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EIF2AK4 Gene

protein-coding   GIFtS: 61
GCID: GC15P040226

Eukaryotic Translation Initiation Factor 2 Alpha Kinase...

  See EIF2AK4-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Eukaryotic Translation Initiation Factor 2 Alpha Kinase 41 2     Eukaryotic Translation Initiation Factor 2-Alpha Kinase 42
GCN22 3 5     GCN2 EIF2alpha Kinase2
GCN2-Like Protein2 3     General Control Nonderepressible 22
PVOD22 5     EC 2.7.11.13
KIAA13383 5     

External Ids:    HGNC: 196871   Entrez Gene: 4402752   Ensembl: ENSG000001288297   OMIM: 6092805   UniProtKB: Q9P2K83   

Export aliases for EIF2AK4 gene to outside databases

Previous GC identifers: GC15P033123 GC15P037805 GC15P037942 GC15P037962 GC15P038033 GC15P038014 GC15P017070


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for EIF2AK4 Gene:
This gene encodes a member of a family of kinases that phosphorylate the alpha subunit of eukaryotic translation
initiation factor-2 (EIF2), resulting in the downregulaton of protein synthesis. The encoded protein responds to
amino acid deprivation by binding uncharged transfer RNAs. It may also be activated by glucose deprivation and
viral infection. Mutations in this gene have been found in individuals suffering from autosomal recessive
pulmonary venoocclusive-disease-2. (provided by RefSeq, Mar 2014)

GeneCards Summary for EIF2AK4 Gene:
EIF2AK4 (eukaryotic translation initiation factor 2 alpha kinase 4) is a protein-coding gene. Diseases associated with EIF2AK4 include pulmonary venoocclusive disease 2, and pulmonary venoocclusive disease. GO annotations related to this gene include protein homodimerization activity and eukaryotic translation initiation factor 2alpha kinase activity. An important paralog of this gene is EIF2AK1.

UniProtKB/Swiss-Prot: E2AK4_HUMAN, Q9P2K8
Function: Can phosphorylate the alpha subunit of EIF2 and may mediate translational control (By similarity)

Gene Wiki entry for EIF2AK4 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EIF2AK4 gene promoter:
         CREB   p53   deltaCREB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEIF2AK4 promoter sequence
   Search Chromatin IP Primers for EIF2AK4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EIF2AK4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q15.1   Ensembl cytogenetic band:  15q15.1   HGNC cytogenetic band: 15q13.3

EIF2AK4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EIF2AK4 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P040226:  view genomic region     (about GC identifiers)

Start:
40,226,347 bp from pter      End:
40,327,797 bp from pter
Size:
101,451 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: E2AK4_HUMAN, Q9P2K8 (See protein sequence)
Recommended Name: Eukaryotic translation initiation factor 2-alpha kinase 4  
Size: 1649 amino acids; 186911 Da
Sequence caution: Sequence=BAA92576.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of
unknown origin in the N-terminal part; Sequence=BAB15625.1; Type=Erroneous initiation; Note=Translation
N-terminally extended;
Secondary accessions: C9JEC4 Q69YL7 Q6DC97 Q96GN6 Q9H5K1 Q9NSQ3 Q9NSZ5 Q9UJ56
Alternative splicing: 3 isoforms:  Q9P2K8-1   Q9P2K8-2   Q9P2K8-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for EIF2AK4: NX_Q9P2K8

Explore proteomics data for EIF2AK4 at MOPED

Post-translational modifications: 

  • Autophosphorylated on threonine residues (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See EIF2AK4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001013725.2  
    ENSEMBL proteins: 
     ENSP00000453148   ENSP00000263791   ENSP00000453968   ENSP00000453575   ENSP00000454210  
     ENSP00000372174  

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    antibodies-online peptides for EIF2AK4

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: eukaryotic translation initiation factor 2 alpha kinase 4
    GCN2 subfamily

    Selected InterPro protein domains (see all 9):
     IPR016135 UBQ-conjugating_enzyme/RWD
     IPR017441 Protein_kinase_ATP_BS
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR024435 HisRS-related_dom

