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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
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:20317567-20328073 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 12.45 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    333 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2446176
 protein coding gene Chr16:20317544-20328073 (+)
129S1/SvImJ MGP_129S1SvImJ_G0022642
 protein coding gene Chr16:17835333-17848048 (+)
A/J MGP_AJ_G0022604
 protein coding gene Chr16:16972901-16984747 (+)
AKR/J MGP_AKRJ_G0022579
 protein coding gene Chr16:17623852-17635376 (+)
BALB/cJ MGP_BALBcJ_G0022608
 protein coding gene Chr16:17130821-17142403 (+)
C3H/HeJ MGP_C3HHeJ_G0022373
 protein coding gene Chr16:17778643-17791833 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023059
 protein coding gene Chr16:18170589-18193040 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020576
 protein coding gene Chr16:17665783-17676529 (+)
CAST/EiJ MGP_CASTEiJ_G0021903
 protein coding gene Chr16:17756559-17770532 (+)
CBA/J MGP_CBAJ_G0022345
 protein coding gene Chr16:18924697-18935755 (+)
DBA/2J MGP_DBA2J_G0022477
 protein coding gene Chr16:16903617-16915432 (+)
FVB/NJ MGP_FVBNJ_G0022452
 protein coding gene Chr16:16934486-16945539 (+)
LP/J MGP_LPJ_G0022544
 protein coding gene Chr16:17561247-17575458 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022472
 protein coding gene Chr16:18614433-18625785 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023070
 protein coding gene Chr16:17579713-17590773 (+)
PWK/PhJ MGP_PWKPhJ_G0021644
 protein coding gene Chr16:17164974-17176429 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021473
 protein coding gene Chr16:17386436-17397587 (+)
WSB/EiJ MGP_WSBEiJ_G0021947
 protein coding gene Chr16:17570392-17581584 (+)



Homology
more
  • Human Ortholog
    EIF2B5, eukaryotic translation initiation factor 2B subunit epsilon
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EIF2B5, eukaryotic translation initiation factor 2B subunit epsilon
  • Synonyms
    CACH, CLE, EIF-2B, EIF2Bepsilon, LVWM, VWM5
  • Links
    NCBI Gene ID: 8893
    neXtProt AC: NX_Q13144
    UniProt: Q13144

  • Chr Location
    3q27.1; chr3:184135038-184146127 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Eif2b5 mouse models; 2 with human EIF2B5 associations

Human Disease Mouse Models
      
IDs
 View 7 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    36 phenotypes from 5 alleles in 7 genetic backgrounds
    19 phenotypes from multigenic genotypes
    23 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
less
  • All GO Annotations
    55
  • GO References
    9
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
    747
  • Tissues
    27
  • cDNA Data
    77
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000003235 Ensembl Gene Model | MGI Sequence Detail 10507 C57BL/6J ±  kb
    transcript ENSMUST00000003320 Ensembl | MGI Sequence Detail 2554 Not Applicable  
    polypeptide ENSMUSP00000003320 Ensembl | MGI Sequence Detail 717 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000006966 translation initiation factor eIF2B subunit epsilon
      (term hierarchy)
    • InterPro Domains
      IPR016024 Armadillo-type fold
      IPR051956 eIF2B Complex Subunit Epsilon
      IPR029044 Nucleotide-diphospho-sugar transferases
      IPR035543 Translation initiation factor eIF-2B subunit epsilon, N-terminal
      IPR044123 Translation initiation factor eIF-2B subunit epsilon, W2 domain
      IPR011004 Trimeric LpxA-like superfamily
      IPR003307 W2 domain
    • GlyGen
      Q8CHW4 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 77
      cDNA 77

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2146712
    References
    more
    • Summaries
      All 57
      Developmental Gene Expression 2
      Diseases 4
      Gene Ontology 9
      Phenotypes 23
    • 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:350737 Witkamp D, et al., Lithium: effects in animal models of vanishing white matter are not promising. Front Neurosci. 2024;18:1275744
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory