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EIF2AK4 (eukaryotic translation initiation factor 2 alpha kinase 4)

Identity

Alias_symbol (synonym)GCN2
KIAA1338
Other aliasPVOD2
HGNC (Hugo) EIF2AK4
LocusID (NCBI) 440275
Atlas_Id 43241
Location 15q15.1  [Link to chromosome band 15q15]
Location_base_pair Starts at 39934124 and ends at 40035596 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BUB1B (15q15.1) / EIF2AK4 (15q15.1)EIF2AK4 (15q15.1) / ANKRD34C (15q25.1)EIF2AK4 (15q15.1) / AVEN (15q14)
EIF2AK4 (15q15.1) / EIF2AK4 (15q15.1)LRCH3 (3q29) / EIF2AK4 (15q15.1)BUB1B 15q15.1 / EIF2AK4 15q15.1
EIF2AK4 15q15.1 / ANKRD34C 15q25.1EIF2AK4 15q15.1 / AVEN 15q14

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)EIF2AK4   19687
Cards
Entrez_Gene (NCBI)EIF2AK4  440275  eukaryotic translation initiation factor 2 alpha kinase 4
AliasesGCN2; PVOD2
GeneCards (Weizmann)EIF2AK4
Ensembl hg19 (Hinxton)ENSG00000128829 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000128829 [Gene_View]  chr15:39934124-40035596 [Contig_View]  EIF2AK4 [Vega]
ICGC DataPortalENSG00000128829
TCGA cBioPortalEIF2AK4
AceView (NCBI)EIF2AK4
Genatlas (Paris)EIF2AK4
WikiGenes440275
SOURCE (Princeton)EIF2AK4
Genetics Home Reference (NIH)EIF2AK4
Genomic and cartography
GoldenPath hg38 (UCSC)EIF2AK4  -     chr15:39934124-40035596 +  15q15.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EIF2AK4  -     15q15.1   [Description]    (hg19-Feb_2009)
EnsemblEIF2AK4 - 15q15.1 [CytoView hg19]  EIF2AK4 - 15q15.1 [CytoView hg38]
Mapping of homologs : NCBIEIF2AK4 [Mapview hg19]  EIF2AK4 [Mapview hg38]
OMIM234810   609280   
Gene and transcription
Genbank (Entrez)AB037759 AJ243428 AK027011 AK074361 AL137627
RefSeq transcript (Entrez)NM_001013703
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EIF2AK4
Cluster EST : UnigeneHs.656673 [ NCBI ]
CGAP (NCI)Hs.656673
Alternative Splicing GalleryENSG00000128829
Gene ExpressionEIF2AK4 [ NCBI-GEO ]   EIF2AK4 [ EBI - ARRAY_EXPRESS ]   EIF2AK4 [ SEEK ]   EIF2AK4 [ MEM ]
Gene Expression Viewer (FireBrowse)EIF2AK4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)440275
GTEX Portal (Tissue expression)EIF2AK4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P2K8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P2K8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P2K8
Splice isoforms : SwissVarQ9P2K8
PhosPhoSitePlusQ9P2K8
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)    RWD (PS50908)   
Domains : Interpro (EBI)Anticodon-bd    HisRS-related_dom    Kinase-like_dom    Prot_kinase_dom    Protein_kinase_ATP_BS    RWD-domain    Ser/Thr_kinase_AS    UBQ-conjugating_enzyme/RWD   
Domain families : Pfam (Sanger)HGTP_anticodon2 (PF12745)    Pkinase (PF00069)    RWD (PF05773)   
Domain families : Pfam (NCBI)pfam12745    pfam00069    pfam05773   
Domain families : Smart (EMBL)RWD (SM00591)  S_TKc (SM00220)  
Conserved Domain (NCBI)EIF2AK4
DMDM Disease mutations440275
Blocks (Seattle)EIF2AK4
SuperfamilyQ9P2K8
Human Protein AtlasENSG00000128829
Peptide AtlasQ9P2K8
HPRD18447
IPIIPI00163851   IPI00456685   IPI00966834   
Protein Interaction databases
DIP (DOE-UCLA)Q9P2K8
IntAct (EBI)Q9P2K8
FunCoupENSG00000128829
BioGRIDEIF2AK4
STRING (EMBL)EIF2AK4
ZODIACEIF2AK4
Ontologies - Pathways
QuickGOQ9P2K8
Ontology : AmiGOtRNA binding  positive regulation of defense response to virus by host  adaptive immune response  T cell activation involved in immune response  positive regulation of adaptive immune response  protein serine/threonine kinase activity  eukaryotic translation initiation factor 2alpha kinase activity  eukaryotic translation initiation factor 2alpha kinase activity  ATP binding  polysome  regulation of translational initiation  protein phosphorylation  cell cycle arrest  learning  long-term memory  regulation of translational initiation by eIF2 alpha phosphorylation  regulation of translational initiation by eIF2 alpha phosphorylation  viral translation  cytosolic ribosome  negative regulation of translational initiation in response to stress  negative regulation of CREB transcription factor activity  cellular response to amino acid starvation  cellular response to amino acid starvation  cellular response to UV  eiF2alpha phosphorylation in response to endoplasmic reticulum stress  induction by virus of host autophagy  negative regulation by host of viral genome replication  negative regulation of neuron differentiation  negative regulation of translational initiation  protein autophosphorylation  defense response to virus  regulation of feeding behavior  regulation of eIF2 alpha phosphorylation by amino acid starvation  regulation of eIF2 alpha phosphorylation by amino acid starvation  cellular response to cold  positive regulation of translational initiation in response to starvation  positive regulation of long-term synaptic potentiation  neuron projection extension  cellular response to leucine starvation  