    Graphical View of Domain Structure for InterPro Entry Q9P2K8

    ProtoNet protein and cluster: Q9P2K8

    2 Blocks protein domains:
    IPB000608 Ubiquitin-conjugating enzymes
    IPB006575 RWD


    UniProtKB/Swiss-Prot: E2AK4_HUMAN, Q9P2K8
    Domain: Kinase domain 1 is a degenerate kinase domain
    Domain: RWD domain is reported to interact with GCN1L1
    Similarity: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. GCN2 subfamily
    Similarity: Contains 2 protein kinase domains
    Similarity: Contains 1 RWD domain


    Find genes that share domains with EIF2AK4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: E2AK4_HUMAN, Q9P2K8
    Function: Can phosphorylate the alpha subunit of EIF2 and may mediate translational control (By similarity)
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein

         Enzyme Number (IUBMB): EC 2.7.11.11

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity ISS--
    GO:0004694eukaryotic translation initiation factor 2alpha kinase activity ISS--
    GO:0004713protein tyrosine kinase activity ----
    GO:0005515protein binding ----
         
    Find genes that share ontologies with EIF2AK4           About GenesLikeMe


    Phenotypes:
         5 GenomeRNAi human phenotypes for EIF2AK4:
     Decreased substrate adherent c  Decreased telomerase activity  Increased apoptosis  Increased cell death HMECs cel 
     Increased number of small and  

         11 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Eif2ak4):
     behavior/neurological  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     liver/biliary system  mortality/aging  muscle  nervous system  other 
     reproductive system 

    Find genes that share phenotypes with EIF2AK4           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for EIF2AK4: Eif2ak4tm1Drc Eif2ak4tm1.2Dron

       genOway: Develop your customized and physiologically relevant rodent model for EIF2AK4

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus3
    endoplasmic reticulum2
    vacuole1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0022626cytosolic ribosome ISS--

    Find genes that share ontologies with EIF2AK4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for EIF2AK4 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Influenza A
    Influenza A0.34
    Herpes simplex infection0.33
    Measles0.34
    2Nanog in Mammalian ESC Pluripotency
    GSK3 Signaling0.61
    3Apoptotic Pathways in Synovial Fibroblasts
    eIF2 Pathway0.60
    4Translation Insulin regulation of translation
    Translation Regulation activity of EIF20.47
    5Translational Control
    Translational Control


    Find genes that share SuperPaths with EIF2AK4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for EIF2AK4
        GSK3 Signaling
    eIF2 Pathway

    1 Cell Signaling Technology (CST) Pathway for EIF2AK4
        Translational Control

    1 GeneGo (Thomson Reuters) Pathway for EIF2AK4
        Translation Regulation of EIF2 activity


    Selected Kegg Pathways  (Kegg details for EIF2AK4) (see all 6):
        Protein processing in endoplasmic reticulum
    Hepatitis C
    Measles
    Influenza A
    Herpes simplex infection

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EIF2AK4
    Interactions:

        GeneGlobe Interaction Network for EIF2AK4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for EIF2AK4 (Q9P2K83 ENSP000002637914) via UniProtKB, MINT, STRING, and/or I2D (see all 185)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSNK1EP496743, ENSP000003529294I2D: score=4 STRING: ENSP00000352929
    PRPF6O949063, ENSP000002660794I2D: score=4 STRING: ENSP00000266079
    GCN1L1Q926163, ENSP000003006484I2D: score=2 STRING: ENSP00000300648
    PRPF8Q6P2Q93, ENSP000003043504I2D: score=2 STRING: ENSP00000304350
    ABCF3Q9NUQ83, ENSP000004114714I2D: score=1 STRING: ENSP00000411471
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006446regulation of translational initiation ISS--
    GO:0006468protein phosphorylation ISS--
    GO:0009267cellular response to starvation IEA--
    GO:0017148negative regulation of translation IEA--
    GO:0030968endoplasmic reticulum unfolded protein response IEA--

    Find genes that share ontologies with EIF2AK4           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for EIF2AK4 (E2AK4)

    2 HMDB Compounds for EIF2AK4    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    2 Novoseek inferred chemical compound relationships for EIF2AK4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    trna 48.1 14 7623840 (5), 10983975 (4), 15964839 (2)
    histidine 17.3 3 7623840 (2), 16215176 (1)



    Find genes that share compounds with EIF2AK4           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for EIF2AK4 gene: 
    NM_001013703.3  

    Unigene Cluster for EIF2AK4:

    Eukaryotic translation initiation factor 2 alpha kinase 4
    Hs.656673  [show with all ESTs]
    Unigene Representative Sequence: NM_001013703
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000559624(uc001zkl.3) ENST00000263791(uc001zkm.1) ENST00000560648
    ENST00000560855 ENST00000558629(uc001zkn.1) ENST00000559311 ENST00000558557(uc001zko.1)
    ENST00000558743 ENST00000559032 ENST00000558823 ENST00000382727(uc010bbj.1 uc010bbk.1)

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    Additional mRNA sequence: 

    AB037759.1 AJ243428.1 AK027011.1 AK074361.1 AL137627.1 AL137676.1 AL157497.1 AL832907.1 
    BC009350.2 BC014915.1 BC061591.1 BC078179.1 

    16 DOTS entries:

    DT.414488  DT.100779167  DT.100779169  DT.436676  DT.97839406  DT.121073701  DT.305838  DT.100703012 
    DT.101964269  DT.95373012  DT.100009816  DT.121073761  DT.121073784  DT.97774332  DT.75123529  DT.92053714 

    Selected AceView cDNA sequences (see all 178):

    AA011327 AW069882 BU528422 BU634471 BM463412 AL157497 AA423963 BQ019483 
    AA370461 BQ428507 BM756500 BG108100 CR605057 AA159551 BM449754 AA010941 
    AL137627 BQ951986 BC014915 H65305 BX419551 BX279858 BM765688 BU501036 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for EIF2AK4 (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20a · 20b ^ 21 ^
    SP1:                                                  -                                         -                             -                                 
    SP2:                                                                                                                          -                                 
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28a · 28b ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33 ^ 34
    SP1:                                -                                                               
    SP2:                                -                                                               
    SP3:              -                 -                                                               
    SP4:                                -                       -                       -               
    SP5:                                                                                                


    ECgene alternative splicing isoforms for EIF2AK4

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EIF2AK4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTAATATAT
    EIF2AK4 Expression
    About this image

    EIF2AK4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EIF2AK4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.656673

    UniProtKB/Swiss-Prot: E2AK4_HUMAN, Q9P2K8
    Tissue specificity: Widely expressed

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EIF2AK4

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for EIF2AK4 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Eif2ak41 , 5 eukaryotic translation initiation factor 2 alpha kinase more1, 5 86.82(n)1
    90.51(a)1
      2 (59.40 cM)5
    271031  NM_013719.31  NP_038747.21 
     1183886185 
    chicken
    (Gallus gallus)
    Aves EIF2AK41 eukaryotic translation initiation factor 2 alpha kinase more 71.58(n)
    73.51(a)
      423285  XM_004941720.1  XP_004941777.1 
    lizard
    (Anolis carolinensis)
    Reptilia EIF2AK46
    eukaryotic translation initiation factor 2 alpha k...
    74(a)
    1 ↔ 1
    GL343264.1(1719050-1775713)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia eif2ak41 eukaryotic translation initiation factor 2 alpha kinase more 68.61(n)
    69.27(a)
      100216307  NM_001256926.1  NP_001243855.1 
    zebrafish
    (Danio rerio)
    Actinopterygii eif2ak41 eukaryotic translation initiation factor 2 alpha kinase more 63.01(n)
    62.94(a)
      100149925  XM_002667103.3  XP_002667149.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta Gcn21 Gcn2 45.78(n)
    35.67(a)
      43709  NM_001276212.1  NP_001263141.1 
    worm
    (Caenorhabditis elegans)
    Secernentea gcn-21 gcn-2 44.87(n)
    31.79(a)
      174953  NM_001267441.1  NP_001254370.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GCN2(YDR283C)4
    GCN21
    Protein kinase, phosphorylates the alpha-subunit of more4
    GCN21
    43.75(n)1
    31.83(a)1
      4(1030049-1025070)4
    8518771, 4  NP_010569.31  NP_010569.14 


