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Eif2b5 Gene Detail
Summary
  • Symbol
    Eif2b5
  • Name
    eukaryotic translation initiation factor 2B, subunit 5 epsilon
  • Feature Type
    protein coding gene
  • IDs
    MGI:2446176
    NCBI Gene: 224045
  • Gene Overview
    MyGene.info: EIF2B5
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr16:20498817-20509955 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      11139 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 12.45 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    EIF2B5, eukaryotic translation initiation factor 2B subunit epsilon
  • Vertebrate Orthologs
    10
  • Human Ortholog
    EIF2B5, eukaryotic translation initiation factor 2B subunit epsilon
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CACH, CLE, EIF-2B, EIF2Bepsilon, LVWM
  • Links
    NCBI Gene ID: 8893
    neXtProt AC: NX_Q13144
    UniProt: Q13144

  • Chr Location
    3q27.1; chr3:184134435-184145311 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 2903
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: EIF2B5
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Eif2b5 mouse models; 1 with human EIF2B5 associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    15 phenotypes from 2 alleles in 4 genetic backgrounds
    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 knock-in allele exhibit abnormal brain white matter development, decreased body fat, demyelination, impaired recovery from cuprizone-induced demyelination, and impaired coordination.
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
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000025977 VEGA Gene Model | MGI Sequence Detail 11139 C57BL/6J ±  kb
    transcript OTTMUST00000064059 VEGA | MGI Sequence Detail 3186 Not Applicable  
    polypeptide OTTMUSP00000031765 VEGA | MGI Sequence Detail 717 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      117 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 76
      cDNA 76

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2146712
    References
    more
    • Summaries
      All 40
      Developmental Gene Expression 1
      Diseases 2
      Gene Ontology 5
      Phenotypes 11
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • Latest
      J:242705 Raini G, et al., Mutant eIF2B leads to impaired mitochondrial oxidative phosphorylation in vanishing white matter disease. J Neurochem. 2017 Jun;141(5):694-707

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    06/12/2018
    MGI 6.12
    The Jackson Laboratory