Ontology : EGO-EBItRNA binding  positive regulation of defense response to virus by host  adaptive immune response  T cell activation involved in immune response  positive regulation of adaptive immune response  protein serine/threonine kinase activity  eukaryotic translation initiation factor 2alpha kinase activity  eukaryotic translation initiation factor 2alpha kinase activity  ATP binding  polysome  regulation of translational initiation  protein phosphorylation  cell cycle arrest  learning  long-term memory  regulation of translational initiation by eIF2 alpha phosphorylation  regulation of translational initiation by eIF2 alpha phosphorylation  viral translation  cytosolic ribosome  negative regulation of translational initiation in response to stress  negative regulation of CREB transcription factor activity  cellular response to amino acid starvation  cellular response to amino acid starvation  cellular response to UV  eiF2alpha phosphorylation in response to endoplasmic reticulum stress  induction by virus of host autophagy  negative regulation by host of viral genome replication  negative regulation of neuron differentiation  negative regulation of translational initiation  protein autophosphorylation  defense response to virus  regulation of feeding behavior  regulation of eIF2 alpha phosphorylation by amino acid starvation  regulation of eIF2 alpha phosphorylation by amino acid starvation  cellular response to cold  positive regulation of translational initiation in response to starvation  positive regulation of long-term synaptic potentiation  neuron projection extension  cellular response to leucine starvation  
Pathways : BIOCARTARegulation of eIF2 [Genes]   
Pathways : KEGGProtein processing in endoplasmic reticulum    Hepatitis C    Measles    Influenza A    Herpes simplex infection    Epstein-Barr virus infection   
NDEx NetworkEIF2AK4
Atlas of Cancer Signalling NetworkEIF2AK4
Wikipedia pathwaysEIF2AK4
Orthology - Evolution
OrthoDB440275
GeneTree (enSembl)ENSG00000128829
Phylogenetic Trees/Animal Genes : TreeFamEIF2AK4
HOVERGENQ9P2K8
HOGENOMQ9P2K8
Homologs : HomoloGeneEIF2AK4
Homology/Alignments : Family Browser (UCSC)EIF2AK4
Gene fusions - Rearrangements
Fusion : MitelmanBUB1B/EIF2AK4 [15q15.1/15q15.1]  [t(15;15)(q15;q15)]  
Fusion : MitelmanEIF2AK4/ANKRD34C [15q15.1/15q25.1]  [t(15;15)(q15;q25)]  
Fusion : MitelmanEIF2AK4/AVEN [15q15.1/15q14]  [t(15;15)(q14;q15)]  
Fusion: TCGABUB1B 15q15.1 EIF2AK4 15q15.1 BRCA
Fusion: TCGAEIF2AK4 15q15.1 ANKRD34C 15q25.1 HNSC
Fusion: TCGAEIF2AK4 15q15.1 AVEN 15q14 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEIF2AK4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EIF2AK4
dbVarEIF2AK4
ClinVarEIF2AK4
1000_GenomesEIF2AK4 
Exome Variant ServerEIF2AK4
ExAC (Exome Aggregation Consortium)EIF2AK4 (select the gene name)
Genetic variants : HAPMAP440275
Genomic Variants (DGV)EIF2AK4 [DGVbeta]
DECIPHEREIF2AK4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEIF2AK4 
Mutations
ICGC Data PortalEIF2AK4 
TCGA Data PortalEIF2AK4 
Broad Tumor PortalEIF2AK4
OASIS PortalEIF2AK4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEIF2AK4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEIF2AK4
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
BioMutasearch EIF2AK4
DgiDB (Drug Gene Interaction Database)EIF2AK4
DoCM (Curated mutations)EIF2AK4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EIF2AK4 (select a term)
intoGenEIF2AK4
Cancer3DEIF2AK4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM234810    609280   
Orphanet18379    20328    9801   
MedgenEIF2AK4
Genetic Testing Registry EIF2AK4
NextProtQ9P2K8 [Medical]
TSGene440275
GENETestsEIF2AK4
Target ValidationEIF2AK4
Huge Navigator EIF2AK4 [HugePedia]
snp3D : Map Gene to Disease440275
BioCentury BCIQEIF2AK4
ClinGenEIF2AK4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD440275
Chemical/Pharm GKB GenePA134947616
Clinical trialEIF2AK4
Miscellaneous
canSAR (ICR)EIF2AK4 (select the gene name)
Probes
Litterature
PubMed60 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEIF2AK4
EVEXEIF2AK4
GoPubMedEIF2AK4
iHOPEIF2AK4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 25 19:06:40 CEST 2017

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