About   Help   FAQ
Pik3ca Gene Detail
Summary
  • Symbol
    Pik3ca
  • Name
    phosphatidylinositol 3-kinase, catalytic, alpha polypeptide
  • Synonyms
    6330412C24Rik, caPI3K, p110alpha
  • Feature Type
    protein coding gene
  • IDs
    MGI:1206581
    NCBI Gene: 18706
Location & Maps
more
  • Sequence Map
    Chr3:32397671-32466107 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      68437 bp   ±  kb flank

  • Genome Browsers
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
  • Synonyms
    CLOVE, CWS5, MCAP, MCM, MCMTC, p110-alpha, PI3K
  • Links
    NCBI Gene ID: 5290
    neXtProt AC: NX_P42336

  • Chr Location
    3q26.3; chr3:179148114-179240084 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Pik3ca mouse models; 11 with human PIK3CA associations

Human Disease Mouse Models
       Breast Cancer   OMIM: 114480 View 4 models
Ovarian Cancer   OMIM: 167000 View 1 "NOT" model
       Colorectal Cancer; CRC   OMIM: 114500
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi   OMIM: 612918
Cowden Syndrome 5; CWS5   OMIM: 615108
Gastric Cancer   OMIM: 613659
Hepatocellular Carcinoma   OMIM: 114550
Keratosis, Seborrheic   OMIM: 182000
Lung Cancer   OMIM: 211980 View 1 model
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome; MCAP   OMIM: 602501
Nevus, Epidermal   OMIM: 162900
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    70 phenotypes from 15 alleles in 16 genetic backgrounds
    32 phenotypes from multigenic genotypes
    5 images
    78 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    35
  • Gene trapped
    12
  • Radiation induced
    1
  • Targeted
    19
  • Transgenic
    3
  • Genomic Mutations
    1 involving Pik3ca
  • Incidental Mutations
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
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021191 VEGA Gene Model | MGI Sequence Detail 68437 C57BL/6J ±  kb
transcript OTTMUST00000050202 VEGA | MGI Sequence Detail 6689 Not Applicable  
polypeptide OTTMUSP00000023403 VEGA | MGI Sequence Detail 1068 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    388 from dbSNP Build 137
  • PCR
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
    IPR000008 C2 domain
    IPR000403 Phosphatidylinositol 3-/4-kinase, catalytic domain
    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
    IPR015433 Phosphatidylinositol Kinase
    IPR001263 Phosphoinositide 3-kinase, accessory (PIK) domain
    IPR011009 Protein kinase-like domain
    IPR029071 Ubiquitin-related domain
Molecular
Reagents
less
  • All nucleic 30
    Genomic 2
    cDNA 22
    Primer pair 5
    Other 1

    Microarray probesets 9
Other
Accession IDs
less
MGI:1917992
References
more
  • Summaries
    All 142
    Developmental Gene Expression 12
    Diseases 7
    Gene Ontology 17
    Phenotypes 78
  • 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:228227 Chaudhari A, et al., p110alpha Hot Spot Mutations E545K and H1047R Exert Metabolic Reprogramming Independently of p110alpha Kinase Activity. Mol Cell Biol. 2015 Oct;35(19):3258-73

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/02/2016
MGI 6.02
The Jackson Laboratory