Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   
X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

EIF4A2 (eukaryotic translation initiation factor 4A, isoform 2)

Written2000-07Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namesEIF4F
eukaryotic translation initiation factor 4A
Alias_symbol (synonym)DDX2B
EIF4A
BM-010
Other alias
HGNC (Hugo) EIF4A2
LocusID (NCBI) 1974
Atlas_Id 262
Location 3q27.3  [Link to chromosome band 3q27]
Location_base_pair Starts at 186783572 and ends at 186789896 bp from pter ( according to hg19-Feb_2009)  [Mapping EIF4A2.png]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ACTR2 (2p14) / EIF4A2 (3q27.3)ATP6V1C2 (2p25.1) / EIF4A2 (3q27.3)BCL6 (3q27.3) / EIF4A2 (3q27.3)
CTSB (8p23.1) / EIF4A2 (3q27.3)DLG5 (10q22.3) / EIF4A2 (3q27.3)EIF4A2 (3q27.3) / BCL6 (3q27.3)
EIF4A2 (3q27.3) / EIF4A2 (3q27.3)EIF4A2 (3q27.3) / FUS (16p11.2)EIF4A2 (3q27.3) / LMNA (1q22)
EIF4A2 (3q27.3) / PPDPF (20q13.33)EIF4A2 (3q27.3) / TGFBI (5q31.1)KIAA1217 (10p12.2) / EIF4A2 (3q27.3)
NOM1 (7q36.3) / EIF4A2 (3q27.3)

DNA/RNA

Transcription 1.9 kb mRNA; 1223 bp coding sequence

Protein

Description 407 amino acids; 4.6 kDa; NH2-term, ATP binding site, DEAD box, COOH-term
Expression wide; also expressed in the embryo
Function ADP/ATP binding; RNA helicase; binds mRNA to the ribosome: role in initiation of protein synthesis; also -binds single strand DNA
Homology DEAD box proteins, in particular other EIF4A

Implicated in

Note
  
Entity t(3;18)(q27;p11.2) --> EIF4A2/ BCL6
Disease non-Hodgkin lymphoma
Prognosis yet unknown (only 1case available)
Hybrid/Mutated Gene 5' EIF4A2 - 3' BCL6; EIF4A2 fuses with the second exon of BCL6
Abnormal Protein no fusion protein, but promoter exchange
Oncogenesis BCL6 is a transcription repressor; it is supposed that substitution of the promoter of BCL6 may be responsible for BCL6 deregulation
  

Bibliography

Eukaryotic translation initiation factor 4AIII (eIF4AIII) is functionally distinct from eIF4AI and eIF4AII.
Li Q, Imataka H, Morino S, Rogers GW Jr, Richter-Cook NJ, Merrick WC, Sonenberg N
Molecular and cellular biology. 1999 ; 19 (11) : 7336-7346.
PMID 10523622
 
The DEAD box protein eIF4A. 2. A cycle of nucleotide and RNA-dependent conformational changes.
Lorsch JR, Herschlag D
Biochemistry. 1998 ; 37 (8) : 2194-2206.
PMID 9485365
 
Isolation and mapping of the human EIF4A2 gene homologous to the murine protein synthesis initiation factor 4A-II gene Eif4a2.
Sudo K, Takahashi E, Nakamura Y
Cytogenetics and cell genetics. 1995 ; 71 (4) : 385-388.
PMID 8521730
 
Identification of heterologous translocation partner genes fused to the BCL6 gene in diffuse large B-cell lymphomas: 5'-RACE and LA - PCR analyses of biopsy samples.
Yoshida S, Kaneita Y, Aoki Y, Seto M, Mori S, Moriyama M
Oncogene. 1999 ; 18 (56) : 7994-7999.
PMID 10637510
 

Citation

This paper should be referenced as such :
Huret, JL
EIF4A2 (eukaryotic translation initiation factor 4A, isoform 2)
Atlas Genet Cytogenet Oncol Haematol. 2000;4(3):105-106.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/EIF4A2ID262.html

