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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
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:17098215-17224178 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 10.71 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    2888 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2448506
 protein coding gene Chr16:17098215-17224178 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022577
 protein coding gene Chr16:14419058-14556626 (-)
A/J MGP_AJ_G0022538
 protein coding gene Chr16:13703068-13832422 (-)
AKR/J MGP_AKRJ_G0022515
 protein coding gene Chr16:14249197-14375294 (-)
BALB/cJ MGP_BALBcJ_G0022541
 protein coding gene Chr16:13848167-13976962 (-)
C3H/HeJ MGP_C3HHeJ_G0022308
 protein coding gene Chr16:14385521-14520636 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022992
 protein coding gene Chr16:14650154-14787610 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020512
 protein coding gene Chr16:13778675-13905572 (-)
CAST/EiJ MGP_CASTEiJ_G0021836
 protein coding gene Chr16:14294035-14424581 (-)
CBA/J MGP_CBAJ_G0022279
 protein coding gene Chr16:15325922-15453817 (-)
DBA/2J MGP_DBA2J_G0022409
 protein coding gene Chr16:13628309-13755192 (-)
FVB/NJ MGP_FVBNJ_G0022385
 protein coding gene Chr16:13670420-13796210 (-)
LP/J MGP_LPJ_G0022476
 protein coding gene Chr16:14180534-14317875 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022406
 protein coding gene Chr16:15005217-15153598 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0023003
 protein coding gene Chr16:14182575-14314992 (-)
PWK/PhJ MGP_PWKPhJ_G0021579
 protein coding gene Chr16:13873194-14003951 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021407
 protein coding gene Chr16:14169015-14296777 (-)
WSB/EiJ MGP_WSBEiJ_G0021883
 protein coding gene Chr16:14187051-14315554 (-)



Homology
more
  • Human Ortholog
    PI4KA, phosphatidylinositol 4-kinase alpha
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PI4KA, phosphatidylinositol 4-kinase alpha
  • Synonyms
    GIDID2, pi4K230, PI4K-ALPHA, PIK4CA, PMGYCHA, SPG84
  • Links
    NCBI Gene ID: 5297
    neXtProt AC: NX_P42356
    UniProt: P42356

  • Chr Location
    22q11.21; chr22:20707691-20859417 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human PI4KA associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    37 phenotypes from 7 alleles in 8 genetic backgrounds
    1 phenotype from multigenic genotypes
    25 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
less
  • All GO Annotations
    22
  • GO References
    8
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
    844
  • Tissues
    113
  • cDNA Data
    156
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 224020 NCBI Gene Model | MGI Sequence Detail 125964 C57BL/6J ±  kb
    transcript NM_001373955 RefSeq | MGI Sequence Detail 6602 C57BL/6  
    polypeptide E9Q3L2 UniProt | EBI | MGI Sequence Detail 2105 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000012683 phosphatidylinositol 4-kinase alpha
      (term hierarchy)
    • EC
      2.7.1.67
    • 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
      IPR042236 Phosphoinositide 3-kinase, accessory (PIK) domain superfamily
      IPR045495 PI4-kinase, N-terminal
      IPR011009 Protein kinase-like domain superfamily
    • GlyGen
      E9Q3L2 4 sites, 2 N-linked glycans (3 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 158
      cDNA 156
      Primer pair 2

      Microarray probesets 5
    References
    more
    • Summaries
      All 56
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 8
      Phenotypes 25
    • 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:348704 Vong KI, et al., Risk of meningomyelocele mediated by the common 22q11.2 deletion. Science. 2024 May 3;384(6695):584-590
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory