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Eif2b4 Gene Detail
Summary
  • Symbol
    Eif2b4
  • Name
    eukaryotic translation initiation factor 2B, subunit 4 delta
  • Synonyms
    Eif2b
  • Feature Type
    protein coding gene
  • IDs
    MGI:95300
    NCBI Gene: 13667
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:31344902-31350483 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 17.24 cM, cytoband B1
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    25 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95300
 protein coding gene Chr5:31344902-31350774 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029415
 protein coding gene Chr5:29176199-29182007 (-)
A/J MGP_AJ_G0029381
 protein coding gene Chr5:28216720-28222628 (-)
AKR/J MGP_AKRJ_G0029331
 protein coding gene Chr5:29367541-29373420 (-)
BALB/cJ MGP_BALBcJ_G0029392
 protein coding gene Chr5:28732984-28738652 (-)
C3H/HeJ MGP_C3HHeJ_G0029113
 protein coding gene Chr5:29381255-29389118 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029845
 protein coding gene Chr5:30982014-30987886 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027083
 protein coding gene Chr5:25683728-25689304 (-)
CAST/EiJ MGP_CASTEiJ_G0028523
 protein coding gene Chr5:28469136-28475291 (-)
CBA/J MGP_CBAJ_G0029081
 protein coding gene Chr5:31551652-31557532 (-)
DBA/2J MGP_DBA2J_G0029230
 protein coding gene Chr5:28394479-28400139 (-)
FVB/NJ MGP_FVBNJ_G0029188
 protein coding gene Chr5:27811870-27817804 (-)
LP/J MGP_LPJ_G0029315
 protein coding gene Chr5:29631002-29636651 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029217
 protein coding gene Chr5:32423435-32430469 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029879
 protein coding gene Chr5:28883128-28889000 (-)
PWK/PhJ MGP_PWKPhJ_G0028248
 protein coding gene Chr5:27517054-27522991 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028078
 protein coding gene Chr5:28269053-28274877 (-)
WSB/EiJ MGP_WSBEiJ_G0028604
 protein coding gene Chr5:28947420-28953228 (-)



Homology
more
  • Human Ortholog
    EIF2B4, eukaryotic translation initiation factor 2B subunit delta
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EIF2B4, eukaryotic translation initiation factor 2B subunit delta
  • Synonyms
    EIF2B, EIF-2B, EIF2Bdelta, VWM4
  • Links
    NCBI Gene ID: 8890
    neXtProt AC: NX_Q9UI10
    UniProt: Q9UI10

  • Chr Location
    2p23.3; chr2:27364352-27370338 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Eif2b4 mouse models; 1 with human EIF2B4 associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
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
less
  • Phenotype Summary
    7 phenotypes from 1 allele in 1 genetic background
    19 phenotypes from multigenic genotypes
    34 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 single point mutation exhibit decreased body weight, progressive ataxia, sporadic seizures, clinical features of vanishing cerebellum white matter, abnormal white matter astrocytes, retinal laminar disorganization, and premature death.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    32
  • GO References
    6
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
non-membrane-bounded 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
    786
  • Tissues
    45
  • cDNA Data
    97
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13667 NCBI Gene Model | MGI Sequence Detail 5582 C57BL/6J ±  kb
    transcript NM_001127356 RefSeq | MGI Sequence Detail 2119 C57BL/6  
    polypeptide Q61749 UniProt | EBI | MGI Sequence Detail 524 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 97
      cDNA 97

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-9333
    References
    more
    • Summaries
      All 62
      Developmental Gene Expression 2
      Diseases 2
      Gene Ontology 6
      Phenotypes 34
    • Earliest
      J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
    • Latest
      J:344166 Oudejans E, et al., Pridopidine subtly ameliorates motor skills in a mouse model for vanishing white matter. Life Sci Alliance. 2024 Mar;7(3)
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory