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Pi4k2a Gene Detail
Summary
  • Symbol
    Pi4k2a
  • Name
    phosphatidylinositol 4-kinase type 2 alpha
  • Feature Type
    protein coding gene
  • IDs
    MGI:1934031
    NCBI Gene: 84095
  • Alliance
  • Transcription Start Sites
    6 TSS
  • Candidate for QTL
    6 QTL
Location &
Maps
more
  • Sequence Map
    Chr19:42078909-42110526 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 19, 35.74 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    409 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1934031
protein coding gene Chr19:42078590-42110657 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025139
protein coding gene Chr19:41407064-41441106 (+)
A/J MGP_AJ_G0025116
protein coding gene Chr19:39416164-39448564 (+)
AKR/J MGP_AKRJ_G0025084
protein coding gene Chr19:40707976-40741199 (+)
BALB/cJ MGP_BALBcJ_G0025110
protein coding gene Chr19:39482641-39515715 (+)
C3H/HeJ MGP_C3HHeJ_G0024870
protein coding gene Chr19:40857435-40888854 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025553
protein coding gene Chr19:42470776-42509077 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022967
protein coding gene Chr19:38770656-38803280 (+)
CAST/EiJ MGP_CASTEiJ_G0024335
protein coding gene Chr19:40535848-40570895 (+)
CBA/J MGP_CBAJ_G0024850
protein coding gene Chr19:44554782-44586059 (+)
DBA/2J MGP_DBA2J_G0024982
protein coding gene Chr19:39265429-39297209 (+)
FVB/NJ MGP_FVBNJ_G0024943
protein coding gene Chr19:39039624-39070910 (+)
LP/J MGP_LPJ_G0025068
protein coding gene Chr19:41394350-41427731 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024974
protein coding gene Chr19:44173282-44208873 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025611
protein coding gene Chr19:40747945-40782824 (+)
PWK/PhJ MGP_PWKPhJ_G0024084
protein coding gene Chr19:39143381-39175753 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023888
protein coding gene Chr19:39494419-39525586 (+)
WSB/EiJ MGP_WSBEiJ_G0024405
protein coding gene Chr19:40902275-40936185 (+)



Homology
more
  • Human Ortholog
    PI4K2A, phosphatidylinositol 4-kinase type 2 alpha
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PI4K2A, phosphatidylinositol 4-kinase type 2 alpha
  • Synonyms
    NEDMSB, PI4KII, PIK42A
  • Links
    NCBI Gene ID: 55361
    neXtProt AC: NX_Q9BTU6
    UniProt: Q9BTU6

  • Chr Location
    10q24.2; chr10:97640671-97676434 (+)  GRCh38

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    16 phenotypes from 1 allele in 1 genetic background
    4 images
    11 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 develop a progressive neurologic disease typified by urinary incontinence, tremor, limb weakness, weight loss, cerebellar gliosis, Purkinje cell loss, degeneration of spinal cord axons and premature death. Mutant males are sterile while females are subfertile.
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 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
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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
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000025178 Ensembl Gene Model | MGI Sequence Detail 31618 C57BL/6J ±  kb
    transcript ENSMUST00000235932 Ensembl | MGI Sequence Detail 1939 Not Applicable  
    polypeptide ENSMUSP00000158574 Ensembl | MGI Sequence Detail 479 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 106
      cDNA 105
      Primer pair 1

      Microarray probesets 5
    References
    more
    • Summaries
      All 45
      Developmental Gene Expression 2
      Gene Ontology 5
      Phenotypes 11
    • Earliest
      J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
    • Latest
      J:315200 Khundadze M, et al., Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation. Autophagy. 2021 Nov;17(11):3690-3706

    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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    last database update
    03/19/2024
    MGI 6.23
    The Jackson Laboratory