Atlas of Genetics and Cytogenetics in Oncology and Haematology


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EIF2AK3 (eukaryotic translation initiation factor 2 alpha kinase 3)

Identity

Alias (NCBI)PEK
PERK
WRS
HGNC (Hugo) EIF2AK3
HGNC Alias symbPEK
PERK
LocusID (NCBI) 9451
Atlas_Id 40424
Location 2p11.2  [Link to chromosome band 2p11]
Location_base_pair Starts at 88556741 and ends at 88627464 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    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]  ENSG00000172071 [Sequence]  chr2:88556741-88627464 [Contig_View]  EIF2AK3 [Vega]
ICGC DataPortalENSG00000172071
TCGA cBioPortalEIF2AK3
AceView (NCBI)EIF2AK3
Genatlas (Paris)EIF2AK3
SOURCE (Princeton)EIF2AK3
Genetics Home Reference (NIH)EIF2AK3
Genomic and cartography
GoldenPath hg38 (UCSC)EIF2AK3  -     chr2:88556741-88627464 -  2p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EIF2AK3  -     2p11.2   [Description]    (hg19-Feb_2009)
GoldenPathEIF2AK3 - 2p11.2 [CytoView hg19]  EIF2AK3 - 2p11.2 [CytoView hg38]
ImmunoBaseENSG00000172071
Genome Data Viewer NCBIEIF2AK3 [Mapview hg19]  
OMIM226980   604032   
Gene and transcription
Genbank (Entrez)AF110146 AF193339 AI650734 AK128659 AK308312
RefSeq transcript (Entrez)NM_001313915 NM_004836
Consensus coding sequences : CCDS (NCBI)EIF2AK3
Gene ExpressionEIF2AK3 [ NCBI-GEO ]   EIF2AK3 [ EBI - ARRAY_EXPRESS ]   EIF2AK3 [ SEEK ]   EIF2AK3 [ MEM ]
Gene Expression Viewer (FireBrowse)EIF2AK3 [ Firebrowse - Broad ]
GenevisibleExpression of EIF2AK3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9451
GTEX Portal (Tissue expression)EIF2AK3
Human Protein AtlasENSG00000172071-EIF2AK3 [pathology]   [cell]   [tissue]
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
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 ]   [ MEROPS ]
PhosPhoSitePlusQ9NZJ5
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)Kinase-like_dom_sf    Prot_kinase_dom    Protein_kinase_ATP_BS    Quinoprotein_ADH-like_supfam    Ser/Thr_kinase_AS    WD40/YVTN_repeat-like_dom_sf   
Domain families : Pfam (Sanger)Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam00069   
Domain families : Smart (EMBL)S_TKc (SM00220)  
Conserved Domain (NCBI)EIF2AK3
PDB (RSDB)4G31    4G34    4M7I    4X7H    4X7J    4X7K    4X7L    4X7N    4X7O    4YZS    5SV7   
PDB Europe4G31    4G34    4M7I    4X7H    4X7J    4X7K    4X7L    4X7N    4X7O    4YZS    5SV7   
PDB (PDBSum)4G31    4G34    4M7I    4X7H    4X7J    4X7K    4X7L    4X7N    4X7O    4YZS    5SV7   
PDB (IMB)4G31    4G34    4M7I    4X7H    4X7J    4X7K    4X7L    4X7N    4X7O    4YZS    5SV7   
Structural Biology KnowledgeBase4G31    4G34    4M7I    4X7H    4X7J    4X7K    4X7L    4X7N    4X7O    4YZS    5SV7   
SCOP (Structural Classification of Proteins)4G31    4G34    4M7I    4X7H    4X7J    4X7K    4X7L    4X7N    4X7O    4YZS    5SV7   
CATH (Classification of proteins structures)4G31    4G34    4M7I    4X7H    4X7J    4X7K    4X7L    4X7N    4X7O    4YZS    5SV7   
SuperfamilyQ9NZJ5
AlphaFold pdb e-kbQ9NZJ5   
Human Protein Atlas [tissue]ENSG00000172071-EIF2AK3 [tissue]
HPRD04942
Protein Interaction databases
DIP (DOE-UCLA)Q9NZJ5
IntAct (EBI)Q9NZJ5
BioGRIDEIF2AK3
STRING (EMBL)EIF2AK3
ZODIACEIF2AK3
Ontologies - Pathways
QuickGOQ9NZJ5
Ontology : AmiGOskeletal system development  ossification  angiogenesis  chondrocyte development  protein kinase activity  protein serine/threonine kinase activity  eukaryotic translation initiation factor 2alpha kinase activity  eukaryotic translation initiation factor 2alpha kinase activity  eukaryotic translation initiation factor 2alpha kinase activity  protein serine/threonine/tyrosine kinase activity  protein binding  ATP binding  cytoplasm  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  endoplasmic reticulum membrane  cytosol  cytosol  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  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 translation in response to stress  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  positive regulation of transcription by RNA polymerase I  protein autophosphorylation  protein autophosphorylation  insulin-like growth factor receptor signaling pathway  perinuclear region of cytoplasm  Hsp90 protein binding  regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation  cellular response to cold  protein serine kinase activity  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  eukaryotic translation initiation factor 2alpha kinase activity  eukaryotic translation initiation factor 2alpha kinase activity  eukaryotic translation initiation factor 2alpha kinase activity  protein serine/threonine/tyrosine kinase activity  protein binding  ATP binding  cytoplasm  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  endoplasmic reticulum membrane  cytosol  cytosol  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  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 translation in response to stress  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  positive regulation of transcription by RNA polymerase I  protein autophosphorylation  protein autophosphorylation  insulin-like growth factor receptor signaling pathway  perinuclear region of cytoplasm  Hsp90 protein binding  regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation  cellular response to cold  protein serine kinase activity  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 : BIOCARTABIOCARTA_EIF2PATHWAY   
Pathways : KEGGKEGG_ALZHEIMERS_DISEASE   
NDEx NetworkEIF2AK3
Atlas of Cancer Signalling NetworkEIF2AK3
Wikipedia pathwaysEIF2AK3
Orthology - Evolution
OrthoDB9451
GeneTree (enSembl)ENSG00000172071
Phylogenetic Trees/Animal Genes : TreeFamEIF2AK3
Homologs : HomoloGeneEIF2AK3
Homology/Alignments : Family Browser (UCSC)EIF2AK3
Gene fusions - Rearrangements
Fusion : MitelmanEIF2AK3::PRKD3 [2p11.2/2p22.2]  
Fusion : QuiverEIF2AK3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEIF2AK3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EIF2AK3
dbVarEIF2AK3
ClinVarEIF2AK3
MonarchEIF2AK3
1000_GenomesEIF2AK3 
Exome Variant ServerEIF2AK3
GNOMAD BrowserENSG00000172071
Varsome BrowserEIF2AK3
ACMGEIF2AK3 variants
VarityQ9NZJ5
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]  
Somatic Mutations in Cancer : COSMIC3DEIF2AK3
Mutations and Diseases : HGMDEIF2AK3
intOGen PortalEIF2AK3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaEIF2AK3
DgiDB (Drug Gene Interaction Database)EIF2AK3
DoCM (Curated mutations)EIF2AK3
CIViC (Clinical Interpretations of Variants in Cancer)EIF2AK3
Cancer3DEIF2AK3
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM226980    604032   
Orphanet1754   
DisGeNETEIF2AK3
MedgenEIF2AK3
Genetic Testing Registry EIF2AK3
NextProtQ9NZJ5 [Medical]
GENETestsEIF2AK3
Target ValidationEIF2AK3
Huge Navigator EIF2AK3 [HugePedia]
ClinGenEIF2AK3
Clinical trials, drugs, therapy
MyCancerGenomeEIF2AK3
Protein Interactions : CTDEIF2AK3
Pharm GKB GenePA27687
PharosQ9NZJ5
Clinical trialEIF2AK3
Miscellaneous
canSAR (ICR)EIF2AK3
HarmonizomeEIF2AK3
ARCHS4EIF2AK3
DataMed IndexEIF2AK3
Probes
Litterature
PubMed234 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXEIF2AK3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 12:31:48 CET 2022

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