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Eef1a2 Gene Detail
Summary
  • Symbol
    Eef1a2
  • Name
    eukaryotic translation elongation factor 1 alpha 2
  • Synonyms
    Eef1a, S1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1096317
    NCBI Gene: 13628
  • Gene Overview
    MyGene.info: EEF1A2
  • Alliance
    gene page
  • Transcription Start Sites
    19 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:180789446-180798807 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 103.60 cM
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    32 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1096317
 protein coding gene Chr2:180783551-180798808 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027011
 protein coding gene Chr2:187721172-187731455 (-)
A/J MGP_AJ_G0026977
 protein coding gene Chr2:180002388-180011760 (-)
AKR/J MGP_AKRJ_G0026947
 protein coding gene Chr2:185394527-185403959 (-)
BALB/cJ MGP_BALBcJ_G0026986
 protein coding gene Chr2:180464419-180473806 (-)
C3H/HeJ MGP_C3HHeJ_G0026727
 protein coding gene Chr2:185752116-185761487 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027432
 protein coding gene Chr2:193142754-193152115 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024797
 protein coding gene Chr2:170686095-170695372 (-)
CAST/EiJ MGP_CASTEiJ_G0026186
 protein coding gene Chr2:184004628-184013990 (-)
CBA/J MGP_CBAJ_G0026704
 protein coding gene Chr2:200142678-200153337 (-)
DBA/2J MGP_DBA2J_G0026842
 protein coding gene Chr2:179094028-179103412 (-)
FVB/NJ MGP_FVBNJ_G0026808
 protein coding gene Chr2:177711930-177721281 (-)
LP/J MGP_LPJ_G0026943
 protein coding gene Chr2:187733798-187743223 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026827
 protein coding gene Chr2:202713760-202723737 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027491
 protein coding gene Chr2:185365358-185374734 (-)
PWK/PhJ MGP_PWKPhJ_G0025922
 protein coding gene Chr2:176620034-176629500 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025722
 protein coding gene Chr2:181843593-181861670 (-)
WSB/EiJ MGP_WSBEiJ_G0026258
 protein coding gene Chr2:186349041-186359579 (-)



Homology
more
  • Human Ortholog
    EEF1A2, eukaryotic translation elongation factor 1 alpha 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EEF1A2, eukaryotic translation elongation factor 1 alpha 2
  • Synonyms
    DEE33, EEF1AL, EF1A, EF-1-alpha-2, EIEE33, HS1, MRD38, STN, STNL
  • Links
    NCBI Gene ID: 1917
    neXtProt AC: NX_Q05639
    UniProt: Q05639

  • Chr Location
    20q13.33; chr20:63488012-63499315 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    2 with human EEF1A2 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    27 phenotypes from 1 allele in 3 genetic backgrounds
    25 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.
Homozygotes for a spontaneous mutation exhibit muscle wasting, lymphoid hypoplasia, lack of intestinal IgA plasma cells, cerebellar dysfunction, neurodegeneration, an age-dependent increase in chromosomal aberrations, and lethality around 28 days of age.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    20
  • GO References
    10
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 population 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
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
    761
  • Tissues
    68
  • cDNA Data
    6
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000016349 Ensembl Gene Model | MGI Sequence Detail 9362 C57BL/6J ±  kb
    transcript ENSMUST00000055990 Ensembl | MGI Sequence Detail 2084 Not Applicable  
    polypeptide ENSMUSP00000054556 Ensembl | MGI Sequence Detail 463 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000006904 elongation factor 1-alpha 2
      (term hierarchy)
    • InterPro Domains
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
      IPR000795 Translational (tr)-type GTP-binding domain
      IPR004539 Translation elongation factor EF1A, eukaryotic/archaeal
      IPR009001 Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal
      IPR004160 Translation elongation factor EFTu/EF1A, C-terminal
      IPR004161 Translation elongation factor EFTu-like, domain 2
      IPR009000 Translation protein, beta-barrel domain superfamily
      IPR031157 Tr-type G domain, conserved site
    Molecular
    Reagents
    less
    • All nucleic 11
      Genomic 3
      cDNA 6
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-15461, MGD-MRK-9306, MGI:95287, MGI:98966
    References
    more
    • Summaries
      All 72
      Developmental Gene Expression 8
      Gene Ontology 10
      Phenotypes 25
    • Earliest
      J:6766 Shultz LD, et al., 'Wasted', a new mutant of the mouse with abnormalities characteristic to ataxia telangiectasia. Nature. 1982 Jun 3;297(5865):402-4
    • Latest
      J:296080 Davies FCJ, et al., Recapitulation of the EEF1A2 D252H neurodevelopmental disorder-causing missense mutation in mice reveals a toxic gain of function. Hum Mol Genet. 2020 Jun 27;29(10):1592-1606
    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
    01/18/2022
    MGI 6.17     		The Jackson Laboratory