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Aliases for EIF2AK4 Gene

Aliases for EIF2AK4 Gene

  • Eukaryotic Translation Initiation Factor 2 Alpha Kinase 4 2 3 5
  • GCN2-Like Protein 3 4
  • GCN2 3 4
  • Eukaryotic Translation Initiation Factor 2-Alpha Kinase 4 4
  • General Control Nonderepressible 2 3
  • EIF-2-Alpha Kinase GCN2 3
  • GCN2 EIF2alpha Kinase 3
  • EC 2.7.11.1 4
  • KIAA1338 4
  • PVOD2 3

External Ids for EIF2AK4 Gene

Previous GeneCards Identifiers for EIF2AK4 Gene

  • GC15P033123
  • GC15P037805
  • GC15P037942
  • GC15P037962
  • GC15P038033
  • GC15P038014
  • GC15P040226
  • GC15P017070

Summaries for EIF2AK4 Gene

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, Autosomal Recessive and Pulmonary Venoocclusive Disease 1, Autosomal Dominant. Among its related pathways are Regulation of lipid metabolism Insulin signaling-generic cascades and Protein processing in endoplasmic reticulum. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is EIF2AK3.

UniProtKB/Swiss-Prot for EIF2AK4 Gene

  • Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (eIF-2-alpha/EIF2S1) on Ser-52 in response to low amino acid availability (PubMed:25329545). Plays a role as an activator of the integrated stress response (ISR) required for adapatation to amino acid starvation. Converts phosphorylated eIF-2-alpha/EIF2S1 either to a competitive inhibitor of the translation initiation factor eIF-2B, leading to a global protein synthesis repression, and thus to a reduced overall utilization of amino acids, or to a translational initiation activation of specific mRNAs, such as the transcriptional activator ATF4, and hence allowing ATF4-mediated reprogramming of amino acid biosynthetic gene expression to alleviate nutrient depletion. Binds uncharged tRNAs (By similarity). Involved in cell cycle arrest by promoting cyclin D1 mRNA translation repression after the unfolded protein response pathway (UPR) activation or cell cycle inhibitor CDKN1A/p21 mRNA translation activation in response to amino acid deprivation (PubMed:26102367). Plays a role in the consolidation of synaptic plasticity, learning as well as formation of long-term memory. Plays a role in neurite outgrowth inhibition. Plays a proapoptotic role in response to glucose deprivation. Promotes global cellular protein synthesis repression in response to UV irradiation independently of the stress-activated protein kinase/c-Jun N-terminal kinase (SAPK/JNK) and p38 MAPK signaling pathways (By similarity). Plays a role in the antiviral response against alphavirus infection; impairs early viral mRNA translation of the incoming genomic virus RNA, thus preventing alphavirus replication (By similarity).

  • (Microbial infection) Plays a role in modulating the adaptive immune response to yellow fever virus infection; promotes dendritic cells to initiate autophagy and antigene presentation to both CD4(+) and CD8(+) T-cells under amino acid starvation (PubMed:24310610).

Gene Wiki entry for EIF2AK4 Gene

Additional gene information for EIF2AK4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EIF2AK4 Gene

Genomics for EIF2AK4 Gene

GeneHancer (GH) Regulatory Elements for EIF2AK4 Gene

Promoters and enhancers for EIF2AK4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I039932 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 561.9 +0.4 431 3.8 HDGF ARNT ARID4B SIN3A DMAP1 YY1 POLR2B ZNF207 ZNF143 FOS EIF2AK4 FSIP1 C15orf62 GC15M039951 GC15P039911
GH15I040090 Promoter/Enhancer 3.3 VISTA EPDnew FANTOM5 Ensembl ENCODE dbSUPER 28.3 +166.2 166234 18.8 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 BMF ENSG00000259211 DNAJC17 RAD51-AS1 BAHD1 CHST14 EIF2AK4 SRP14-AS1 ENSG00000259536 PLCB2
GH15I040037 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 22.7 +105.2 105237 3.2 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 SRP14-AS1 SRP14 EIF2AK4 ENSG00000259536 BAHD1 GC15M040064
GH15I039918 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10 -14.3 -14295 3.6 ATF1 SMAD1 ARNT ARID4B SIN3A ZNF2 ZNF48 YY1 ZNF766 GLIS2 GPR176 GC15P039923 PIR39167 LOC100505534 EIF2AK4 SRP14-AS1 GC15P039911
GH15I040693 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.3 +761.0 760963 3.1 PKNOX1 SMAD1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 SLC30A9 RAD51 RAD51-AS1 CCDC32 ENSG00000259211 INO80 DNAJC17 KNSTRN CHST14 BMF EIF2AK4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EIF2AK4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EIF2AK4 gene promoter:

Genomic Locations for EIF2AK4 Gene

Genomic Locations for EIF2AK4 Gene
chr15:39,934,124-40,035,596
(GRCh38/hg38)
Size:
101,473 bases
Orientation:
Plus strand
chr15:40,226,347-40,327,797
(GRCh37/hg19)

Genomic View for EIF2AK4 Gene

Genes around EIF2AK4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EIF2AK4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EIF2AK4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EIF2AK4 Gene

Proteins for EIF2AK4 Gene

  • Protein details for EIF2AK4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2K8-E2AK4_HUMAN
    Recommended name:
    eIF-2-alpha kinase GCN2
    Protein Accession:
    Q9P2K8
    Secondary Accessions:
    • C9JEC4
    • Q69YL7
    • Q6DC97
    • Q96GN6
    • Q9H5K1
    • Q9NSQ3
    • Q9NSZ5
    • Q9UJ56

    Protein attributes for EIF2AK4 Gene

    Size:
    1649 amino acids
    Molecular mass:
    186911 Da
    Quaternary structure:
    • Homodimer; homodimerization is important for kinase activation by uncharged tRNAs. Interacts with GCN1; this interaction stimulates EIF2AK4/GCN2 kinase activity and is impaired by IMPACT upon a variety of stress conditions, such as amino acid depletion, UV-C irradiation, proteasome inhibitor treatment and glucose deprivation. Interacts with DNAJC3; this interaction inhibits EIF2AK4/GCN2 kinase activity during endoplasmic reticulum (ER), hypothermic and amino acid-starving stress conditions.
    SequenceCaution:
    • Sequence=BAA92576.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305}; Sequence=BAB15625.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for EIF2AK4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EIF2AK4 Gene

Post-translational modifications for EIF2AK4 Gene

  • Autophosphorylated; autophosphorylation on Thr-899 is increased upon amino acid starvation and in UV irradiation cells and inhibited in presence of IMPACT.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EIF2AK4 Gene

Domains & Families for EIF2AK4 Gene

Gene Families for EIF2AK4 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for EIF2AK4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9P2K8

UniProtKB/Swiss-Prot:

E2AK4_HUMAN :
  • The histidyl-tRNA synthetase-like region and protein kinase domains are necessary for eIF-2-alpha kinase activity and eIF-2-alpha-mediated translational control. The histidyl-tRNA synthetase-like domain is necessary for binding to uncharged tRNAs. Kinase domain 1 is a degenerate kinase domain.
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. GCN2 subfamily.
Domain:
  • The histidyl-tRNA synthetase-like region and protein kinase domains are necessary for eIF-2-alpha kinase activity and eIF-2-alpha-mediated translational control. The histidyl-tRNA synthetase-like domain is necessary for binding to uncharged tRNAs. Kinase domain 1 is a degenerate kinase domain.
Family:
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. GCN2 subfamily.
genes like me logo Genes that share domains with EIF2AK4: view

Function for EIF2AK4 Gene

Molecular function for EIF2AK4 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot Function:
Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (eIF-2-alpha/EIF2S1) on Ser-52 in response to low amino acid availability (PubMed:25329545). Plays a role as an activator of the integrated stress response (ISR) required for adapatation to amino acid starvation. Converts phosphorylated eIF-2-alpha/EIF2S1 either to a competitive inhibitor of the translation initiation factor eIF-2B, leading to a global protein synthesis repression, and thus to a reduced overall utilization of amino acids, or to a translational initiation activation of specific mRNAs, such as the transcriptional activator ATF4, and hence allowing ATF4-mediated reprogramming of amino acid biosynthetic gene expression to alleviate nutrient depletion. Binds uncharged tRNAs (By similarity). Involved in cell cycle arrest by promoting cyclin D1 mRNA translation repression after the unfolded protein response pathway (UPR) activation or cell cycle inhibitor CDKN1A/p21 mRNA translation activation in response to amino acid deprivation (PubMed:26102367). Plays a role in the consolidation of synaptic plasticity, learning as well as formation of long-term memory. Plays a role in neurite outgrowth inhibition. Plays a proapoptotic role in response to glucose deprivation. Promotes global cellular protein synthesis repression in response to UV irradiation independently of the stress-activated protein kinase/c-Jun N-terminal kinase (SAPK/JNK) and p38 MAPK signaling pathways (By similarity). Plays a role in the antiviral response against alphavirus infection; impairs early viral mRNA translation of the incoming genomic virus RNA, thus preventing alphavirus replication (By similarity).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Plays a role in modulating the adaptive immune response to yellow fever virus infection; promotes dendritic cells to initiate autophagy and antigene presentation to both CD4(+) and CD8(+) T-cells under amino acid starvation (PubMed:24310610).

