The translation initiation factor EIF2 catalyzes the first regulated step of protein synthesis initiation, promoting the binding of the initiator tRNA to 40S ribosomal subunits. Binding occurs as a ternary complex of methionyl-tRNA, EIF2, and GTP. EIF2 is composed of 3 nonidentical subunits, the 36-kD EIF2-alpha subunit (EIF2S1), the 38-kD EIF2-beta subunit (EIF2S2; MIM 603908)... See more...

Aliases for EIF2S1 Gene

Aliases for EIF2S1 Gene

  • Eukaryotic Translation Initiation Factor 2 Subunit Alpha 2 3 4 5
  • EIF-2alpha 2 3 4
  • EIF2A 2 3 4
  • Eukaryotic Translation Initiation Factor 2, Subunit 1 Alpha, 35kDa 2 3
  • Eukaryotic Translation Initiation Factor 2 Subunit 1 3 4
  • EIF-2-Alpha 3 4
  • EIF-2A 3 4
  • Eukaryotic Translation Initiation Factor 2, Subunit 1 (Alpha, 35kD ) 2
  • EIF2S1 5
  • EIF-2 3
  • EIF2 3

External Ids for EIF2S1 Gene

Previous HGNC Symbols for EIF2S1 Gene

  • EIF2

Previous GeneCards Identifiers for EIF2S1 Gene

  • GC14P065332
  • GC14P061620
  • GC14P065817
  • GC14P066896
  • GC14P067826
  • GC14P047996

Summaries for EIF2S1 Gene

Entrez Gene Summary for EIF2S1 Gene

  • The translation initiation factor EIF2 catalyzes the first regulated step of protein synthesis initiation, promoting the binding of the initiator tRNA to 40S ribosomal subunits. Binding occurs as a ternary complex of methionyl-tRNA, EIF2, and GTP. EIF2 is composed of 3 nonidentical subunits, the 36-kD EIF2-alpha subunit (EIF2S1), the 38-kD EIF2-beta subunit (EIF2S2; MIM 603908), and the 52-kD EIF2-gamma subunit (EIF2S3; MIM 300161). The rate of formation of the ternary complex is modulated by the phosphorylation state of EIF2-alpha (Ernst et al., 1987 [PubMed 2948954]).[supplied by OMIM, Feb 2010]

GeneCards Summary for EIF2S1 Gene

EIF2S1 (Eukaryotic Translation Initiation Factor 2 Subunit Alpha) is a Protein Coding gene. Diseases associated with EIF2S1 include Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus and Vaccinia. Among its related pathways are Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding.

UniProtKB/Swiss-Prot Summary for EIF2S1 Gene

  • Functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA (PubMed:16289705). This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form a 43S pre-initiation complex (PubMed:16289705). Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF-2 and release of an eIF-2-GDP binary complex (PubMed:16289705). In order for eIF-2 to recycle and catalyze another round of initiation, the GDP bound to eIF-2 must exchange with GTP by way of a reaction catalyzed by eIF-2B (PubMed:16289705). EIF2S1/eIF-2-alpha is a key component of the integrated stress response (ISR), required for adaptation to various stress: phosphorylation by metabolic-stress sensing protein kinases (EIF2AK1/HRI, EIF2AK2/PKR, EIF2AK3/PERK and EIF2AK4/GCN2) in response to stress converts EIF2S1/eIF-2-alpha in a global protein synthesis inhibitor, leading to a attenuation of cap-dependent translation, while concomitantly initiating the preferential translation of ISR-specific mRNAs, such as the transcriptional activator ATF4, and hence allowing ATF4-mediated reprogramming (PubMed:19131336).

Tocris Summary for EIF2S1 Gene

  • Protein Ser/Thr phosphatases are a group of enzymes that catalyze the removal of phosphate groups from serine and/or threonine residues by hydrolysis of phosphoric acid monoesters. They oppose the action of kinases and phosphorylases and are involved in signal transduction.

