Version: 8.0.0
Date: Tue Jan 28 2025
PIK3CD
Homo sapiensHGNC:8977
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

PIK3CD

Species
Homo sapiens
Symbol
PIK3CD
Name
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
Synonyms
  • APDS
  • IMD14
Biotype
protein coding gene
Automated Description
Predicted to enable 1-phosphatidylinositol-3-kinase activity and 1-phosphatidylinositol-4-phosphate 3-kinase activity. Involved in several processes, including phosphatidylinositol 3-kinase/protein kinase B signal transduction; positive regulation of epithelial tube formation; and positive regulation of neutrophil apoptotic process. Part of phosphatidylinositol 3-kinase complex, class IA. Implicated in colorectal cancer; endometrial cancer; immunodeficiency 14; and schizophrenia. Biomarker of glioblastoma.
RGD Description
Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I PI3K found primarily in leukocytes. Like other class I PI3Ks (p110-alpha p110-beta, and p110-gamma), the encoded protein binds p85 adapter proteins and GTP-bound RAS. However, unlike the other class I PI3Ks, this protein phosphorylates itself, not p85 protein.[provided by RefSeq, Jul 2010]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10048
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
      Has Disease Annotations
      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          PIK3CD molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            PIK3CD role
            PIK3CD genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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