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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
Location & Maps
more
  • Sequence Map
    Chr2:181147653-181157014 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      9362 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 103.60 cM
  • Mapping Data
    9 experiments
Homology
more
  • Human Ortholog
    EEF1A2, eukaryotic translation elongation factor 1 alpha 2
  • Vertebrate Orthologs
    12
  • Human Ortholog
    EEF1A2, eukaryotic translation elongation factor 1 alpha 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    EEF1AL, EF1A, EF-1-alpha-2, EIEE33, HS1, MRD38, STN, STNL
  • Links
    NCBI Gene ID: 1917
    neXtProt AC: NX_Q05639

  • Chr Location
    20q13.3; chr20:63488012-63499315 (-)  GRCh38.p2
Human Diseases
more
  • Diseases
    2 with human EEF1A2 associations

Human Disease Mouse Models
       Epileptic Encephalopathy, Early Infantile, 33; EIEE33   OMIM: 616409
Mental Retardation, Autosomal Dominant 38; MRD38   OMIM: 616393
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
    22 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.
  • All Mutations and Alleles
    1
  • Spontaneous
    1
  • Incidental Mutations
    APF
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
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  • All GO Annotations
    16
  • GO References
    9
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
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
    89
  • Tissues
    68
  • cDNA Data
    4
  • Literature Summary
    7
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016559 VEGA Gene Model | MGI Sequence Detail 9362 C57BL/6J ±  kb
transcript OTTMUST00000040035 VEGA | MGI Sequence Detail 2084 Not Applicable  
polypeptide OTTMUSP00000017863 VEGA | MGI Sequence Detail 463 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    33 from dbSNP Build 142
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000006904 elongation factor 1-alpha 2
  • InterPro Domains
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
    IPR000795 Transcription factor, 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
    IPR031157 Tr-type G domain, conserved site
Molecular
Reagents
less
  • All nucleic 9
    Genomic 3
    cDNA 4
    Primer pair 2

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-15461, MGD-MRK-9306, MGI:95287, MGI:98966
References
more
  • Summaries
    All 62
    Developmental Gene Expression 7
    Gene Ontology 9
    Phenotypes 22
  • Earliest
    J:24753 Sweet HO, Wasted (wst). Mouse News Lett. 1981;65:27
  • Latest
    J:189690 Griffiths LA, et al., Haploinsufficiency for translation elongation factor eEF1A2 in aged mouse muscle and neurons is compatible with normal function. PLoS One. 2012;7(7):e41917
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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Send questions and comments to User Support. 		last database update
09/13/2016
MGI 6.05 		The Jackson Laboratory