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Pik3ca Gene Detail
Summary
  • Symbol
    Pik3ca
  • Name
    phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
  • Synonyms
    6330412C24Rik, caPI3K, p110alpha
  • Feature Type
    protein coding gene
  • IDs
    MGI:1206581
    NCBI Gene: 18706
  • Gene Overview
    MyGene.info: PIK3CA
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:32397671-32468486 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 15.70 cM, cytoband B
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    403 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1206581
protein coding gene Chr3:32397069-32468486 (.)
129S1/SvImJ MGP_129S1SvImJ_G0027136
protein coding gene Chr3:29991435-30069181 (+)
A/J MGP_AJ_G0027096
protein coding gene Chr3:29613447-29647323 (+)
AKR/J MGP_AKRJ_G0027065
protein coding gene Chr3:30063182-30106088 (+)
BALB/cJ MGP_BALBcJ_G0027108
protein coding gene Chr3:29232368-29301801 (+)
C3H/HeJ MGP_C3HHeJ_G0026851
protein coding gene Chr3:30095618-30130194 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027554
protein coding gene Chr3:31536160-31567533 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024915
protein coding gene Chr3:27411754-27483164 (+)
CAST/EiJ MGP_CASTEiJ_G0026304
protein coding gene Chr3:29959700-29989049 (+)
CBA/J MGP_CBAJ_G0026828
protein coding gene Chr3:32374171-32408060 (+)
DBA/2J MGP_DBA2J_G0026962
protein coding gene Chr3:29053481-29118875 (+)
FVB/NJ MGP_FVBNJ_G0026930
protein coding gene Chr3:28547140-28580182 (+)
LP/J MGP_LPJ_G0027074
protein coding gene Chr3:30808883-30839194 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026950
protein coding gene Chr3:34894299-34925438 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027613
protein coding gene Chr3:29869206-29899400 (+)
PWK/PhJ MGP_PWKPhJ_G0026037
protein coding gene Chr3:28593389-28664071 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025849
protein coding gene Chr3:29228746-29305879 (+)
WSB/EiJ MGP_WSBEiJ_G0026378
protein coding gene Chr3:29841834-29912483 (+)



Homology
more
  • Human Ortholog
    PIK3CA, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
  • Vertebrate Orthologs
    11
  • Human Ortholog
    PIK3CA, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CLAPO, CLOVE, CWS5, MCAP, MCM, MCMTC, p110-alpha, PI3K, PI3K-alpha
  • Links
    NCBI Gene ID: 5290
    neXtProt AC: NX_P42336
    UniProt: P42336

  • Chr Location
    3q26.32; chr3:179148114-179240093 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Pik3ca mouse models; 10 with human PIK3CA associations

Human Disease Mouse Models
      
IDs
View 5 models
      
IDs
IDs
IDs
IDs
IDs
IDs
View 1 model
IDs
View 1 model
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    6 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    94 phenotypes from 15 alleles in 18 genetic backgrounds
    35 phenotypes from multigenic genotypes
    5 images
    117 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous null or knock-in mutations of this gene lead to embryonic death associated with growth retardation, vascular defects and hemorrhage. Surviving mice homozygous for a knock-in allele show impaired lymphangiogenesis, ascites, reduced weight, and resistance to Ras-driven skin tumorigenesis.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000027665 Ensembl Gene Model | MGI Sequence Detail 70816 C57BL/6J ±  kb
    transcript ENSMUST00000108243 Ensembl | MGI Sequence Detail 6689 Not Applicable  
    polypeptide ENSMUSP00000103878 Ensembl | MGI Sequence Detail 1068 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000012719 phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform
    • PDB
    • EC
    • InterPro Domains
      IPR016024 Armadillo-type fold
      IPR000403 Phosphatidylinositol 3-/4-kinase, catalytic domain
      IPR036940 Phosphatidylinositol 3-/4-kinase, catalytic domain superfamily
      IPR018936 Phosphatidylinositol 3/4-kinase, conserved site
      IPR003113 Phosphatidylinositol 3-kinase adaptor-binding (PI3K ABD) domain
      IPR002420 Phosphatidylinositol 3-kinase, C2 domain
      IPR000341 Phosphatidylinositol 3-kinase Ras-binding (PI3K RBD) domain
      IPR008290 Phosphatidylinositol 3-kinase, Vps34 type
      IPR015433 Phosphatidylinositol kinase
      IPR001263 Phosphoinositide 3-kinase, accessory (PIK) domain
      IPR037704 PI3Kalpha, catalytic domain
      IPR011009 Protein kinase-like domain superfamily
      IPR029071 Ubiquitin-like domain superfamily
    Molecular
    Reagents
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    • All nucleic 32
      Genomic 2
      cDNA 24
      Primer pair 5
      Other 1

      Microarray probesets 9
    Other
    Accession IDs
    less
    MGI:1917992
    References
    more
    • Summaries
      All 238
      Developmental Gene Expression 14
      Diseases 8
      Gene Ontology 20
      Phenotypes 117
    • Earliest
      J:47211 Klippel A, et al., The interaction of small domains between the subunits of phosphatidylinositol 3-kinase determines enzyme activity. Mol Cell Biol. 1994 Apr;14(4):2675-85
    • Latest
      J:264410 Venot Q, et al., Targeted therapy in patients with PIK3CA-related overgrowth syndrome. Nature. 2018 Jun;558(7711):540-546

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory