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    PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha [ Homo sapiens (human) ]

    Gene ID: 5286, updated on 8-Jul-2021

    Summary

    Official Symbol
    PIK3C2Aprovided by HGNC
    Official Full Name
    phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alphaprovided by HGNC
    Primary source
    HGNC:HGNC:8971
    See related
    Ensembl:ENSG00000011405 MIM:603601
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CPK; OCSKD; PI3-K-C2A; PI3K-C2alpha; PI3K-C2-alpha; PI3-K-C2(ALPHA)
    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 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]
    Expression
    Ubiquitous expression in thyroid (RPKM 18.0), testis (RPKM 13.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PIK3C2A in Genome Data Viewer
    Location:
    11p15.1
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (17086575..17207986, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (17108122..17229533, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, C/D box 14A Neighboring gene small nucleolar RNA, C/D box 14B Neighboring gene ribosomal protein S13 Neighboring gene RNA, U6 small nuclear 593, pseudogene Neighboring gene ribosomal protein L34 pseudogene 24 Neighboring gene ribosomal protein L29 pseudogene 21 Neighboring gene ribosomal protein S2 pseudogene 40 Neighboring gene nucleobindin 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association study identifies five new schizophrenia loci.
    GeneReviews: Not available
    OCULOSKELETODENTAL SYNDROME
    MedGen: C5193101 OMIM: 618440 GeneReviews: Not available
    not available
    Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.
    GeneReviews: Not available

    HIV-1 interactions

    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 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
    reverse transcriptase gag-pol HIV-1 RT heterodimer expressed in bacteria can be phosphorylated in vitro by several purified mammalian protein kinases including auto-activated protein kinase (PK), CKII, cytosolic protamine kinase (CPK), myelin basic protein kinase 1 (MBPK1), and PRKC PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC142218, DKFZp686L193

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in clathrin coat assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in epidermal growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in exocytosis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in insulin receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in membrane organization TAS
    Traceable Author Statement
    more info
     
    involved_in phosphatidylinositol 3-kinase signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in phosphatidylinositol biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in phosphatidylinositol phosphate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in phosphatidylinositol-3-phosphate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in phosphatidylinositol-mediated signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in platelet-derived growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell migration involved in sprouting angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in vascular associated smooth muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in clathrin-coated vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    part_of phosphatidylinositol 3-kinase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha
    Names
    C2-containing phosphatidylinositol kinase
    phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing subunit alpha
    phosphoinositide 3-kinase-C2-alpha
    phosphoinositide-3-kinase, class 2, alpha polypeptide
    ptdIns-3-kinase C2 subunit alpha
    NP_001308307.1
    NP_001308309.1
    NP_001373799.1
    NP_002636.2
    XP_016873413.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)

