EIF4A2 eukaryotic translation initiation factor 4A2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EIF4A2provided by HGNC
Official Full Name: eukaryotic translation initiation factor 4A2provided by HGNC
Primary source: HGNC:HGNC:3284
See related: Ensembl:ENSG00000156976 MIM:601102; AllianceGenome:HGNC:3284
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DDX2B; EIF4A; EIF4F; BM-010; NEDHSS; eIF4A-II; eIF-4A-II
Summary: Enables ATP hydrolysis activity. Involved in negative regulation of RNA-dependent RNA polymerase activity. Located in perinuclear region of cytoplasm. Implicated in neurodevelopmental disorder with hypotonia and speech delay. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in ovary (RPKM 426.9), brain (RPKM 313.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q27.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (186783577..186789897)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (189605607..189611927)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (186501366..186507686)

Chromosome 3 - NC_000003.12 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 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?

Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.
Title: Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.
Monitoring RNA restructuring in a human cell-free extract reveals eIF4A-dependent and eIF4A-independent unwinding activity.
Title: Monitoring RNA restructuring in a human cell-free extract reveals eIF4A-dependent and eIF4A-independent unwinding activity.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Title: Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
exerts its repressive effect on translation initiation by binding purine-rich motifs which are enriched in the 5'UTR of target mRNAs directly upstream of the AUG start codon
Title: eIF4A2 drives repression of translation at initiation by Ccr4-Not through purine-rich motifs in the 5'UTR.
Data show that incorporation of ATP-dependent RNA helicase eIF4A-2 (eIF4A2) into the CCR4-NOT complex inhibits CCR4-NOT transcription complex subunit 7 (CNOT7) deadenylation activity.
Title: DEAD-box helicase eIF4A2 inhibits CNOT7 deadenylation activity.
high EIF4A2 expression predicts poor prognosis of CRC patients and is associated with distant metastasis and poor response to oxaliplatin. Knocking-down EIF4A2 inhibits sphere formation and experimental metastasis, as well as oxaliplatin resistance in CRC.
Title: Eukaryotic initiation factor 4A2 promotes experimental metastasis and oxaliplatin resistance in colorectal cancer.
EIF4A2 was confirmed as a potential target of miR-5195-3p. MicroRNA-5195-3p enhances the chemosensitivity of triple-negative breast cancer (TNBC) to paclitaxel (PTX) by downregulating EIF4A2.
Title: MicroRNA-5195-3p enhances the chemosensitivity of triple-negative breast cancer to paclitaxel by downregulating EIF4A2.
Eukaryotic translation initiation factor 4A2 (eIF4A2) is necessary for efficient HIV-1 replication in human lymphoid cell line. eIF4A2 depletion reduces the efficiency of viral cDNA synthesis with virion entry into target cells being unaffected. Depletion of eIF4A2 also inhibits HIV-1 spreading infection in a knockdown level-dependent manner.
Title: eIF4A2 is a host factor required for efficient HIV-1 replication.
eIF4A2 is recruited to stress granules, suggesting sumoylation of eIF4A2 correlates with its recruitment to stress granules.
Title: Sumoylation of eIF4A2 affects stress granule formation.
Studies indicate a developing focus on targeting eukaryotic initiation factor 4A eIF4A1 and eIF4A2 as cancer therapy.
Title: Translational dysregulation in cancer: eIF4A isoforms and sequence determinants of eIF4A dependence.

Submit: New GeneRIF Correction See all GeneRIFs (20)

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
Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures MedGen: C5830654 OMIM: 620455 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2. 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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Replication interactions

Interaction	Pubs
Knockdown of eukaryotic translation initiation factor 4A2 (EIF4A2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	Expression of HIV-1 Gag requires eIF4E, eIF4G, and eIF4A (eIF4F) binding to the viral 5'UTR	PubMed
retropepsin	gag-pol	Positional proteomics analysis identifies the cleavage of human eukaryotic translation initiation factor 4A2 (EIF4A2) at amino acid residues 375-376 by the HIV-1 protease	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

SGC31473 (e-PCR)
- UniSTS:67094

UTR-9640 (e-PCR)
- UniSTS:67095

SHGC-30529 (e-PCR)
- UniSTS:39998

D3S2828E (e-PCR)
- UniSTS:150864

RH68259 (e-PCR)
- UniSTS:85133

G67572 (e-PCR)
- UniSTS:207054

G67574 (e-PCR)
- UniSTS:207056

RH46123 (e-PCR)
- UniSTS:87256

D3S3408 (e-PCR)
- UniSTS:153853

D20S1005 (e-PCR)
- UniSTS:154621

SHGC-77594 (e-PCR)
- UniSTS:63485

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	HDA more info	PubMed
enables RNA helicase activity	IEA Inferred from Electronic Annotation more info
enables helicase activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables translation initiation factor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cellular response to leukemia inhibitory factor	IEA Inferred from Electronic Annotation more info
involved_in cytoplasmic translational initiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of RNA-dependent RNA polymerase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of translational initiation	TAS Traceable Author Statement more info	PubMed
involved_in translational initiation	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
part_of eukaryotic translation initiation factor 4F complex	NAS Non-traceable Author Statement more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: eukaryotic initiation factor 4A-II

Names: ATP-dependent RNA helicase eIF4A-2

NP_001958.2

EC 3.6.4.13

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.