    ENSEMBL Gene Tree for EIF2AK4 (if available)
    TreeFam Gene Tree for EIF2AK4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EIF2AK4 gene
    EIF2AK12  EIF2AK32  EIF2AK22  
    1 SIMAP similar gene for EIF2AK4 using alignment to 4 protein entries:     E2AK4_HUMAN (see all proteins):
    NUAK1

    Find genes that share paralogs with EIF2AK4           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EIF2AK4 (see all 2262)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0404834
    A lung neuroendocrine carcinoma sample4--see VAR_0404832 H Y mis40--------
    rs763708521,2
    C,F--40224528(+) TAGAGA/TTATAT 1 -- us2k11Minor allele frequency- T:0.03EA 120
    rs1164359621,2
    C,F--40224690(+) TGACAT/GTTTCA 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1444347731,2
    --40224713(+) TAAAAG/TAATTT 1 -- us2k10--------
    rs1824983901,2
    --40224799(+) TACTCG/TGGCTG 1 -- us2k10--------
    rs1883193231,2
    --40224825(+) CTTAAC/TGTGGG 1 -- us2k10--------
    rs1396058861,2
    --40224920(+) CAATGC/GGTTAG 1 -- us2k10--------
    rs353909511,2
    C,F,H--40224988(+) TTCAGA/CATCAC 1 -- us2k125Minor allele frequency- C:0.11NS EA NA 3064
    rs1451195501,2
    --40225030(+) GAGATC/GACTGG 1 -- us2k10--------
    rs1910618181,2
    --40225109(+) TGTGTC/TATCTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for EIF2AK4 (40226347 - 40327797 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for EIF2AK4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1503CNV Insertion18451855
    nsv516913CNV Loss19592680
    nsv832983CNV Gain17160897

    Human Gene Mutation Database (HGMD): EIF2AK4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EIF2AK4
    DNA2.0 Custom Variant and Variant Library Synthesis for EIF2AK4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609280   
    OMIM disorders: 234810  
    3 diseases for EIF2AK4:    
    About MalaCards
    pulmonary venoocclusive disease 2    pulmonary venoocclusive disease    yellow fever


    Find genes that share disorders with EIF2AK4           About GenesLikeMe


    Export disorders for EIF2AK4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for EIF2AK4 gene, integrated from 10 sources (see all 85):
    (articles sorted by number of sources associating them with EIF2AK4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of a mammalian homolog of the GCN2 eukaryotic initiation factor 2alpha kinase. (PubMed id 10504407)1, 2, 3, 9 Berlanga J.J.... de Haro C. (Eur. J. Biochem. 1999)
    2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    6. The role of nitric-oxide synthase in the regulation of UVB light-induced phosphorylation of the alpha subunit of eukaryotic initiation factor 2. (PubMed id 19586904)1, 9 Lu W....Wu S. (J. Biol. Chem. 2009)
    7. Autophagy impairment stimulates PS1 expression and gamma-secretase activity. (PubMed id 20168091)1, 9 Ohta K....Nakagawa T. (Autophagy 2010)
    8. Systems biology approach predicts immunogenicity of the yellow fever vaccine in humans. (PubMed id 19029902)1, 9 Querec T.D....Pulendran B. (Nat. Immunol. 2009)
    9. Vaccine activation of the nutrient sensor GCN2 in dendritic cells enhances antigen presentation. (PubMed id 24310610)1 Ravindran R....Pulendran B. (Science 2014)
    10. EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension. (PubMed id 24292273)1 Eyries M....Soubrier F. (Nat. Genet. 2014)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 440275 HGNC: 19687 AceView: LOC440275 Ensembl:ENSG00000128829 euGenes: HUgn440275
    ECgene: EIF2AK4 Kegg: 440275 H-InvDB: EIF2AK4

    (According to HUGE)
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    HUGE: KIAA1338

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for EIF2AK4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EIF2AK4 gene:
    Search GeneIP for patents involving EIF2AK4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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