Gene Wiki entry for EIF2S1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EIF2S1 Gene

Genomics for EIF2S1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EIF2S1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EIF2S1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EIF2S1

Top Transcription factor binding sites by QIAGEN in the EIF2S1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • C/EBPalpha
  • IRF-1
  • p53
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT1
  • STAT1beta

Genomic Locations for EIF2S1 Gene

Genomic Locations for EIF2S1 Gene
chr14:67,360,151-67,386,516
(GRCh38/hg38)
Size:
26,366 bases
Orientation:
Plus strand
chr14:67,826,714-67,853,233
(GRCh37/hg19)
Size:
26,520 bases
Orientation:
Plus strand

Genomic View for EIF2S1 Gene

Genes around EIF2S1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EIF2S1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EIF2S1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EIF2S1 Gene

Proteins for EIF2S1 Gene

  • Protein details for EIF2S1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05198-IF2A_HUMAN
    Recommended name:
    Eukaryotic translation initiation factor 2 subunit 1
    Protein Accession:
    P05198

    Protein attributes for EIF2S1 Gene

    Size:
    315 amino acids
    Molecular mass:
    36112 Da
    Quaternary structure:
    • Heterotrimer composed of an alpha, a beta and a gamma chain (PubMed:23063529). Component of an EIF2 complex at least composed of CELF1/CUGBP1, CALR, CALR3, EIF2S1, EIF2S2, HSP90B1 and HSPA5. Interaction with METAP2 protects EIF2S1 from inhibitory phosphorylation (By similarity). Interacts with ABCF1 isoform 2 (PubMed:17894550). Associates with ribosomes (PubMed:17894550). Interacts with DDX3X in an RNA-independent manner (PubMed:18596238).

    Three dimensional structures from OCA and Proteopedia for EIF2S1 Gene

neXtProt entry for EIF2S1 Gene

Post-translational modifications for EIF2S1 Gene

  • Phosphorylation at Ser-49 and Ser-52 stabilizes the eIF-2/GDP/eIF-2B complex and prevents GDP/GTP exchange reaction, thus impairing the recycling of eIF-2 between successive rounds of initiation and leading to global inhibition of translation, while concomitantly initiating the preferential translation of integrated stress response (ISR)-specific mRNAs (PubMed:15207627, PubMed:18032499, PubMed:19131336). Substrate for at least 4 kinases: EIF2AK1/HRI, EIF2AK2/PKR, EIF2AK3/PERK and EIF2AK4/GCN2 (By similarity). Phosphorylated; phosphorylation on Ser-52 by the EIF2AK4/GCN2 protein kinase occurs in response to amino acid starvation and UV irradiation (By similarity).
  • (Microbial infection) Phosphorylation by vaccinia virus protein E3 and rotavirus A stabilizes the eIF-2/GDP/eIF-2B complex and prevents GDP/GTP exchange reaction, thus impairing the recycling of eIF-2 between successive rounds of initiation and leading to global inhibition of translation.
  • Ubiquitination at Lys101, Lys106, Lys123, Lys141, Lys143, Lys190, Lys209, Lys226, and Lys259
  • Modification sites at PhosphoSitePlus

Other Protein References for EIF2S1 Gene

Antibody Products

  • Abcam antibodies for EIF2S1

No data available for DME Specific Peptides for EIF2S1 Gene

Domains & Families for EIF2S1 Gene

Gene Families for EIF2S1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for EIF2S1 Gene

InterPro:
Blocks:
  • RNA binding S1
  • Eukaryotic translation initiation factor 2, alpha subunit
ProtoNet:

Suggested Antigen Peptide Sequences for EIF2S1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51242, moderately similar to Eukaryotic translation initiation factor 2 subunit 1 (B4DM12_HUMAN)
  • Eukaryotic translation initiation factor 2 subunit alpha (IF2A_HUMAN)
  • cDNA, FLJ92791, Homo sapiens eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa (EIF2S1), mRNA (Q53XC0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P05198

UniProtKB/Swiss-Prot:

IF2A_HUMAN :
  • Belongs to the eIF-2-alpha family.
Family:
  • Belongs to the eIF-2-alpha family.
genes like me logo Genes that share domains with EIF2S1: view

Function for EIF2S1 Gene

Molecular function for EIF2S1 Gene

UniProtKB/Swiss-Prot Function:
Functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA (PubMed:16289705). This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form a 43S pre-initiation complex (PubMed:16289705). Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF-2 and release of an eIF-2-GDP binary complex (PubMed:16289705). In order for eIF-2 to recycle and catalyze another round of initiation, the GDP bound to eIF-2 must exchange with GTP by way of a reaction catalyzed by eIF-2B (PubMed:16289705). EIF2S1/eIF-2-alpha is a key component of the integrated stress response (ISR), required for adaptation to various stress: phosphorylation by metabolic-stress sensing protein kinases (EIF2AK1/HRI, EIF2AK2/PKR, EIF2AK3/PERK and EIF2AK4/GCN2) in response to stress converts EIF2S1/eIF-2-alpha in a global protein synthesis inhibitor, leading to a attenuation of cap-dependent translation, while concomitantly initiating the preferential translation of ISR-specific mRNAs, such as the transcriptional activator ATF4, and hence allowing ATF4-mediated reprogramming (PubMed:19131336).
UniProtKB/Swiss-Prot EnzymeRegulation:
Activity is regulated by phosphorylation at Ser-49 and Ser-52, which stabilizes the eIF-2/GDP/eIF-2B complex and prevents the eIF-2B-mediated exchange of GDP for GTP, thereby preventing the formation of the 43S pre-initiation complex (PIC) (PubMed:15207627, PubMed:18032499). This results in the global attenuation of 5' cap-dependent protein synthesis and concomitant translation of ISR-specific mRNAs that contain a short upstream open reading frame (uORF) in their 5' UTR, such as ATF4, ATF5, DDIT3/CHOP and PPP1R15A/GADD34 (PubMed:19131336).

Gene Ontology (GO) - Molecular Function for EIF2S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,IBA 21873635
GO:0003743 translation initiation factor activity IEA,IDA 16289705
GO:0005515 protein binding IPI 9431994
GO:0043022 ribosome binding IBA,IDA 17894550
genes like me logo Genes that share ontologies with EIF2S1: view
genes like me logo Genes that share phenotypes with EIF2S1: view

Animal Model Products

CRISPR Products

miRNA for EIF2S1 Gene

miRTarBase miRNAs that target EIF2S1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EIF2S1

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EIF2S1 Gene

Localization for EIF2S1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EIF2S1 Gene

Cytoplasm, Stress granule. Note=Colocalizes with NANOS3 in the stress granules. {ECO:0000250 UniProtKB:Q6ZWX6}.

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 EIF2S1 gene
Compartment Confidence
cytosol 5
extracellular 4
nucleus 4
mitochondrion 3
endoplasmic reticulum 3
plasma membrane 2
cytoskeleton 2
peroxisome 2
endosome 2
lysosome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EIF2S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol TAS --
GO:0005844 polysome TAS 2948954
GO:0005850 eukaryotic translation initiation factor 2 complex IDA 23063529
genes like me logo Genes that share ontologies with EIF2S1: view

Pathways & Interactions for EIF2S1 Gene

genes like me logo Genes that share pathways with EIF2S1: view

Pathways by source for EIF2S1 Gene

4 Qiagen pathways for EIF2S1 Gene
  • Activation of NF-KappaB by PKR
  • eIF2 Pathway
  • GSK3 Signaling
  • PKR Pathway
1 Cell Signaling Technology pathway for EIF2S1 Gene
1 GeneTex pathway for EIF2S1 Gene

SIGNOR curated interactions for EIF2S1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for EIF2S1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006413 translational initiation IEA,TAS --
GO:0006417 regulation of translation IEA --
GO:0007568 aging IEA --
GO:0032057 negative regulation of translational initiation in response to stress ISS --
genes like me logo Genes that share ontologies with EIF2S1: view

Drugs & Compounds for EIF2S1 Gene

(34) Drugs for EIF2S1 Gene - From: HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cyclosporin A Approved, Investigational, Vet_approved Pharma Antagonist, Inhibitor, Inhibition Immunosuppressive agent, Calcineurin inhibitor 0
Guanosine triphosphate Experimental Pharma 0
Calcineurin Autoinhibitory Peptide Pharma CaMKII inhibitor, Selective calcineurin inhibitor 0
INCA-6 Pharma Selective calcineurin-NFAT signaling inhibitor, Inhibitor of calcineurin-substrate association 0

(20) Additional Compounds for EIF2S1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
FK 506
104987-11-3

(4) Tocris Compounds for EIF2S1 Gene

Compound Action Cas Number
Calcineurin Autoinhibitory Peptide Selective calcineurin inhibitor 148067-21-4
Cyclosporin A Calcineurin inhibitor 59865-13-3
FK 506 Potent calcineurin inhibitor; immunosuppressant 104987-11-3
INCA-6 Inhibitor of calcineurin-substrate association 3519-82-2
genes like me logo Genes that share compounds with EIF2S1: view

Transcripts for EIF2S1 Gene

mRNA/cDNA for EIF2S1 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EIF2S1

Alternative Splicing Database (ASD) splice patterns (SP) for EIF2S1 Gene

No ASD Table

Relevant External Links for EIF2S1 Gene

GeneLoc Exon Structure for
EIF2S1

Expression for EIF2S1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EIF2S1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EIF2S1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EIF2S1 Gene



Protein tissue co-expression partners for EIF2S1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EIF2S1

SOURCE GeneReport for Unigene cluster for EIF2S1 Gene:

Hs.151777

Evidence on tissue expression from TISSUES for EIF2S1 Gene

  • Liver(4.7)
  • Nervous system(4.5)
  • Lung(3.5)
  • Kidney(3.2)
  • Blood(3.2)
  • Pancreas(3.1)
  • Heart(3.1)
  • Intestine(3.1)
  • Stomach(3.1)
  • Muscle(3.1)
  • Bone(2.9)
  • Skin(2.9)
  • Lymph node(2.8)
  • Spleen(2.8)
  • Adrenal gland(2.7)
  • Eye(2.6)
  • Bone marrow(2.6)
  • Thyroid gland(2.3)
genes like me logo Genes that share expression patterns with EIF2S1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EIF2S1 Gene

Orthologs for EIF2S1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EIF2S1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EIF2S1 30 31
  • 99.79 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EIF2S1 31
  • 98 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia EIF2S1 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia EIF2S1 30 31
  • 94.81 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EIF2S1 30 31
  • 94.81 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Eif2s1 30 17 31
  • 93.33 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Eif2s1 30
  • 93.33 (n)
Chicken
(Gallus gallus)
Aves EIF2S1 30 31
  • 84.95 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EIF2S1 31
  • 97 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia eif2s1 30
  • 81.27 (n)
Str.6631 30
African clawed frog
(Xenopus laevis)
Amphibia eif2s1-prov 30
Zebrafish
(Danio rerio)
Actinopterygii eif2s1a 31
  • 94 (a)
OneToMany
eif2s1b 30 31
  • 77.25 (n)
OneToMany
-- 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7988 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011190 30
  • 61.11 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta eIF-2alpha 30 31 32
  • 58.14 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea Y37E3.10 30 31 32
  • 60.77 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SUI2 30 31 33
  • 61.32 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A11814g 30
  • 60.31 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGR320W 30
  • 57.97 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G40290 30
  • 56.12 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7752 30
Rice
(Oryza sativa)
Liliopsida Os07g0692800 30
  • 54.78 (n)
Os.11646 30
Corn
(Zea mays)
Liliopsida Zm.4283 30
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tif211 30
  • 59.82 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU08277 30
  • 55.63 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1492 30
Species where no ortholog for EIF2S1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for EIF2S1 Gene

ENSEMBL:
Gene Tree for EIF2S1 (if available)
TreeFam:
Gene Tree for EIF2S1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EIF2S1: view image

Paralogs for EIF2S1 Gene

No data available for Paralogs for EIF2S1 Gene

Variants for EIF2S1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EIF2S1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
708172 Benign: not provided 67,383,389(+) A/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for EIF2S1 Gene

Structural Variations from Database of Genomic Variants (DGV) for EIF2S1 Gene

Variant ID Type Subtype PubMed ID
esv2751285 CNV gain 17911159
nsv456331 CNV gain 19166990
nsv470651 CNV gain 18288195
nsv509539 CNV insertion 20534489
nsv564961 CNV gain 21841781
nsv832821 CNV gain 17160897

Variation tolerance for EIF2S1 Gene

Residual Variation Intolerance Score: 46.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.31; 6.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EIF2S1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EIF2S1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EIF2S1 Gene

Disorders for EIF2S1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for EIF2S1 Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for EIF2S1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with EIF2S1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EIF2S1 Gene

Publications for EIF2S1 Gene

  1. An upstream open reading frame regulates translation of GADD34 during cellular stresses that induce eIF2alpha phosphorylation. (PMID: 19131336) Lee YY … Jan E (The Journal of biological chemistry 2009) 3 4 23
  2. Solution structure of human initiation factor eIF2alpha reveals homology to the elongation factor eEF1B. (PMID: 15341733) Ito T … Wagner G (Structure (London, England : 1993) 2004) 3 4 23
  3. Cloning and sequencing of complementary DNAs encoding the alpha-subunit of translational initiation factor eIF-2. Characterization of the protein and its messenger RNA. (PMID: 2948954) Ernst H … Hershey JW (The Journal of biological chemistry 1987) 2 3 4
  4. eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation. (PMID: 23063529) Borck G … Basel-Vanagaite L (Molecular cell 2012) 3 4
  5. OGFOD1, a novel modulator of eukaryotic translation initiation factor 2alpha phosphorylation and the cellular response to stress. (PMID: 20154146) Wehner KA … Sarnow P (Molecular and cellular biology 2010) 3 23

Products for EIF2S1 Gene

Sources for EIF2S1 Gene