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Pi4ka Gene Detail
Summary
  • Symbol
    Pi4ka
  • Name
    phosphatidylinositol 4-kinase, catalytic, alpha polypeptide
  • Synonyms
    Pik4ca
  • Feature Type
    protein coding gene
  • IDs
    MGI:2448506
    NCBI Gene: 224020
  • Gene Overview
    MyGene.info: PI4KA
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: HGNC, HomoloGene
  • Synonyms
    pi4K230, PI4K-ALPHA, PIK4CA, PMGYCHA
  • Links
    NCBI Gene ID: 5297

  • Chr Location
    22q11.21; chr22:20707691-20858812 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 11171
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: PI4KA
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human PI4KA associations

Human Disease Mouse Models
       Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and Arthrogryposis;   OMIM: 616531
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    22 phenotypes from 3 alleles in 4 genetic backgrounds
    12 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.
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
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
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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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000032611 VEGA Gene Model | MGI Sequence Detail 125964 C57BL/6J ±  kb
transcript OTTMUST00000081355 VEGA | MGI Sequence Detail 6630 Not Applicable  
polypeptide OTTMUSP00000043511 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
    6 Sequences
  • Protein Ontology
    PR:000012683 phosphatidylinositol 4-kinase alpha
  • EC
  • InterPro Domains
    IPR016024 Armadillo-type fold
    IPR000403 Phosphatidylinositol 3-/4-kinase, catalytic domain
    IPR018936 Phosphatidylinositol 3/4-kinase, conserved site
    IPR015433 Phosphatidylinositol Kinase
    IPR001263 Phosphoinositide 3-kinase, accessory (PIK) domain
    IPR011009 Protein kinase-like domain
Molecular
Reagents
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  • All nucleic 156
    cDNA 155
    Primer pair 1

    Microarray probesets 5
References
more
  • Summaries
    All 39
    Developmental Gene Expression 3
    Gene Ontology 6
    Phenotypes 12
  • 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
07/19/2016
MGI 6.04
The Jackson Laboratory