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Pik3c2a Gene Detail
Summary
  • Symbol
    Pik3c2a
  • Name
    phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
  • Synonyms
    PI3KC2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1203729
    NCBI Gene: 18704
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:115936500-116042684 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 61.62 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    523 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1203729
 protein coding gene Chr7:115936500-116042693 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032891
 protein coding gene Chr7:120074970-120183739 (-)
A/J MGP_AJ_G0032874
 protein coding gene Chr7:117058420-117163898 (-)
AKR/J MGP_AKRJ_G0032806
 protein coding gene Chr7:120027722-120141515 (-)
BALB/cJ MGP_BALBcJ_G0032879
 protein coding gene Chr7:116781531-116888674 (-)
C3H/HeJ MGP_C3HHeJ_G0032589
 protein coding gene Chr7:119962279-120063860 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033385
 protein coding gene Chr7:124884896-125002314 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030357
 protein coding gene Chr7:118576115-118672770 (-)
CAST/EiJ MGP_CASTEiJ_G0031917
 protein coding gene Chr7:111649295-111758188 (-)
CBA/J MGP_CBAJ_G0032562
 protein coding gene Chr7:129026576-129137449 (-)
DBA/2J MGP_DBA2J_G0032714
 protein coding gene Chr7:115111801-115213148 (-)
FVB/NJ MGP_FVBNJ_G0032667
 protein coding gene Chr7:114962199-115073127 (-)
LP/J MGP_LPJ_G0032808
 protein coding gene Chr7:121562492-121667108 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032699
 protein coding gene Chr7:130639253-130761721 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0033405
 protein coding gene Chr7:119020109-119127296 (-)
PWK/PhJ MGP_PWKPhJ_G0031625
 protein coding gene Chr7:107988385-108096079 (-)
SPRET/EiJ MGP_SPRETEiJ_G0031472
 protein coding gene Chr7:105751995-105861784 (-)
WSB/EiJ MGP_WSBEiJ_G0032030
 protein coding gene Chr7:119897078-119999863 (-)



Homology
more
  • Human Ortholog
    PIK3C2A, phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PIK3C2A, phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
  • Synonyms
    CPK, OCSKD, PI3-K-C2A, PI3K-C2alpha, PI3K-C2-alpha, PI3-K-C2(ALPHA)
  • Links
    NCBI Gene ID: 5286
    neXtProt AC: NX_O00443
    UniProt: O00443

  • Chr Location
    11p15.1; chr11:17077730-17207986 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    66 phenotypes from 3 alleles in 3 genetic backgrounds
    20 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 gene trap allele show chronic renal failure and a range of renal lesions that precede immune involvement. Mice heterozygous for a kinase-inactivating allele show defects in platelet formation, platelet membrane morphology and dynamics, and an enrichment of barbell proplatelets.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    45
  • GO References
    11
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
non-membrane-bounded 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
    802
  • Tissues
    96
  • cDNA Data
    109
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000030660 Ensembl Gene Model | MGI Sequence Detail 106185 C57BL/6J ±  kb
    transcript ENSMUST00000206219 Ensembl | MGI Sequence Detail 5670 Not Applicable  
    polypeptide ENSMUSP00000146181 Ensembl | MGI Sequence Detail 1686 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 111
      cDNA 110
      Primer pair 1

      Microarray probesets 5
    References
    more
    • Summaries
      All 63
      Developmental Gene Expression 3
      Gene Ontology 11
      Phenotypes 20
    • Earliest
      J:33383 Molz L, et al., Cpk is a novel class of Drosophila PtdIns 3-kinase containing a C2 domain. J Biol Chem. 1996 Jun 7;271(23):13892-9
    • Latest
      J:335856 Mujalli A, et al., Exploring the Role of PI3P in Platelets: Insights from a Novel External PI3P Pool. Biomolecules. 2023 Mar 24;13(4)
    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)
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    Funding Information
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    04/16/2024
    MGI 6.23     		The Jackson Laboratory