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EIF2AK3 (eukaryotic translation initiation factor 2 alpha kinase 3)

Identity

Alias_symbol (synonym)PEK
PERK
Other aliasWRS
HGNC (Hugo) EIF2AK3
LocusID (NCBI) 9451
Atlas_Id 40424
Location 2p11.2  [Link to chromosome band 2p11]
Location_base_pair Starts at 88556740 and ends at 88624929 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
EIF2AK3 (2p11.2) / EIF2AK3 (2p11.2)EIF2AK3 (2p11.2) / PRKD3 (2p22.2)EIF2AK3 (2p11.2) / UGT2B4 (4q13.2)

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)EIF2AK3   3255
LRG (Locus Reference Genomic)LRG_1024
Cards
Entrez_Gene (NCBI)EIF2AK3  9451  eukaryotic translation initiation factor 2 alpha kinase 3
AliasesPEK; PERK; WRS
GeneCards (Weizmann)EIF2AK3
Ensembl hg19 (Hinxton)ENSG00000172071 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000172071 [Gene_View]  chr2:88556740-88624929 [Contig_View]  EIF2AK3 [Vega]
ICGC DataPortalENSG00000172071
TCGA cBioPortalEIF2AK3
AceView (NCBI)EIF2AK3
Genatlas (Paris)EIF2AK3
WikiGenes9451
SOURCE (Princeton)EIF2AK3
Genetics Home Reference (NIH)EIF2AK3
Genomic and cartography
GoldenPath hg38 (UCSC)EIF2AK3  -     chr2:88556740-88624929 -  2p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EIF2AK3  -     2p11.2   [Description]    (hg19-Feb_2009)
EnsemblEIF2AK3 - 2p11.2 [CytoView hg19]  EIF2AK3 - 2p11.2 [CytoView hg38]
Mapping of homologs : NCBIEIF2AK3 [Mapview hg19]  EIF2AK3 [Mapview hg38]
OMIM226980   604032   
Gene and transcription
Genbank (Entrez)AF110146 AF193339 AI650734 AK128659 AK308312
RefSeq transcript (Entrez)NM_001313915 NM_004836
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EIF2AK3
Cluster EST : UnigeneHs.591589 [ NCBI ]
CGAP (NCI)Hs.591589
Alternative Splicing GalleryENSG00000172071
Gene ExpressionEIF2AK3 [ NCBI-GEO ]   EIF2AK3 [ EBI - ARRAY_EXPRESS ]   EIF2AK3 [ SEEK ]   EIF2AK3 [ MEM ]
Gene Expression Viewer (FireBrowse)EIF2AK3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9451
GTEX Portal (Tissue expression)EIF2AK3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NZJ5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NZJ5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NZJ5
Splice isoforms : SwissVarQ9NZJ5
Catalytic activity : Enzyme2.7.11.1 [ Enzyme-Expasy ]   2.7.11.12.7.11.1 [ IntEnz-EBI ]   2.7.11.1 [ BRENDA ]   2.7.11.1 [ KEGG ]   
PhosPhoSitePlusQ9NZJ5
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)Kinase-like_dom    Prot_kinase_dom    Protein_kinase_ATP_BS    Quinoprotein_ADH-like_fam    Quinoprotein_ADH-like_supfam    Ser/Thr_kinase_AS   
Domain families : Pfam (Sanger)Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam00069   
Domain families : Smart (EMBL)S_TKc (SM00220)  
Conserved Domain (NCBI)EIF2AK3
DMDM Disease mutations9451
Blocks (Seattle)EIF2AK3
PDB (SRS)4G31    4G34    4M7I    4X7H    4X7J    4X7K    4X7L    4X7N    4X7O    4YZS   
PDB (PDBSum)4G31    4G34    4M7I    4X7H    4X7J    4X7K    4X7L    4X7N    4X7O    4YZS   
PDB (IMB)4G31    4G34    4M7I    4X7H    4X7J    4X7K    4X7L    4X7N    4X7O    4YZS   
PDB (RSDB)4G31    4G34    4M7I    4X7H    4X7J    4X7K    4X7L    4X7N    4X7O    4YZS   
Structural Biology KnowledgeBase4G31    4G34    4M7I    4X7H    4X7J    4X7K    4X7L    4X7N    4X7O    4YZS   
SCOP (Structural Classification of Proteins)4G31    4G34    4M7I    4X7H    4X7J    4X7K    4X7L    4X7N    4X7O    4YZS   
CATH (Classification of proteins structures)4G31    4G34    4M7I    4X7H    4X7J    4X7K    4X7L    4X7N    4X7O    4YZS   
SuperfamilyQ9NZJ5
Human Protein AtlasENSG00000172071
Peptide AtlasQ9NZJ5
HPRD04942
IPIIPI00303053   IPI00927902   IPI00927221   
Protein Interaction databases
DIP (DOE-UCLA)Q9NZJ5
IntAct (EBI)Q9NZJ5
FunCoupENSG00000172071
BioGRIDEIF2AK3
STRING (EMBL)EIF2AK3
ZODIACEIF2AK3
Ontologies - Pathways
QuickGOQ9NZJ5
Ontology : AmiGOskeletal system development  ossification  angiogenesis  chondrocyte development  protein kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  eukaryotic translation initiation factor 2alpha kinase activity  eukaryotic translation initiation factor 2alpha kinase activity  protein binding  ATP binding  cytoplasm  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  endoplasmic reticulum membrane  protein phosphorylation  activation of cysteine-type endopeptidase activity involved in apoptotic process  ER overload response  endoplasmic reticulum organization  positive regulation of vascular endothelial growth factor production  positive regulation of gene expression  regulation of translational initiation by eIF2 alpha phosphorylation  membrane  negative regulation of translation  peptidyl-serine phosphorylation  calcium-mediated signaling  enzyme binding  protein phosphatase binding  insulin secretion  integral component of endoplasmic reticulum membrane  bone mineralization  endoplasmic reticulum unfolded protein response  endoplasmic reticulum unfolded protein response  endocrine pancreas development  negative regulation of myelination  negative regulation of translational initiation in response to stress  cellular response to amino acid starvation  response to endoplasmic reticulum stress  eiF2alpha phosphorylation in response to endoplasmic reticulum stress  eiF2alpha phosphorylation in response to endoplasmic reticulum stress  PERK-mediated unfolded protein response  cellular response to glucose starvation  identical protein binding  protein homodimerization activity  positive regulation of transcription from RNA polymerase I promoter  protein autophosphorylation  protein autophosphorylation  insulin-like growth factor receptor signaling pathway  perinuclear region of cytoplasm  protein homooligomerization  Hsp90 protein binding  regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation  cellular response to cold  positive regulation of protein localization to nucleus  regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  response to manganese-induced endoplasmic reticulum stress  
Ontology : EGO-EBIskeletal system development  ossification  angiogenesis  chondrocyte development  protein kinase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  eukaryotic translation initiation factor 2alpha kinase activity  eukaryotic translation initiation factor 2alpha kinase activity  protein binding  ATP binding  cytoplasm  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  endoplasmic reticulum membrane  protein phosphorylation  activation of cysteine-type endopeptidase activity involved in apoptotic process  ER overload response  endoplasmic reticulum organization  positive regulation of vascular endothelial growth factor production  positive regulation of gene expression  regulation of translational initiation by eIF2 alpha phosphorylation  membrane  negative regulation of translation  peptidyl-serine phosphorylation  calcium-mediated signaling  enzyme binding  protein phosphatase binding  insulin secretion  integral component of endoplasmic reticulum membrane  bone mineralization  endoplasmic reticulum unfolded protein response  endoplasmic reticulum unfolded protein response  endocrine pancreas development  negative regulation of myelination  negative regulation of translational initiation in response to stress  cellular response to amino acid starvation  response to endoplasmic reticulum stress  eiF2alpha phosphorylation in response to endoplasmic reticulum stress  eiF2alpha phosphorylation in response to endoplasmic reticulum stress  PERK-mediated unfolded protein response  cellular response to glucose starvation  identical protein binding  protein homodimerization activity  positive regulation of transcription from RNA polymerase I promoter  protein autophosphorylation  protein autophosphorylation  insulin-like growth factor receptor signaling pathway  perinuclear region of cytoplasm  protein homooligomerization  Hsp90 protein binding  regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation  cellular response to cold  positive regulation of protein localization to nucleus  regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  response to manganese-induced endoplasmic reticulum stress  
Pathways : BIOCARTARegulation of eIF2 [Genes]   
Pathways : KEGG   
NDEx NetworkEIF2AK3
Atlas of Cancer Signalling NetworkEIF2AK3
Wikipedia pathwaysEIF2AK3
Orthology - Evolution
OrthoDB9451
GeneTree (enSembl)ENSG00000172071
Phylogenetic Trees/Animal Genes : TreeFamEIF2AK3
HOVERGENQ9NZJ5
HOGENOMQ9NZJ5
Homologs : HomoloGeneEIF2AK3
Homology/Alignments : Family Browser (UCSC)EIF2AK3
Gene fusions - Rearrangements
Fusion : MitelmanEIF2AK3/PRKD3 [2p11.2/2p22.2]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEIF2AK3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EIF2AK3
dbVarEIF2AK3
ClinVarEIF2AK3
1000_GenomesEIF2AK3 
Exome Variant ServerEIF2AK3
ExAC (Exome Aggregation Consortium)EIF2AK3 (select the gene name)
Genetic variants : HAPMAP9451
Genomic Variants (DGV)EIF2AK3 [DGVbeta]
DECIPHEREIF2AK3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEIF2AK3 
Mutations
ICGC Data PortalEIF2AK3 
TCGA Data PortalEIF2AK3 
Broad Tumor PortalEIF2AK3
OASIS PortalEIF2AK3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEIF2AK3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEIF2AK3
intOGen PortalEIF2AK3
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
LOVD (Leiden Open Variation Database)EURO-WABB PROJECT OPEN VARIATION DATABASE
BioMutasearch EIF2AK3
DgiDB (Drug Gene Interaction Database)EIF2AK3
DoCM (Curated mutations)EIF2AK3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EIF2AK3 (select a term)
intoGenEIF2AK3
Cancer3DEIF2AK3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM226980    604032   
Orphanet1754   
MedgenEIF2AK3
Genetic Testing Registry EIF2AK3
NextProtQ9NZJ5 [Medical]
TSGene9451
GENETestsEIF2AK3
Target ValidationEIF2AK3
Huge Navigator EIF2AK3 [HugePedia]
snp3D : Map Gene to Disease9451
BioCentury BCIQEIF2AK3
ClinGenEIF2AK3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9451
Chemical/Pharm GKB GenePA27687
Clinical trialEIF2AK3
Miscellaneous
canSAR (ICR)EIF2AK3 (select the gene name)
Probes
Litterature
PubMed139 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEIF2AK3
EVEXEIF2AK3
GoPubMedEIF2AK3
iHOPEIF2AK3
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 12:32:18 CEST 2017

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