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

Gene ID: 5286, updated on 6-Oct-2024

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; AllianceGenome:HGNC:8971
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
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Genomic context

See PIK3C2A in Genome Data Viewer
Location:
11p15.1
Exon count:
35
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (17086575..17207986, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (17184463..17305651, complement)
RS_2024_09 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 ATAC-STARR-seq lymphoblastoid active region 4484 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 H3K27ac hESC enhancer GRCh37_chr11:17216823-17217324 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:17223457-17223958 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:17228800-17229323 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:17229324-17229846 Neighboring gene ribosomal protein L29 pseudogene 21 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4486 Neighboring gene ribosomal protein S2 pseudogene 40 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4487 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3183 Neighboring gene nucleobindin 2 Neighboring gene uncharacterized LOC124902640

Genomic regions, transcripts, and products

Expression

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Oculocerebrodental syndrome
MedGen: C5193101 OMIM: 618440 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies five new schizophrenia loci.
EBI GWAS Catalog
Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia.
EBI GWAS Catalog

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

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
 
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/protein kinase B signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
involved_in phosphatidylinositol-3-phosphate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in phosphatidylinositol-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
 
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
 
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 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
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_047283083.1
XP_047283084.1
XP_054225106.1
XP_054225107.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  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
    B0LPH2, B4E2G4, O00443, Q14CQ9
    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
    B0LPH2, B4E2G4, O00443, Q14CQ9
    UniProtKB/TrEMBL
    L7RRS0
    Related
    ENSP00000509400.1, ENST00000691414.1
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047427128.1XP_047283084.1  phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha isoform X2

  2. XM_047427127.1XP_047283083.1  phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha isoform X1

    UniProtKB/Swiss-Prot
    B0LPH2, B4E2G4, O00443, Q14CQ9
    UniProtKB/TrEMBL
    L7RRS0

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    17184463..17305651 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054369132.1XP_054225107.1  phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha isoform X2

  2. XM_054369131.1XP_054225106.1  phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha isoform X1

    UniProtKB/Swiss-Prot
    B0LPH2, B4E2G4, O00443, Q14CQ9
    UniProtKB/TrEMBL
    L7RRS0