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EIF2B3 (eukaryotic translation initiation factor 2B subunit gamma)

Identity

Alias_nameseukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)
eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
Alias_symbol (synonym)EIF2Bgamma
EIF-2B
Other alias
HGNC (Hugo) EIF2B3
LocusID (NCBI) 8891
Atlas_Id 62775
Location 1p34.1  [Link to chromosome band 1p34]
Location_base_pair Starts at 44874529 and ends at 44986722 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
EIF2B3 (1p34.1) / HYI (1p34.2)SCMH1 (1p34.2) / EIF2B3 (1p34.1)SZT2 (1p34.2) / EIF2B3 (1p34.1)
TMEM53 (1p34.1) / EIF2B3 (1p34.1)TMEM53 EIF2B3SCMH1 EIF2B3
SZT2 EIF2B3

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)EIF2B3   3259
Cards
Entrez_Gene (NCBI)EIF2B3  8891  eukaryotic translation initiation factor 2B subunit gamma
AliasesEIF-2B; EIF2Bgamma
GeneCards (Weizmann)EIF2B3
Ensembl hg19 (Hinxton)ENSG00000070785 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000070785 [Gene_View]  chr1:44874529-44986722 [Contig_View]  EIF2B3 [Vega]
ICGC DataPortalENSG00000070785
TCGA cBioPortalEIF2B3
AceView (NCBI)EIF2B3
Genatlas (Paris)EIF2B3
WikiGenes8891
SOURCE (Princeton)EIF2B3
Genetics Home Reference (NIH)EIF2B3
Genomic and cartography
GoldenPath hg38 (UCSC)EIF2B3  -     chr1:44874529-44986722 -  1p34.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EIF2B3  -     1p34.1   [Description]    (hg19-Feb_2009)
EnsemblEIF2B3 - 1p34.1 [CytoView hg19]  EIF2B3 - 1p34.1 [CytoView hg38]
Mapping of homologs : NCBIEIF2B3 [Mapview hg19]  EIF2B3 [Mapview hg38]
OMIM603896   606273   
Gene and transcription
Genbank (Entrez)AF257077 AK022399 AK024006 AK314668 AL834288
RefSeq transcript (Entrez)NM_001166588 NM_001261418 NM_020365
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EIF2B3
Cluster EST : UnigeneHs.533549 [ NCBI ]
CGAP (NCI)Hs.533549
Alternative Splicing GalleryENSG00000070785
Gene ExpressionEIF2B3 [ NCBI-GEO ]   EIF2B3 [ EBI - ARRAY_EXPRESS ]   EIF2B3 [ SEEK ]   EIF2B3 [ MEM ]
Gene Expression Viewer (FireBrowse)EIF2B3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8891
GTEX Portal (Tissue expression)EIF2B3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NR50   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NR50  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NR50
Splice isoforms : SwissVarQ9NR50
PhosPhoSitePlusQ9NR50
Domains : Interpro (EBI)NTP_transferase_dom    Nucleotide-diphossugar_trans   
Domain families : Pfam (Sanger)NTP_transferase (PF00483)   
Domain families : Pfam (NCBI)pfam00483   
Conserved Domain (NCBI)EIF2B3
DMDM Disease mutations8891
Blocks (Seattle)EIF2B3
SuperfamilyQ9NR50
Human Protein AtlasENSG00000070785
Peptide AtlasQ9NR50
HPRD09379
IPIIPI00006504   IPI00217227   IPI00332950   IPI00513887   IPI00747747   
Protein Interaction databases
DIP (DOE-UCLA)Q9NR50
IntAct (EBI)Q9NR50
FunCoupENSG00000070785
BioGRIDEIF2B3
STRING (EMBL)EIF2B3
ZODIACEIF2B3
Ontologies - Pathways
QuickGOQ9NR50
Ontology : AmiGOtranslation initiation factor activity  guanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  protein binding  cytoplasm  cytosol  eukaryotic translation initiation factor 2B complex  translational initiation  translation factor activity, RNA binding  response to heat  response to heat  response to glucose  oligodendrocyte development  nucleotidyltransferase activity  hippocampus development  negative regulation of translational initiation in response to stress  response to peptide hormone  positive regulation of GTPase activity  cellular response to stimulus  
Ontology : EGO-EBItranslation initiation factor activity  guanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  protein binding  cytoplasm  cytosol  eukaryotic translation initiation factor 2B complex  translational initiation  translation factor activity, RNA binding  response to heat  response to heat  response to glucose  oligodendrocyte development  nucleotidyltransferase activity  hippocampus development  negative regulation of translational initiation in response to stress  response to peptide hormone  positive regulation of GTPase activity  cellular response to stimulus  
Pathways : BIOCARTAVEGF, Hypoxia, and Angiogenesis [Genes]   
Pathways : KEGGRNA transport   
NDEx NetworkEIF2B3
Atlas of Cancer Signalling NetworkEIF2B3
Wikipedia pathwaysEIF2B3
Orthology - Evolution
OrthoDB8891
GeneTree (enSembl)ENSG00000070785
Phylogenetic Trees/Animal Genes : TreeFamEIF2B3
HOVERGENQ9NR50
HOGENOMQ9NR50
Homologs : HomoloGeneEIF2B3
Homology/Alignments : Family Browser (UCSC)EIF2B3
Gene fusions - Rearrangements
Fusion: TCGATMEM53 EIF2B3
Fusion: TCGASCMH1 EIF2B3
Fusion: TCGASZT2 EIF2B3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEIF2B3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EIF2B3
dbVarEIF2B3
ClinVarEIF2B3
1000_GenomesEIF2B3 
Exome Variant ServerEIF2B3
ExAC (Exome Aggregation Consortium)EIF2B3 (select the gene name)
Genetic variants : HAPMAP8891
Genomic Variants (DGV)EIF2B3 [DGVbeta]
DECIPHEREIF2B3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEIF2B3 
Mutations
ICGC Data PortalEIF2B3 
TCGA Data PortalEIF2B3 
Broad Tumor PortalEIF2B3
OASIS PortalEIF2B3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEIF2B3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEIF2B3
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
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch EIF2B3
DgiDB (Drug Gene Interaction Database)EIF2B3
DoCM (Curated mutations)EIF2B3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EIF2B3 (select a term)
intoGenEIF2B3
Cancer3DEIF2B3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603896    606273   
Orphanet17140    17141    17139    14426    14427   
MedgenEIF2B3
Genetic Testing Registry EIF2B3
NextProtQ9NR50 [Medical]
TSGene8891
GENETestsEIF2B3
Target ValidationEIF2B3
Huge Navigator EIF2B3 [HugePedia]
snp3D : Map Gene to Disease8891
BioCentury BCIQEIF2B3
ClinGenEIF2B3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8891
Chemical/Pharm GKB GenePA27690
Clinical trialEIF2B3
Miscellaneous
canSAR (ICR)EIF2B3 (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEIF2B3
EVEXEIF2B3
GoPubMedEIF2B3
iHOPEIF2B3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 16:14:10 CEST 2017

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