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 3 ]
  3q27 rearrangements (BCL6) in non Hodgkin lymphoma::t(3;Var)(q27;Var) in non Hodgkin lymphoma
t(3;3)(q27;q28) EIF4A2/BCL6
EIF4A2/BCL6 (3q27)

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(3;8)(q27;p23) CTSB/EIF4A2

External links

Nomenclature
HGNC (Hugo)EIF4A2   3284
Cards
AtlasEIF4A2ID262
Entrez_Gene (NCBI)EIF4A2  1974  eukaryotic translation initiation factor 4A2
AliasesBM-010; DDX2B; EIF4A; EIF4F; 
eIF-4A-II; eIF4A-II
GeneCards (Weizmann)EIF4A2
Ensembl hg19 (Hinxton)ENSG00000156976 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000156976 [Gene_View]  ENSG00000156976 [Sequence]  chr3:186783572-186789896 [Contig_View]  EIF4A2 [Vega]
ICGC DataPortalENSG00000156976
TCGA cBioPortalEIF4A2
AceView (NCBI)EIF4A2
Genatlas (Paris)EIF4A2
WikiGenes1974
SOURCE (Princeton)EIF4A2
Genetics Home Reference (NIH)EIF4A2
Genomic and cartography
GoldenPath hg38 (UCSC)EIF4A2  -     chr3:186783572-186789896 +  3q27.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EIF4A2  -     3q27.3   [Description]    (hg19-Feb_2009)
EnsemblEIF4A2 - 3q27.3 [CytoView hg19]  EIF4A2 - 3q27.3 [CytoView hg38]
Mapping of homologs : NCBIEIF4A2 [Mapview hg19]  EIF4A2 [Mapview hg38]
OMIM601102   
Gene and transcription
Genbank (Entrez)AB209021 AF208852 AK130087 AK225646 AK296279
RefSeq transcript (Entrez)NM_001967
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EIF4A2
Cluster EST : UnigeneHs.599481 [ NCBI ]
CGAP (NCI)Hs.599481
Alternative Splicing GalleryENSG00000156976
Gene ExpressionEIF4A2 [ NCBI-GEO ]   EIF4A2 [ EBI - ARRAY_EXPRESS ]   EIF4A2 [ SEEK ]   EIF4A2 [ MEM ]
Gene Expression Viewer (FireBrowse)EIF4A2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1974
GTEX Portal (Tissue expression)EIF4A2
Human Protein AtlasENSG00000156976-EIF4A2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14240   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14240  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14240
Splice isoforms : SwissVarQ14240
Catalytic activity : Enzyme3.6.4.13 [ Enzyme-Expasy ]   3.6.4.133.6.4.13 [ IntEnz-EBI ]   3.6.4.13 [ BRENDA ]   3.6.4.13 [ KEGG ]   
PhosPhoSitePlusQ14240
Domaine pattern : Prosite (Expaxy)DEAD_ATP_HELICASE (PS00039)    HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)    Q_MOTIF (PS51195)   
Domains : Interpro (EBI)DEAD/DEAH_box_helicase_dom    EIF4A    Helicase_ATP-bd    Helicase_C    P-loop_NTPase    RNA-helicase_DEAD-box_CS    RNA_helicase_DEAD_Q_motif   
Domain families : Pfam (Sanger)DEAD (PF00270)    Helicase_C (PF00271)   
Domain families : Pfam (NCBI)pfam00270    pfam00271   
Domain families : Smart (EMBL)DEXDc (SM00487)  HELICc (SM00490)  
Conserved Domain (NCBI)EIF4A2
DMDM Disease mutations1974
Blocks (Seattle)EIF4A2
PDB (SRS)3BOR   
PDB (PDBSum)3BOR   
PDB (IMB)3BOR   
PDB (RSDB)3BOR   
Structural Biology KnowledgeBase3BOR   
SCOP (Structural Classification of Proteins)3BOR   
CATH (Classification of proteins structures)3BOR   
SuperfamilyQ14240
Human Protein Atlas [tissue]ENSG00000156976-EIF4A2 [tissue]
Peptide AtlasQ14240
HPRD03062
IPIIPI00328328   IPI00409717   IPI00794607   IPI00791914   IPI00030296   IPI00815667   IPI00924536   IPI00927480   IPI00927306   IPI00927069   
Protein Interaction databases
DIP (DOE-UCLA)Q14240
IntAct (EBI)Q14240
FunCoupENSG00000156976
BioGRIDEIF4A2
STRING (EMBL)EIF4A2
ZODIACEIF4A2
Ontologies - Pathways
QuickGOQ14240
Ontology : AmiGORNA binding  translation initiation factor activity  helicase activity  protein binding  ATP binding  cytosol  translational initiation  regulation of translational initiation  viral process  eukaryotic translation initiation factor 4F complex  ATPase activity  perinuclear region of cytoplasm  negative regulation of RNA-directed 5'-3' RNA polymerase activity  
Ontology : EGO-EBIRNA binding  translation initiation factor activity  helicase activity  protein binding  ATP binding  cytosol  translational initiation  regulation of translational initiation  viral process  eukaryotic translation initiation factor 4F complex  ATPase activity  perinuclear region of cytoplasm  negative regulation of RNA-directed 5'-3' RNA polymerase activity  
Pathways : KEGGRNA transport   
REACTOMEQ14240 [protein]
REACTOME PathwaysR-HSA-72706 [pathway]   
NDEx NetworkEIF4A2
Atlas of Cancer Signalling NetworkEIF4A2
Wikipedia pathwaysEIF4A2
Orthology - Evolution
OrthoDB1974
GeneTree (enSembl)ENSG00000156976
Phylogenetic Trees/Animal Genes : TreeFamEIF4A2
HOVERGENQ14240
HOGENOMQ14240
Homologs : HomoloGeneEIF4A2
Homology/Alignments : Family Browser (UCSC)EIF4A2
Gene fusions - Rearrangements
Fusion : MitelmanCTSB/EIF4A2 [8p23.1/3q27.3]  [t(3;8)(q27;p23)]  
Fusion : MitelmanEIF4A2/BCL6 [3q27.3/3q27.3]  [inv(3)(q27q27)]  [t(3;3)(q27;q27)]  
Fusion PortalCTSB 8p23.1 EIF4A2 3q27.3 THCA
Fusion : QuiverEIF4A2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEIF4A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EIF4A2
dbVarEIF4A2
ClinVarEIF4A2
1000_GenomesEIF4A2 
Exome Variant ServerEIF4A2
ExAC (Exome Aggregation Consortium)ENSG00000156976
GNOMAD BrowserENSG00000156976
Varsome BrowserEIF4A2
Genetic variants : HAPMAP1974
Genomic Variants (DGV)EIF4A2 [DGVbeta]
DECIPHEREIF4A2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEIF4A2 
Mutations
ICGC Data PortalEIF4A2 
TCGA Data PortalEIF4A2 
Broad Tumor PortalEIF4A2
OASIS PortalEIF4A2 [ Somatic mutations - Copy number]
Cancer Gene: CensusEIF4A2 
Somatic Mutations in Cancer : COSMICEIF4A2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEIF4A2
intOGen PortalEIF4A2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EIF4A2
DgiDB (Drug Gene Interaction Database)EIF4A2
DoCM (Curated mutations)EIF4A2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EIF4A2 (select a term)
intoGenEIF4A2
NCG5 (London)EIF4A2
Cancer3DEIF4A2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601102   
Orphanet
DisGeNETEIF4A2
MedgenEIF4A2
Genetic Testing Registry EIF4A2
NextProtQ14240 [Medical]
TSGene1974
GENETestsEIF4A2
Target ValidationEIF4A2
Huge Navigator EIF4A2 [HugePedia]
snp3D : Map Gene to Disease1974
BioCentury BCIQEIF4A2
ClinGenEIF4A2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1974
Chemical/Pharm GKB GenePA27712
Clinical trialEIF4A2
Miscellaneous
canSAR (ICR)EIF4A2 (select the gene name)
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEIF4A2
EVEXEIF4A2
GoPubMedEIF4A2
iHOPEIF4A2
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 3 15:49:37 CEST 2018
Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.