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EIF2S2 (eukaryotic translation initiation factor 2 subunit beta)

Identity

Alias_namesregulatory subunit 67
EIF2
Alias_symbol (synonym)EIF2beta
PPP1R67
Other aliasEIF2B
eIF-2-beta
HGNC (Hugo) EIF2S2
LocusID (NCBI) 8894
Atlas_Id 53658
Location 20q11.22  [Link to chromosome band 20q11]
Location_base_pair Starts at 34088298 and ends at 34112356 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
APLP2 (11q24.3) / EIF2S2 (20q11.22)EIF2S2 (20q11.22) / DEFB123 (20q11.21)EIF2S2 (20q11.22) / TP53I11 (11p11.2)
EIF2S2 20q11.22 / DEFB123 20q11.21

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)EIF2S2   3266
Cards
Entrez_Gene (NCBI)EIF2S2  8894  eukaryotic translation initiation factor 2 subunit beta
AliasesEIF2; EIF2B; EIF2beta; PPP1R67; 
eIF-2-beta
GeneCards (Weizmann)EIF2S2
Ensembl hg19 (Hinxton)ENSG00000125977 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000125977 [Gene_View]  chr20:34088298-34112356 [Contig_View]  EIF2S2 [Vega]
ICGC DataPortalENSG00000125977
TCGA cBioPortalEIF2S2
AceView (NCBI)EIF2S2
Genatlas (Paris)EIF2S2
WikiGenes8894
SOURCE (Princeton)EIF2S2
Genetics Home Reference (NIH)EIF2S2
Genomic and cartography
GoldenPath hg38 (UCSC)EIF2S2  -     chr20:34088298-34112356 -  20q11.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EIF2S2  -     20q11.22   [Description]    (hg19-Feb_2009)
EnsemblEIF2S2 - 20q11.22 [CytoView hg19]  EIF2S2 - 20q11.22 [CytoView hg38]
Mapping of homologs : NCBIEIF2S2 [Mapview hg19]  EIF2S2 [Mapview hg38]
OMIM603908   
Gene and transcription
Genbank (Entrez)AB208966 AB451237 AB451362 AK313025 BC000461
RefSeq transcript (Entrez)NM_001316363 NM_001316364 NM_003908
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EIF2S2
Cluster EST : UnigeneHs.429180 [ NCBI ]
CGAP (NCI)Hs.429180
Alternative Splicing GalleryENSG00000125977
Gene ExpressionEIF2S2 [ NCBI-GEO ]   EIF2S2 [ EBI - ARRAY_EXPRESS ]   EIF2S2 [ SEEK ]   EIF2S2 [ MEM ]
Gene Expression Viewer (FireBrowse)EIF2S2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8894
GTEX Portal (Tissue expression)EIF2S2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP20042   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP20042  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP20042
Splice isoforms : SwissVarP20042
PhosPhoSitePlusP20042
Domains : Interpro (EBI)Transl_init_fac_IF2/IF5    Transl_init_fac_IF2/IF5_N    Transl_init_fac_IF2/IF5_Zn-bd   
Domain families : Pfam (Sanger)eIF-5_eIF-2B (PF01873)   
Domain families : Pfam (NCBI)pfam01873   
Domain families : Smart (EMBL)eIF2B_5 (SM00653)  
Conserved Domain (NCBI)EIF2S2
DMDM Disease mutations8894
Blocks (Seattle)EIF2S2
SuperfamilyP20042
Human Protein AtlasENSG00000125977
Peptide AtlasP20042
HPRD04882
IPIIPI00021728   IPI00816442   
Protein Interaction databases
DIP (DOE-UCLA)P20042
IntAct (EBI)P20042
FunCoupENSG00000125977
BioGRIDEIF2S2
STRING (EMBL)EIF2S2
ZODIACEIF2S2
Ontologies - Pathways
QuickGOP20042
Ontology : AmiGOin utero embryonic development  male germ cell proliferation  RNA binding  translation initiation factor activity  protein binding  nucleus  cytoplasm  cytosol  eukaryotic translation initiation factor 2 complex  translational initiation  translation factor activity, RNA binding  male gonad development  metal ion binding  transmembrane transport  
Ontology : EGO-EBIin utero embryonic development  male germ cell proliferation  RNA binding  translation initiation factor activity  protein binding  nucleus  cytoplasm  cytosol  eukaryotic translation initiation factor 2 complex  translational initiation  translation factor activity, RNA binding  male gonad development  metal ion binding  transmembrane transport  
Pathways : BIOCARTADouble Stranded RNA Induced Gene Expression [Genes]    VEGF, Hypoxia, and Angiogenesis [Genes]    Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway [Genes]    Regulation of eIF2 [Genes]    Eukaryotic protein translation [Genes]   
Pathways : KEGGRNA transport   
NDEx NetworkEIF2S2
Atlas of Cancer Signalling NetworkEIF2S2
Wikipedia pathwaysEIF2S2
Orthology - Evolution
OrthoDB8894
GeneTree (enSembl)ENSG00000125977
Phylogenetic Trees/Animal Genes : TreeFamEIF2S2
HOVERGENP20042
HOGENOMP20042
Homologs : HomoloGeneEIF2S2
Homology/Alignments : Family Browser (UCSC)EIF2S2
Gene fusions - Rearrangements
Fusion : MitelmanEIF2S2/DEFB123 [20q11.22/20q11.21]  
Fusion: TCGAEIF2S2 20q11.22 DEFB123 20q11.21 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEIF2S2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EIF2S2
dbVarEIF2S2
ClinVarEIF2S2
1000_GenomesEIF2S2 
Exome Variant ServerEIF2S2
ExAC (Exome Aggregation Consortium)EIF2S2 (select the gene name)
Genetic variants : HAPMAP8894
Genomic Variants (DGV)EIF2S2 [DGVbeta]
DECIPHEREIF2S2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEIF2S2 
Mutations
ICGC Data PortalEIF2S2 
TCGA Data PortalEIF2S2 
Broad Tumor PortalEIF2S2
OASIS PortalEIF2S2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEIF2S2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEIF2S2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EIF2S2
DgiDB (Drug Gene Interaction Database)EIF2S2
DoCM (Curated mutations)EIF2S2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EIF2S2 (select a term)
intoGenEIF2S2
Cancer3DEIF2S2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603908   
Orphanet
MedgenEIF2S2
Genetic Testing Registry EIF2S2
NextProtP20042 [Medical]
TSGene8894
GENETestsEIF2S2
Target ValidationEIF2S2
Huge Navigator EIF2S2 [HugePedia]
snp3D : Map Gene to Disease8894
BioCentury BCIQEIF2S2
ClinGenEIF2S2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8894
Chemical/Pharm GKB GenePA27696
Clinical trialEIF2S2
Miscellaneous
canSAR (ICR)EIF2S2 (select the gene name)
Probes
Litterature
PubMed60 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEIF2S2
EVEXEIF2S2
GoPubMedEIF2S2
iHOPEIF2S2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:32:19 CEST 2017

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