Eef1a2 eukaryotic translation elongation factor 1 alpha 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Eef1a2provided by MGI
Official Full Name: eukaryotic translation elongation factor 1 alpha 2provided by MGI
Primary source: MGI:MGI:1096317
See related: Ensembl:ENSMUSG00000016349 AllianceGenome:MGI:1096317
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: S1; STN; wst; Eef1a; EEF1AL; wasted; EF-1-alpha-2
Summary: Enables translation elongation factor activity. Acts upstream of or within positive regulation of apoptotic process and translational elongation. Located in cytoplasm. Part of eukaryotic translation elongation factor 1 complex. Is active in synapse. Is expressed in several structures, including central nervous system; eye; genitourinary system; gut; and integumental system. Used to study autosomal dominant intellectual developmental disorder 38. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 38; developmental and epileptic encephalopathy 33; and ovarian cancer. Orthologous to human EEF1A2 (eukaryotic translation elongation factor 1 alpha 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in heart adult (RPKM 359.9), cerebellum adult (RPKM 338.2) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 H4; 2 103.6 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (180783551..180798808, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (181141758..181157015, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

eEF1A2 promotes PTEN-GSK3beta-SCF complex-dependent degradation of Aurora kinase A and is inactivated in breast cancer.
Title: eEF1A2 promotes PTEN-GSK3β-SCF complex-dependent degradation of Aurora kinase A and is inactivated in breast cancer.
Face-valid phenotypes in a mouse model of the most common mutation in EEF1A2-related neurodevelopmental disorder.
Title: Face-valid phenotypes in a mouse model of the most common mutation in EEF1A2-related neurodevelopmental disorder.
Autism- and epilepsy-associated EEF1A2 mutations lead to translational dysfunction and altered actin bundling.
Title: Autism- and epilepsy-associated EEF1A2 mutations lead to translational dysfunction and altered actin bundling.
Endogenous epitope tagging of eEF1A2 in mice reveals early embryonic expression of eEF1A2 and subcellular compartmentalisation of neuronal eEF1A1 and eEF1A2.
Title: Endogenous epitope tagging of eEF1A2 in mice reveals early embryonic expression of eEF1A2 and subcellular compartmentalisation of neuronal eEF1A1 and eEF1A2.
Loss of eEF1A2 (Eukaryotic Elongation Factor 1 A2) in Murine Myocardium Results in Dilated Cardiomyopathy.
Title: Loss of eEF1A2 (Eukaryotic Elongation Factor 1 A2) in Murine Myocardium Results in Dilated Cardiomyopathy.
Recapitulation of the EEF1A2 D252H neurodevelopmental disorder-causing missense mutation in mice reveals a toxic gain of function.
Title: Recapitulation of the EEF1A2 D252H neurodevelopmental disorder-causing missense mutation in mice reveals a toxic gain of function.
The presence of G70S protein was not sufficient to protect mice from neurodegeneration in G70S/- eEF1A2 mice, showing that the mutant protein is essentially non-functional.
Title: Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice.
This provides the first in vivo confirmation that eEF1A2 plays an important role in translation.
Title: In vivo characterization of the role of tissue-specific translation elongation factor 1A2 in protein synthesis reveals insights into muscle atrophy.
Heterozygous mutant mice showed no deficit in neuromuscular function or signs of spinal cord pathology, in spite of the low levels of eEF1A2
Title: Haploinsufficiency for translation elongation factor eEF1A2 in aged mouse muscle and neurons is compatible with normal function.
In-depth analysis using site-directed mutagenesis revealed that PKCbetaI could phosphorylate Ser(3) of the eEF1A2 isoform and that the association between eEF1A2 and PKCbetaI was dependent on the phosphorylation status of eEF1A2
Title: eEF1A phosphorylation in the nucleus of insulin-stimulated C2C12 myoblasts: Ser⁵³ is a novel substrate for protein kinase C βI.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4) 1 citation
Spontaneous (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Eef1a2 (e-PCR), detects polymorphism
- UniSTS:142969

Eef1a2 (e-PCR), detects polymorphism
- UniSTS:142970

L26479 (e-PCR)
- UniSTS:124889

PMC22512P1 (e-PCR)
- UniSTS:272114

PMC22512P2 (e-PCR)
- UniSTS:272115

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IEA Inferred from Electronic Annotation more info
enables protein kinase binding	IEA Inferred from Electronic Annotation more info
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables translation elongation factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables translation elongation factor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of lipid kinase activity	ISO Inferred from Sequence Orthology more info
involved_in translation	IBA Inferred from Biological aspect of Ancestor more info
involved_in translational elongation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within translational elongation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
part_of eukaryotic translation elongation factor 1 complex	IDA Inferred from Direct Assay more info	PubMed
located_in myelin sheath	HDA more info	PubMed
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
is_active_in synapse	EXP Inferred from Experiment more info	PubMed
is_active_in synapse	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: elongation factor 1-alpha 2

Names: eukaryotic elongation factor 1 A-2; statin-S1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.