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Eif2ak3 Gene Detail
Summary
  • Symbol
    Eif2ak3
  • Name
    eukaryotic translation initiation factor 2 alpha kinase 3
  • Synonyms
    PERK
  • Feature Type
    protein coding gene
  • IDs
    MGI:1341830
    NCBI Gene: 13666
  • Gene Overview
    MyGene.info: EIF2AK3
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr6:70844515-70905245 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      60731 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 32.09 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    EIF2AK3, eukaryotic translation initiation factor 2 alpha kinase 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    EIF2AK3, eukaryotic translation initiation factor 2 alpha kinase 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    PEK, PERK, WRS
  • Links
    NCBI Gene ID: 9451
    neXtProt AC: NX_Q9NZJ5
    UniProt: Q9NZJ5

  • Chr Location
    2p11.2; chr2:88556740-88627576 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Eif2ak3 mouse models; 1 with human EIF2AK3 associations

Human Disease Mouse Models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    47 phenotypes from 3 alleles in 5 genetic backgrounds
    19 phenotypes from multigenic genotypes
    2 images
    64 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous mutant mice develop exocrine pancreatic insufficiency and progressive diabetes mellitus. They are growth retarded, hyperglycemic, exhibit increased cell death in the pancreas, have decreased numbers of pancreatic beta cells and about half diebefore weaning.
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000031093 VEGA Gene Model | MGI Sequence Detail 60731 C57BL/6J ±  kb
    transcript OTTMUST00000077032 VEGA | MGI Sequence Detail 4513 Not Applicable  
    polypeptide OTTMUSP00000040627 VEGA | MGI Sequence Detail 1114 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      505 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • PDB
    • EC
    • InterPro Domains
      IPR000719 Protein kinase domain
      IPR011009 Protein kinase-like domain superfamily
      IPR011047 Quinoprotein alcohol dehydrogenase-like superfamily
      IPR008271 Serine/threonine-protein kinase, active site
      IPR015943 WD40/YVTN repeat-like-containing domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 15
      cDNA 12
      Primer pair 2
      Other 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:2141404
    References
    more
    • Summaries
      All 147
      Developmental Gene Expression 12
      Diseases 3
      Gene Ontology 30
      Phenotypes 64
    • Earliest
      J:51759 Harding HP, et al., Protein translation and folding are coupled by an endoplasmic-reticulum-resident kinase [published erratum appears in Nature 1999 Mar 4;398(6722):90] [see comments]. Nature. 1999 Jan 21;397(6716):271-4
    • Latest
      J:264586 Zimmermann HR, et al., Genetic removal of eIF2alpha kinase PERK in mice enables hippocampal L-LTP independent of mTORC1 activity. J Neurochem. 2018 Jul;146(2):133-144

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    10/09/2018
    MGI 6.12
    The Jackson Laboratory