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FLASH GENE
Symbol PIK3CD contributors: mct - updated : 31-08-2017
HGNC name phosphoinositide-3-kinase, catalytic, delta polypeptide
HGNC id 8977
Corresponding disease
IMD14 Immunodeficiency 14
Location 1p36.22      Physical location : 9.711.789 - 9.789.171
Synonym symbol(s) PIK3, p110D, APDS, IMD14, P110DELTA, PI3K, APDS
EC.number 2.7.1.137/2.7.1.153
DNA
TYPE functioning gene
STRUCTURE 99.23 kb     19 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
text structure
  • conserved PIK3CD promoter region that may account for the predominant leukocyte expression of PIK3CD
  • PIK3CD has distinct promoters, some of which can be dynamically activated by pro-inflammatory mediators
    • MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 5411 - 1044 - 2017 28104464
    - - 5073 - 1015 - 2017 28104464
    - - 5334 - 1043 - 2017 28104464
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly
     spleen   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticplasma   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a pro-rich region
  • a basic leucine zipper-like domain
  • a PI3k/PI4k domain
    • HOMOLOGY
    Homologene
    FAMILY PI3/PI4-kinase family
    CATEGORY enzyme , receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,granule
    basic FUNCTION
  • regulating cellular responses
  • is a key player in NK-cell development and cytokine secretion
  • epistatic relationship between PIK3CD and PTEN (pMID: 18178811)
  • important role for PIK3CD in regulating B-cell responses to TNFSF13B
  • regulates T-cell cytokine production during primary and secondary immune responses (pMID: 20081091)
  • new function for PIK3CD as part of the membrane fission machinery required at the trans-Golgi network (TGN) for the selective trafficking and secretion of cytokines in macrophages
  • is a lipid kinase of the phosphoinositide 3-kinase class 1A family and involved in early signaling events of leukocytes regulating proliferation, differentiation and survival
  • is essential for tumor clearance mediated by cytotoxic T lymphocytes
  • role in the development and activation of B lymphocytes through various downstream effectors
  • can promote proliferation of diffuse large B cell lymphoma (DLBCL) cells
  • PIK3CD increase genomic instability in normal and neoplastic B cells by an AICDA-dependent mechanism
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component heterodimer of a p110 (catalytic) and a p85 (regulatory) subunit
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding p85 adaptor proteins (PIK3R1, PIK3R2, PIK3R3)
  • interacts with ERAS
  • TNF stimulation induces PIK3CD expression in human ECs (endothelial cells) and synovial fibroblasts, but not in leucocytes, through transcription start sites located in a novel promoter region in PIK3CD
  • mediates double-stranded (ds) RNA-induced upregulation of CD274 without affecting the activation of NFKB1
  • PIK3CD pathway regulates AICDA by suppressing its expression in B cells
    • cell & other associating with activated receptor protein-tyrosine kinases
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) IMD14
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
          --over  
    in blast cells from acute myeloid leukemia
    constitutional       loss of function
    in macrophages led to reduced AKT1 and RAC1 activation, but paradoxically to increased RHOA and PTEN activity
    Susceptibility to primary B-cell immunodeficiency
    Variant & Polymorphism other mutated in primary B-cell immunodeficiency
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerhemopathy 
    could be druggable in the therapy of diffuse large B cell lymphoma
    cancerhemopathy 
    potential therapeutic target in acute myeloid leukemia
    immunologyinflammatory 
    PI3Kδ inhibition could be chondroprotective in rheumatoid arthritis (RA) by modulating synoviocyte growth, migration, and invasion
    ANIMAL & CELL MODELS