    1. NM_001321378.2NP_001308307.1  phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC107956, AC116533, AC126389
      Consensus CDS
      CCDS7824.1
      UniProtKB/Swiss-Prot
      O00443
      UniProtKB/TrEMBL
      L7RRS0
      Conserved Domains (6) summary
      cd07289
      Location:14261534
      PX_PI3K_C2_alpha; The phosphoinositide binding Phox Homology Domain of the Alpha Isoform of Class II Phosphoinositide 3-Kinases
      cd04012
      Location:677849
      C2A_PI3K_class_II; C2 domain first repeat present in class II phosphatidylinositol 3-kinases (PI3Ks)
      cd08381
      Location:15601681
      C2B_PI3K_class_II; C2 domain second repeat present in class II phosphatidylinositol 3-kinases (PI3Ks)
      cd00869
      Location:8701038
      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 ...
      cd05176
      Location:10431395
      PI3Kc_C2_alpha; Catalytic domain of Class II Phosphoinositide 3-kinase alpha
      pfam00794
      Location:409512
      PI3K_rbd; PI3-kinase family, ras-binding domain
    2. NM_001321380.2NP_001308309.1  phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC126389, AK294416, AL049998, AL832699, BG548448, BX642731, BX648778
      UniProtKB/TrEMBL
      B4DG55
      Conserved Domains (6) summary
      cd07289
      Location:10461154
      PX_PI3K_C2_alpha; The phosphoinositide binding Phox Homology Domain of the Alpha Isoform of Class II Phosphoinositide 3-Kinases
      cd04012
      Location:297469
      C2A_PI3K_class_II; C2 domain first repeat present in class II phosphatidylinositol 3-kinases (PI3Ks)
      cd08381
      Location:11801301
      C2B_PI3K_class_II; C2 domain second repeat present in class II phosphatidylinositol 3-kinases (PI3Ks)
      cd00869
      Location:490658
      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 ...
      cd05176
      Location:6631015
      PI3Kc_C2_alpha; Catalytic domain of Class II Phosphoinositide 3-kinase alpha
      pfam00794
      Location:29132
      PI3K_rbd; PI3-kinase family, ras-binding domain
    3. NM_001386870.1NP_001373799.1  phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC107956, AC116533, AC126389
      Conserved Domains (6) summary
      cd07289
      Location:13701478
      PX_PI3K_C2_alpha; The phosphoinositide binding Phox Homology Domain of the Alpha Isoform of Class II Phosphoinositide 3-Kinases
      cd04012
      Location:677793
      C2A_PI3K_class_II; C2 domain first repeat present in class II phosphatidylinositol 3-kinases (PI3Ks)
      cd08381
      Location:15041625
      C2B_PI3K_class_II; C2 domain second repeat present in class II phosphatidylinositol 3-kinases (PI3Ks)
      cd00869
      Location:814982
      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 ...
      cd05176
      Location:9871339
      PI3Kc_C2_alpha; Catalytic domain of Class II Phosphoinositide 3-kinase alpha
      pfam00794
      Location:409512
      PI3K_rbd; PI3-kinase family, ras-binding domain
    4. NM_002645.4NP_002636.2  phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha isoform 1

      See identical proteins and their annotated locations for NP_002636.2

      Status: VALIDATED

      Source sequence(s)
      AC116533, AL049998, BC040952, BC113658, BX642731
      Consensus CDS
      CCDS7824.1
      UniProtKB/Swiss-Prot
      O00443
      UniProtKB/TrEMBL
      L7RRS0
      Related
      ENSP00000265970.6, ENST00000265970.11
      Conserved Domains (6) summary
      cd07289
      Location:14261534
      PX_PI3K_C2_alpha; The phosphoinositide binding Phox Homology Domain of the Alpha Isoform of Class II Phosphoinositide 3-Kinases
      cd04012
      Location:677849
      C2A_PI3K_class_II; C2 domain first repeat present in class II phosphatidylinositol 3-kinases (PI3Ks)
      cd08381
      Location:15601681
      C2B_PI3K_class_II; C2 domain second repeat present in class II phosphatidylinositol 3-kinases (PI3Ks)
      cd00869
      Location:8701038
      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 ...
      cd05176
      Location:10431395
      PI3Kc_C2_alpha; Catalytic domain of Class II Phosphoinositide 3-kinase alpha
      pfam00794
      Location:409512
      PI3K_rbd; PI3-kinase family, ras-binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      17086575..17207986 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017924.2XP_016873413.1  phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha isoform X1

      UniProtKB/Swiss-Prot
      O00443
      UniProtKB/TrEMBL
      L7RRS0
      Conserved Domains (6) summary
      cd07289
      Location:14261534
      PX_PI3K_C2_alpha; The phosphoinositide binding Phox Homology Domain of the Alpha Isoform of Class II Phosphoinositide 3-Kinases
      cd04012
      Location:677849
      C2A_PI3K_class_II; C2 domain first repeat present in class II phosphatidylinositol 3-kinases (PI3Ks)
      cd08381
      Location:15601681
      C2B_PI3K_class_II; C2 domain second repeat present in class II phosphatidylinositol 3-kinases (PI3Ks)
      cd00869
      Location:8701038
      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 ...
      cd05176
      Location:10431395
      PI3Kc_C2_alpha; Catalytic domain of Class II Phosphoinositide 3-kinase alpha
      pfam00794
      Location:409512
      PI3K_rbd; PI3-kinase family, ras-binding domain

    RNA

    1. XR_001747907.2 RNA Sequence

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