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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
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:70821499-70882229 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 32.09 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2040 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1341830
 protein coding gene Chr6:70821468-70882229 (+)
129S1/SvImJ MGP_129S1SvImJ_G0030849
 protein coding gene Chr6:71280118-71345472 (+)
A/J MGP_AJ_G0030819
 protein coding gene Chr6:68548066-68613130 (+)
AKR/J MGP_AKRJ_G0030748
 protein coding gene Chr6:70531018-70590433 (+)
BALB/cJ MGP_BALBcJ_G0030830
 protein coding gene Chr6:68578123-68642498 (+)
C3H/HeJ MGP_C3HHeJ_G0030882
 protein coding gene Chr6:113672629-113735294 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031288
 protein coding gene Chr6:73159737-73226218 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028477
 protein coding gene Chr6:67739569-67799043 (+)
CAST/EiJ MGP_CASTEiJ_G0029938
 protein coding gene Chr6:70359406-70421865 (+)
CBA/J MGP_CBAJ_G0030517
 protein coding gene Chr6:76044882-76111324 (+)
DBA/2J MGP_DBA2J_G0030669
 protein coding gene Chr6:67924299-67986324 (+)
FVB/NJ MGP_FVBNJ_G0030622
 protein coding gene Chr6:67294513-67355852 (+)
LP/J MGP_LPJ_G0030748
 protein coding gene Chr6:71211143-71276131 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030657
 protein coding gene Chr6:79584435-79648047 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031314
 protein coding gene Chr6:70355247-70423069 (+)
PWK/PhJ MGP_PWKPhJ_G0029654
 protein coding gene Chr6:66782329-66843761 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029482
 protein coding gene Chr6:69081437-69142336 (+)
WSB/EiJ MGP_WSBEiJ_G0030020
 protein coding gene Chr6:70691911-70753081 (+)



Homology
more
  • Human Ortholog
    EIF2AK3, eukaryotic translation initiation factor 2 alpha kinase 3
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EIF2AK3, eukaryotic translation initiation factor 2 alpha kinase 3
  • Synonyms
    PEK, PERK, WRS
  • Links
    NCBI Gene ID: 9451
    neXtProt AC: NX_Q9NZJ5
    UniProt: Q9NZJ5

  • Chr Location
    2p11.2; chr2:88556741-88691518 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Eif2ak3 mouse models; 2 with human EIF2AK3 associations

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

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    47 phenotypes from 3 alleles in 4 genetic backgrounds
    11 phenotypes from multigenic genotypes
    2 images
    111 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.
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
less
  • All GO Annotations
    113
  • GO References
    36
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
    745
  • Tissues
    25
  • cDNA Data
    12
  • Literature Summary
    26
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031668 Ensembl Gene Model | MGI Sequence Detail 60731 C57BL/6J ±  kb
    transcript ENSMUST00000034093 Ensembl | MGI Sequence Detail 4513 Not Applicable  
    polypeptide ENSMUSP00000034093 Ensembl | MGI Sequence Detail 1114 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000006960 eukaryotic translation initiation factor 2-alpha kinase 3
      (term hierarchy)
    • PDB
      3QD2, 4YZY
    • EC
      2.7.11.1
    • InterPro Domains
      IPR050339 Cell Cycle and Stress Response Kinase
      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
    • GlyGen
      Q9Z2B5 1 site, 1 N-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 19
      cDNA 12
      Primer pair 5
      Other 2

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:2141404
    References
    more
    • Summaries
      All 232
      Developmental Gene Expression 26
      Diseases 2
      Gene Ontology 36
      Phenotypes 111
    • 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:354587 Nedomova M, et al., DDI2 protease controls embryonic development and inflammation via TCF11/NRF1. iScience. 2024 Oct 18;27(10):110893
    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
    11/05/2024
    MGI 6.24     		The Jackson Laboratory