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Pi4kb Gene Detail
Summary
  • Symbol
    Pi4kb
  • Name
    phosphatidylinositol 4-kinase beta
  • Synonyms
    ESTM41, Pik4cb
  • Feature Type
    protein coding gene
  • IDs
    MGI:1334433
    NCBI Gene: 107650
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:94882042-94914154 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 40.74 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    488 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1334433
 protein coding gene Chr3:94882042-94914248 (+)
129S1/SvImJ MGP_129S1SvImJ_G0027563
 protein coding gene Chr3:95654164-95686274 (+)
A/J MGP_AJ_G0027522
 protein coding gene Chr3:92711558-92743816 (+)
AKR/J MGP_AKRJ_G0027489
 protein coding gene Chr3:94847289-94880705 (+)
BALB/cJ MGP_BALBcJ_G0027534
 protein coding gene Chr3:92481477-92513629 (+)
C3H/HeJ MGP_C3HHeJ_G0027267
 protein coding gene Chr3:95120238-95153509 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027982
 protein coding gene Chr3:99223742-99255862 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025322
 protein coding gene Chr3:89069961-89102595 (+)
CAST/EiJ MGP_CASTEiJ_G0026717
 protein coding gene Chr3:94413739-94446605 (+)
CBA/J MGP_CBAJ_G0027244
 protein coding gene Chr3:102801443-102833528 (+)
DBA/2J MGP_DBA2J_G0027383
 protein coding gene Chr3:92005454-92037380 (+)
FVB/NJ MGP_FVBNJ_G0027354
 protein coding gene Chr3:90073890-90106058 (+)
LP/J MGP_LPJ_G0027492
 protein coding gene Chr3:96944620-96976928 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027381
 protein coding gene Chr3:108948233-108980175 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028036
 protein coding gene Chr3:94496412-94529698 (+)
PWK/PhJ MGP_PWKPhJ_G0026445
 protein coding gene Chr3:91874456-91907709 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026266
 protein coding gene Chr3:92796334-92828265 (+)
WSB/EiJ MGP_WSBEiJ_G0026799
 protein coding gene Chr3:94887421-94920867 (+)



Homology
more
  • Human Ortholog
    PI4KB, phosphatidylinositol 4-kinase beta
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PI4KB, phosphatidylinositol 4-kinase beta
  • Synonyms
    DFNA87, NPIK, PI4K92, PI4K-BETA, PI4KBETA, PI4KIII, PI4KIIIBETA, PIK4CB
  • Links
    NCBI Gene ID: 5298
    neXtProt AC: NX_Q9UBF8
    UniProt: Q9UBF8

  • Chr Location
    1q21.3; chr1:151291797-151327715 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human PI4KB 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
    9 phenotypes from 1 allele in 1 genetic background
    14 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 homzygous for a conditional allele activated in Schwann cells exhibit limb grasping, hindlimb spasticity, abnormal gait, decreased nerve conduction velocity, abnormal node of Ranvier morphology, and abnormal Schwann cell morphology.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    21
  • 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
    808
  • Tissues
    102
  • cDNA Data
    14
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000038861 Ensembl Gene Model | MGI Sequence Detail 32113 C57BL/6J ±  kb
    transcript ENSMUST00000125476 Ensembl | MGI Sequence Detail 3400 Not Applicable  
    polypeptide ENSMUSP00000121965 Ensembl | MGI Sequence Detail 828 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000012684 phosphatidylinositol 4-kinase beta
      (term hierarchy)
    • EC
      2.7.1.67
    • InterPro Domains
      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
      IPR049160 PI4KB/PIK1, accessory domain
      IPR011009 Protein kinase-like domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 15
      cDNA 14
      Primer pair 1

      Microarray probesets 4
    References
    more
    • Summaries
      All 45
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 8
      Phenotypes 14
    • Earliest
      J:52606 Eddleston J, et al., Physical and transcriptional map of a 3-Mb region of mouse chromosome 1 containing the gene for the neural tube defect mutant loop-tail (Lp). Genomics. 1999 Mar 1;56(2):149-59
    • Latest
      J:354266 Sang Y, et al., PI4KIIIbeta-Mediated Phosphoinositides Metabolism Regulates Function of the VTA Dopaminergic Neurons and Depression-Like Behavior. J Neurosci. 2024 Mar 13;44(11)
    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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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory