Gaidarov I.... Keen J.H. (2001)

    (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: 5286 HGNC: 8971 AceView: PIK3C2A Ensembl:ENSG00000011405 euGenes: HUgn5286
    ECgene: PIK3C2A Kegg: 5286 H-InvDB: PIK3C2A

    (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 PIK3C2A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PIK3C2A Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PIK3C2A gene:
    Search GeneIP for patents involving PIK3C2A

    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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