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Pi4ka Gene Detail
Summary
  • Symbol
    Pi4ka
  • Name
    phosphatidylinositol 4-kinase alpha
  • Synonyms
    Pik4ca
  • Feature Type
    protein coding gene
  • IDs
    MGI:2448506
    NCBI Gene: 224020
  • Gene Overview
    MyGene.info: PI4KA
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr16:17280351-17406314 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      125964 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 10.71 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    PI4KA, phosphatidylinositol 4-kinase alpha
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PI4KA, phosphatidylinositol 4-kinase alpha
    Orthology source: HomoloGene, HGNC
  • Synonyms
    pi4K230, PI4K-ALPHA, PIK4CA, PMGYCHA
  • Links
    NCBI Gene ID: 5297
    neXtProt AC: NX_P42356
    UniProt: P42356

  • Chr Location
    22q11.21; chr22:20707691-20858812 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 11171
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: PI4KA
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    30 phenotypes from 5 alleles in 6 genetic backgrounds
    15 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.
Mice homozygous for a targeted knock-out or knock-in conditionally activated exhibit premature death associated with degeneration of mucosal cells in the stomach and intestines. Mice homozygous for a knock-out allele exhibit early embryonic lethality.
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 OTTMUSG00000032611 VEGA Gene Model | MGI Sequence Detail 125964 C57BL/6J ±  kb
    transcript OTTMUST00000081102 VEGA | MGI Sequence Detail 6431 Not Applicable  
    polypeptide OTTMUSP00000043328 VEGA | MGI Sequence Detail 2044 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      542 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • 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
      IPR015433 Phosphatidylinositol kinase
      IPR001263 Phosphoinositide 3-kinase, accessory (PIK) domain
      IPR011009 Protein kinase-like domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 158
      cDNA 156
      Primer pair 2

      Microarray probesets 5
    References
    more
    • Summaries
      All 43
      Developmental Gene Expression 3
      Gene Ontology 6
      Phenotypes 15
    • Earliest
      J:82808 Strausberg RL, et al., Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903
    • Latest
      J:230261 Racedo SE, et al., Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation. Am J Hum Genet. 2015 Feb 5;96(2):235-44

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    10/09/2018
    MGI 6.12
    The Jackson Laboratory