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EIF2B5 (eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa)

Identity

Alias_nameseukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)
eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
Alias_symbol (synonym)EIF2Bepsilon
EIF-2B
Other aliasCACH
CLE
LVWM
HGNC (Hugo) EIF2B5
LocusID (NCBI) 8893
Atlas_Id 62776
Location 3q27.1  [Link to chromosome band 3q27]
Location_base_pair Starts at 183852810 and ends at 183863099 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
EIF2B5 (3q27.1) / EIF2B5 (3q27.1)

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)EIF2B5   3261
Cards
Entrez_Gene (NCBI)EIF2B5  8893  eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
AliasesCACH; CLE; EIF-2B; EIF2Bepsilon; 
LVWM
GeneCards (Weizmann)EIF2B5
Ensembl hg19 (Hinxton)ENSG00000145191 [Gene_View]  chr3:183852810-183863099 [Contig_View]  EIF2B5 [Vega]
Ensembl hg38 (Hinxton)ENSG00000145191 [Gene_View]  chr3:183852810-183863099 [Contig_View]  EIF2B5 [Vega]
ICGC DataPortalENSG00000145191
TCGA cBioPortalEIF2B5
AceView (NCBI)EIF2B5
Genatlas (Paris)EIF2B5
WikiGenes8893
SOURCE (Princeton)EIF2B5
Genetics Home Reference (NIH)EIF2B5
Genomic and cartography
GoldenPath hg19 (UCSC)EIF2B5  -     chr3:183852810-183863099 +  3q27.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EIF2B5  -     3q27.1   [Description]    (hg38-Dec_2013)
EnsemblEIF2B5 - 3q27.1 [CytoView hg19]  EIF2B5 - 3q27.1 [CytoView hg38]
Mapping of homologs : NCBIEIF2B5 [Mapview hg19]  EIF2B5 [Mapview hg38]
OMIM603896   603945   
Gene and transcription
Genbank (Entrez)AB208821 AK056400 AK091646 AK307347 AK310207
RefSeq transcript (Entrez)NM_003907
RefSeq genomic (Entrez)NC_000003 NC_018914 NG_015826 NT_005612 NW_004929311
Consensus coding sequences : CCDS (NCBI)EIF2B5
Cluster EST : UnigeneHs.283551 [ NCBI ]
CGAP (NCI)Hs.283551
Alternative Splicing GalleryENSG00000145191
Gene ExpressionEIF2B5 [ NCBI-GEO ]   EIF2B5 [ EBI - ARRAY_EXPRESS ]   EIF2B5 [ SEEK ]   EIF2B5 [ MEM ]
Gene Expression Viewer (FireBrowse)EIF2B5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8893
GTEX Portal (Tissue expression)EIF2B5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13144   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13144  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13144
Splice isoforms : SwissVarQ13144
PhosPhoSitePlusQ13144
Domaine pattern : Prosite (Expaxy)W2 (PS51363)   
Domains : Interpro (EBI)ARM-type_fold    Hexapep_transf    MIF4-like_typ_1/2/3    Nucleotide-diphossugar_trans    Trimer_LpxA-like    W2_domain   
Domain families : Pfam (Sanger)Hexapep (PF00132)    W2 (PF02020)   
Domain families : Pfam (NCBI)pfam00132    pfam02020   
Domain families : Smart (EMBL)eIF5C (SM00515)  
Conserved Domain (NCBI)EIF2B5
DMDM Disease mutations8893
Blocks (Seattle)EIF2B5
PDB (SRS)3-Jun   
PDB (PDBSum)3-Jun   
PDB (IMB)3-Jun   
PDB (RSDB)3-Jun   
Structural Biology KnowledgeBase3-Jun   
SCOP (Structural Classification of Proteins)3-Jun   
CATH (Classification of proteins structures)3-Jun   
SuperfamilyQ13144
Human Protein AtlasENSG00000145191
Peptide AtlasQ13144
HPRD04898
IPIIPI00011898   IPI00925483   IPI00925244   IPI00925085   
Protein Interaction databases
DIP (DOE-UCLA)Q13144
IntAct (EBI)Q13144
FunCoupENSG00000145191
BioGRIDEIF2B5
STRING (EMBL)EIF2B5
ZODIACEIF2B5
Ontologies - Pathways
QuickGOQ13144
Ontology : AmiGOovarian follicle development  translation initiation factor activity  translation initiation factor activity  guanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  protein binding  nucleus  nucleus  cytoplasm  cytosol  eukaryotic translation initiation factor 2B complex  translation  translational initiation  translational initiation  response to heat  response to heat  response to heat  response to glucose  gene expression  astrocyte development  oligodendrocyte development  translation initiation factor binding  negative regulation of translational initiation in response to stress  response to endoplasmic reticulum stress  cellular response to drug  myelination  response to peptide hormone  positive regulation of GTPase activity  positive regulation of GTPase activity  positive regulation of GTPase activity  positive regulation of GTPase activity  cellular protein metabolic process  positive regulation of translational initiation  astrocyte differentiation  
Ontology : EGO-EBIovarian follicle development  translation initiation factor activity  translation initiation factor activity  guanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  protein binding  nucleus  nucleus  cytoplasm  cytosol  eukaryotic translation initiation factor 2B complex  translation  translational initiation  translational initiation  response to heat  response to heat  response to heat  response to glucose  gene expression  astrocyte development  oligodendrocyte development  translation initiation factor binding  negative regulation of translational initiation in response to stress  response to endoplasmic reticulum stress  cellular response to drug  myelination  response to peptide hormone  positive regulation of GTPase activity  positive regulation of GTPase activity  positive regulation of GTPase activity  positive regulation of GTPase activity  cellular protein metabolic process  positive regulation of translational initiation  astrocyte differentiation  
Pathways : BIOCARTAVEGF, Hypoxia, and Angiogenesis [Genes]    Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway [Genes]    Regulation of eIF2 [Genes]   
Pathways : KEGGRNA transport   
NDEx NetworkEIF2B5
Atlas of Cancer Signalling NetworkEIF2B5
Wikipedia pathwaysEIF2B5
Orthology - Evolution
OrthoDB8893
GeneTree (enSembl)ENSG00000145191
Phylogenetic Trees/Animal Genes : TreeFamEIF2B5
HOVERGENQ13144
HOGENOMQ13144
Homologs : HomoloGeneEIF2B5
Homology/Alignments : Family Browser (UCSC)EIF2B5
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEIF2B5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EIF2B5
dbVarEIF2B5
ClinVarEIF2B5
1000_GenomesEIF2B5 
Exome Variant ServerEIF2B5
ExAC (Exome Aggregation Consortium)EIF2B5 (select the gene name)
Genetic variants : HAPMAP8893
Genomic Variants (DGV)EIF2B5 [DGVbeta]
DECIPHER (Syndromes)3:183852810-183863099  ENSG00000145191
CONAN: Copy Number AnalysisEIF2B5 
Mutations
ICGC Data PortalEIF2B5 
TCGA Data PortalEIF2B5 
Broad Tumor PortalEIF2B5
OASIS PortalEIF2B5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEIF2B5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEIF2B5
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 EIF2B5
DgiDB (Drug Gene Interaction Database)EIF2B5
DoCM (Curated mutations)EIF2B5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EIF2B5 (select a term)
intoGenEIF2B5
Cancer3DEIF2B5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603896    603945   
Orphanet17140    17141    17139    14426    14427   
MedgenEIF2B5
Genetic Testing Registry EIF2B5
NextProtQ13144 [Medical]
TSGene8893
GENETestsEIF2B5
Huge Navigator EIF2B5 [HugePedia]
snp3D : Map Gene to Disease8893
BioCentury BCIQEIF2B5
ClinGenEIF2B5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8893
Chemical/Pharm GKB GenePA27692
Clinical trialEIF2B5
Miscellaneous
canSAR (ICR)EIF2B5 (select the gene name)
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEIF2B5
EVEXEIF2B5
GoPubMedEIF2B5
iHOPEIF2B5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:02:41 CET 2017

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