EEF1A2 eukaryotic translation elongation factor 1 alpha 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EEF1A2provided by HGNC
Official Full Name: eukaryotic translation elongation factor 1 alpha 2provided by HGNC
Primary source: HGNC:HGNC:3192
See related: Ensembl:ENSG00000101210 MIM:602959; AllianceGenome:HGNC:3192
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HS1; STN; EF1A; STNL; DEE33; MRD38; EEF1AL; EIEE33; EF-1-alpha-2
Summary: This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas. This gene may be critical in the development of ovarian cancer. [provided by RefSeq, Mar 2014]
Expression: Biased expression in heart (RPKM 211.2), brain (RPKM 133.2) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.33

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (63488014..63499083, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (65299508..65311765, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (62119367..62130436, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Understanding functions of eEF1 translation elongation factors beyond translation. A proteomic approach.
Title: Understanding functions of eEF1 translation elongation factors beyond translation. A proteomic approach.
Hypoxia-induced circ-CDYL-EEF1A2 transcriptional complex drives lung metastasis of cancer stem cells from hepatocellular carcinoma.
Title: Hypoxia-induced circ-CDYL-EEF1A2 transcriptional complex drives lung metastasis of cancer stem cells from hepatocellular carcinoma.
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.
Eukaryotic Elongation Factor 1Alpha-2 (EEF1A2) Participates in the Progression of Gastric Cancer via Interaction with Heat Shock Protein B8 (HSPB8).
Title: Eukaryotic Elongation Factor 1Alpha-2 (EEF1A2) Participates in the Progression of Gastric Cancer via Interaction with Heat Shock Protein B8 (HSPB8).
eEF1A2 siRNA Suppresses MPP[+]-Induced Activation of Akt and mTOR and Potentiates Caspase-3 Activation in a Parkinson's Disease Model.
Title: eEF1A2 siRNA Suppresses MPP(+)-Induced Activation of Akt and mTOR and Potentiates Caspase-3 Activation in a Parkinson's Disease Model.
Analysis of eEF1A2 gene expression and copy number in cervical carcinoma.
Title: Analysis of eEF1A2 gene expression and copy number in cervical carcinoma.
Analysis of the Expression and Subcellular Distribution of eEF1A1 and eEF1A2 mRNAs during Neurodevelopment.
Title: Analysis of the Expression and Subcellular Distribution of eEF1A1 and eEF1A2 mRNAs during Neurodevelopment.
eEF1A2 knockdown impairs neuronal proliferation and inhibits neurite outgrowth of differentiating neurons.
Title: eEF1A2 knockdown impairs neuronal proliferation and inhibits neurite outgrowth of differentiating neurons.
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.
Title: Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.
EEF1A2 interacts with HSP90AB1 to promote lung adenocarcinoma metastasis via enhancing TGF-beta/SMAD signalling.
Title: EEF1A2 interacts with HSP90AB1 to promote lung adenocarcinoma metastasis via enhancing TGF-β/SMAD signalling.

Submit: New GeneRIF Correction See all GeneRIFs (64)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Developmental and epileptic encephalopathy, 33 MedGen: C4225337 OMIM: 616409 GeneReviews: Not available	Compare labs
Intellectual disability, autosomal dominant 38 MedGen: C4225343 OMIM: 616393 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2023-06-13) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2023-06-13) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	EF-1alpha stimulates the binding of RNA Polymerase II and TRP-185 to HIV-1 TAR RNA, suggesting an interaction between EF-1alpha and HIV-1 Tat	PubMed

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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:142970

L26479 (e-PCR)
- UniSTS:124889

Gene Ontology Provided by GOA

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 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables translation elongation factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables translation factor activity, RNA binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of lipid kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of chaperone-mediated autophagy	NAS Non-traceable Author Statement more info	PubMed
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

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic side of lysosomal membrane	NAS Non-traceable Author Statement more info	PubMed
part_of eukaryotic translation elongation factor 1 complex	IEA Inferred from Electronic Annotation more info
NOT located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	IEA Inferred from Electronic Annotation more info

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.