Enzyme Numbers (IUBMB) for EIF2AK4 Gene

Phenotypes From GWAS Catalog for EIF2AK4 Gene

Gene Ontology (GO) - Molecular Function for EIF2AK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding ISS --
GO:0000166 nucleotide binding IEA --
GO:0003723 RNA binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity ISS --
genes like me logo Genes that share ontologies with EIF2AK4: view
genes like me logo Genes that share phenotypes with EIF2AK4: view

Human Phenotype Ontology for EIF2AK4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EIF2AK4 Gene

MGI Knock Outs for EIF2AK4:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for EIF2AK4 Gene

Localization for EIF2AK4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EIF2AK4 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EIF2AK4 gene
Compartment Confidence
cytosol 5
nucleus 3
endoplasmic reticulum 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EIF2AK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005844 polysome ISS --
GO:0022626 cytosolic ribosome ISS --
genes like me logo Genes that share ontologies with EIF2AK4: view

Pathways & Interactions for EIF2AK4 Gene

genes like me logo Genes that share pathways with EIF2AK4: view

Pathways by source for EIF2AK4 Gene

1 GeneGo (Thomson Reuters) pathway for EIF2AK4 Gene
2 Qiagen pathways for EIF2AK4 Gene
1 Cell Signaling Technology pathway for EIF2AK4 Gene

SIGNOR curated interactions for EIF2AK4 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for EIF2AK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint IEA --
GO:0002230 positive regulation of defense response to virus by host ISS --
GO:0002250 adaptive immune response IEA --
GO:0002286 T cell activation involved in immune response ISS --
GO:0002376 immune system process IEA --
genes like me logo Genes that share ontologies with EIF2AK4: view

Drugs & Compounds for EIF2AK4 Gene

(7) Drugs for EIF2AK4 Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Haloperidol Approved Pharma Antagonist Antipsychotic drug 155
Olanzapine Approved, Investigational Pharma Antagonist 408
Quetiapine Approved Pharma Antagonist 0
Risperidone Approved, Investigational Pharma Antagonist SR-2A inhibitor 498
Ziprasidone Approved Pharma Antagonist 5-HT (serotonin)/dopamine receptor antagonist 146

(2) Additional Compounds for EIF2AK4 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with EIF2AK4: view

Transcripts for EIF2AK4 Gene

Unigene Clusters for EIF2AK4 Gene

Eukaryotic translation initiation factor 2 alpha kinase 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EIF2AK4 Gene

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:
SP6:
SP7:

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28a · 28b ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33 ^ 34
SP1: -
SP2: -
SP3: - -
SP4: - - -
SP5:
SP6:
SP7: - -

Relevant External Links for EIF2AK4 Gene

GeneLoc Exon Structure for
EIF2AK4
ECgene alternative splicing isoforms for
EIF2AK4

Expression for EIF2AK4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EIF2AK4 Gene

Protein differential expression in normal tissues from HIPED for EIF2AK4 Gene

This gene is overexpressed in NK cells (44.2) and Breast (11.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EIF2AK4 Gene



Protein tissue co-expression partners for EIF2AK4 Gene

NURSA nuclear receptor signaling pathways regulating expression of EIF2AK4 Gene:

EIF2AK4

SOURCE GeneReport for Unigene cluster for EIF2AK4 Gene:

Hs.656673

mRNA Expression by UniProt/SwissProt for EIF2AK4 Gene:

Q9P2K8-E2AK4_HUMAN
Tissue specificity: Widely expressed (PubMed:10504407). Expressed in lung, smooth muscle cells and macrophages (PubMed:24292273).

Evidence on tissue expression from TISSUES for EIF2AK4 Gene

  • Nervous system(4.5)
  • Muscle(4.2)
  • Liver(2.1)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EIF2AK4 Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
Regions:
Head and neck:
  • ear
  • epiglottis
  • larynx
  • neck
Thorax:
  • heart
  • lung
General:
  • blood
  • blood vessel
genes like me logo Genes that share expression patterns with EIF2AK4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for EIF2AK4 Gene

Orthologs for EIF2AK4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for EIF2AK4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EIF2AK4 33 34
  • 99.72 (n)
cow
(Bos Taurus)
Mammalia EIF2AK4 33 34
  • 91.55 (n)
dog
(Canis familiaris)
Mammalia EIF2AK4 33 34
  • 90.06 (n)
mouse
(Mus musculus)
Mammalia Eif2ak4 33 16 34
  • 86.82 (n)
rat
(Rattus norvegicus)
Mammalia Eif2ak4 33
  • 86.56 (n)
oppossum
(Monodelphis domestica)
Mammalia EIF2AK4 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EIF2AK4 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves EIF2AK4 33 34
  • 71.58 (n)
lizard
(Anolis carolinensis)
Reptilia EIF2AK4 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eif2ak4 33
  • 68.61 (n)
zebrafish
(Danio rerio)
Actinopterygii eif2ak4 33 34
  • 63.01 (n)
fruit fly
(Drosophila melanogaster)
Insecta Gcn2 34 33
  • 45.78 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012368 33
  • 24.31 (n)
worm
(Caenorhabditis elegans)
Secernentea gcn-2 33
  • 44.87 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL083W 33
  • 45.53 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C10802g 33
  • 44.06 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCN2 33 34 36
  • 43.75 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01187 33
  • 44.52 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gcn2 33
  • 43.18 (n)
Species where no ortholog for EIF2AK4 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EIF2AK4 Gene

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

Paralogs for EIF2AK4 Gene

Paralogs for EIF2AK4 Gene

(1) SIMAP similar genes for EIF2AK4 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with EIF2AK4: view

Variants for EIF2AK4 Gene

Sequence variations from dbSNP and Humsavar for EIF2AK4 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1085307439 pathogenic, Familial pulmonary capillary hemangiomatosis 39,943,477(+) TGTG/TG coding_sequence_variant, frameshift
rs1085307441 pathogenic, Familial pulmonary capillary hemangiomatosis 39,978,148(+) G/A splice_donor_variant
rs1085307442 pathogenic, Familial pulmonary capillary hemangiomatosis 40,001,224(+) G/A coding_sequence_variant, synonymous_variant
rs1085307443 pathogenic, Familial pulmonary capillary hemangiomatosis 40,003,201(+) C/T coding_sequence_variant, stop_gained
rs1085307444 pathogenic, Familial pulmonary capillary hemangiomatosis 40,020,930(+) T/TT coding_sequence_variant, frameshift

Structural Variations from Database of Genomic Variants (DGV) for EIF2AK4 Gene

Variant ID Type Subtype PubMed ID
esv3581639 CNV loss 25503493
nsv1503 CNV insertion 18451855
nsv516913 CNV loss 19592680
nsv832983 CNV gain 17160897
nsv974559 CNV duplication 23825009
nsv974560 CNV duplication 23825009

Variation tolerance for EIF2AK4 Gene

Residual Variation Intolerance Score: 39% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.09; 90.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EIF2AK4 Gene

Human Gene Mutation Database (HGMD)
EIF2AK4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EIF2AK4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EIF2AK4 Gene

Disorders for EIF2AK4 Gene

MalaCards: The human disease database

(7) MalaCards diseases for EIF2AK4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pulmonary venoocclusive disease 2, autosomal recessive
  • pvod2
pulmonary venoocclusive disease 1, autosomal dominant
  • pvod1
heritable pulmonary arterial hypertension
  • familial pulmonary arterial hypertension
pulmonary venoocclusive disease
  • pulmonary veno-occlusive disease
yellow fever
  • jungle yellow fever
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

E2AK4_HUMAN
  • Pulmonary venoocclusive disease 2, autosomal recessive (PVOD2) [MIM:234810]: A disease characterized by widespread fibrous obstruction and intimal thickening of septal veins and preseptal venules, a low diffusing capacity for carbon monoxide, occult alveolar hemorrhage, and nodular ground-glass opacities, septal lines and lymph node enlargement showed by high-resolution computed tomography of the chest. It is frequently associated with pulmonary capillary dilatation and proliferation, and is a rare and devastating cause of pulmonary hypertension. {ECO:0000269 PubMed:24135949, ECO:0000269 PubMed:24292273}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for EIF2AK4

genes like me logo Genes that share disorders with EIF2AK4: view

No data available for Genatlas for EIF2AK4 Gene

Publications for EIF2AK4 Gene

  1. Characterization of a mammalian homolog of the GCN2 eukaryotic initiation factor 2alpha kinase. (PMID: 10504407) Berlanga JJ … De Haro C (European journal of biochemistry 1999) 2 3 4 22 58
  2. p58IPK is an inhibitor of the eIF2α kinase GCN2 and its localization and expression underpin protein synthesis and ER processing capacity. (PMID: 25329545) Roobol A … Smales CM (The Biochemical journal 2015) 3 4 58
  3. Translational Upregulation of an Individual p21Cip1 Transcript Variant by GCN2 Regulates Cell Proliferation and Survival under Nutrient Stress. (PMID: 26102367) Lehman SL … Koumenis C (PLoS genetics 2015) 3 4 58
  4. EIF2AK4 mutations in pulmonary capillary hemangiomatosis. (PMID: 24135949) Best DH … Elliott CG (Chest 2014) 3 4 58
  5. EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension. (PMID: 24292273) Eyries M … Soubrier F (Nature genetics 2014) 3 4 58

Products for EIF2AK4 Gene

Sources for EIF2AK4 Gene

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