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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
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:32451203-32520256 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 15.70 cM, cytoband B
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1573 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1206581
 protein coding gene Chr3:32451203-32522635 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PIK3CA, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
  • Synonyms
    CCM4, CLAPO, CLOVE, CWS5, HMH, 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
Human Diseases
more
  • Diseases
    2 with Pik3ca mouse models; 17 with human PIK3CA associations

Human Disease Mouse Models
      
IDs
 View 4 models
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
 View 1 model
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    111 phenotypes from 15 alleles in 20 genetic backgrounds
    35 phenotypes from multigenic genotypes
    5 images
    226 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
less
  • All GO Annotations
    103
  • GO References
    26
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    877
  • Tissues
    121
  • cDNA Data
    23
  • Literature Summary
    22
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18706 NCBI Gene Model | MGI Sequence Detail 69054 C57BL/6J ±  kb
    transcript NM_008839 RefSeq | MGI Sequence Detail 6987 ZRU/MplStud  
    polypeptide P42337 UniProt | EBI | 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
      (term hierarchy)
    • PDB
      4A55
    • EC
      2.7.1.137, 2.7.1.153, 2.7.11.1
    • InterPro Domains
      IPR016024 Armadillo-type fold
      IPR035892 C2 domain superfamily
      IPR002420 C2 phosphatidylinositol 3-kinase-type domain
      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 domain
      IPR000341 Phosphatidylinositol 3-kinase Ras-binding (PI3K RBD) domain
      IPR015433 Phosphatidylinositol kinase
      IPR001263 Phosphoinositide 3-kinase, accessory (PIK) domain
      IPR042236 Phosphoinositide 3-kinase, accessory (PIK) domain superfamily
      IPR037704 PI3Kalpha, catalytic domain
      IPR011009 Protein kinase-like domain superfamily
      IPR029071 Ubiquitin-like domain superfamily
    • GlyGen
      P42337 1 site, 1 N-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 33
      Genomic 2
      cDNA 24
      Primer pair 6
      Other 1

      Microarray probesets 9
    Other
    Accession IDs
    less
    MGI:1917992
    References
    more
    • Summaries
      All 374
      Developmental Gene Expression 22
      Diseases 8
      Gene Ontology 26
      Phenotypes 226
    • 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:357275 Neuss T, et al., Metabolic Reprogramming Is an Initial Step in Pancreatic Carcinogenesis That Can Be Targeted to Inhibit Acinar-to-Ductal Metaplasia. Cancer Res. 2024 Jul 15;84(14):2297-2312
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory