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Aliases for EIF2S2 Gene

Aliases for EIF2S2 Gene

  • Eukaryotic Translation Initiation Factor 2 Subunit Beta 2 3 4 5
  • Eukaryotic Translation Initiation Factor 2, Subunit 2 Beta, 38kDa 2 3
  • Protein Phosphatase 1, Regulatory Subunit 67 2 3
  • EIF-2-Beta 3 4
  • EIF2B 3 4
  • Eukaryotic Translation Initiation Factor 2, Subunit 2 (Beta, 38kD ) 2
  • Eukaryotic Translation Initiation Factor 2 Subunit 2 3
  • EIF2beta 3
  • PPP1R67 3
  • EIF2 3

External Ids for EIF2S2 Gene

Previous HGNC Symbols for EIF2S2 Gene

  • EIF2

Previous GeneCards Identifiers for EIF2S2 Gene

  • GC20M032435
  • GC20M033345
  • GC20M033392
  • GC20M033391
  • GC20M032140
  • GC20M032676
  • GC20M029461

Summaries for EIF2S2 Gene

Entrez Gene Summary for EIF2S2 Gene

  • Eukaryotic translation initiation factor 2 (EIF-2) functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA and binding to a 40S ribosomal subunit. EIF-2 is composed of three subunits, alpha, beta, and gamma, with the protein encoded by this gene representing the beta subunit. The beta subunit catalyzes the exchange of GDP for GTP, which recycles the EIF-2 complex for another round of initiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

GeneCards Summary for EIF2S2 Gene

EIF2S2 (Eukaryotic Translation Initiation Factor 2 Subunit Beta) is a Protein Coding gene. Diseases associated with EIF2S2 include Leukoencephalopathy With Vanishing White Matter. 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 translation initiation factor activity.

UniProtKB/Swiss-Prot for EIF2S2 Gene

  • eIF-2 functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA. This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form a 43S preinitiation complex. 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. 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.

Gene Wiki entry for EIF2S2 Gene

Additional gene information for EIF2S2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EIF2S2 Gene

Genomics for EIF2S2 Gene

GeneHancer (GH) Regulatory Elements for EIF2S2 Gene

Promoters and enhancers for EIF2S2 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
GH20I034110 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.5 530 3.4 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 GLIS1 EIF2S2 TRPC4AP RALY ZNF341-AS1 NCOA6 GGT7 MAP1LC3A MIR4755
GH20I033684 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 13.8 +426.4 426432 2.9 HDGF SMAD1 ARNT MLX ARID4B SIN3A DMAP1 SLC30A9 E2F8 ZNF143 E2F1 ZNF341-AS1 BAK1P1 EIF2S2 ACTL10 RALY CBFA2T2 AHCY ENSG00000271803
GH20I033719 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 13.8 +392.2 392172 1.6 HDGF PKNOX1 SIN3A YY1 ZNF207 ZNF143 FOS SP3 CEBPZ NFYC PXMP4 ZNF341-AS1 EIF2S2 ACTL10 PIGU CBFA2T2 GC20M033707
GH20I034068 Enhancer 1.3 Ensembl ENCODE dbSUPER 0.3 +43.2 43189 1.9 PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 ZNF2 ZNF48 ARID2 ZNF143 MAP1LC3A MIR4755 EIF2S2 RALY
GH20I034082 Enhancer 1.1 ENCODE dbSUPER 0.3 +28.9 28907 1.8 HDAC1 PKNOX1 ATF1 TAF9B NFIB SIN3A BMI1 RAD21 ZNF766 ZNF366 EIF2S2 MIR4755 RALY
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EIF2S2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EIF2S2 gene promoter:

Genomic Locations for EIF2S2 Gene

Genomic Locations for EIF2S2 Gene
chr20:34,088,298-34,112,332
(GRCh38/hg38)
Size:
24,035 bases
Orientation:
Minus strand
chr20:32,676,104-32,700,138
(GRCh37/hg19)

Genomic View for EIF2S2 Gene

Genes around EIF2S2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EIF2S2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EIF2S2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EIF2S2 Gene

Proteins for EIF2S2 Gene

  • Protein details for EIF2S2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20042-IF2B_HUMAN
    Recommended name:
    Eukaryotic translation initiation factor 2 subunit 2
    Protein Accession:
    P20042
    Secondary Accessions:
    • Q9BVU0
    • Q9UJE4

    Protein attributes for EIF2S2 Gene

    Size:
    333 amino acids
    Molecular mass:
    38388 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 (By similarity).

neXtProt entry for EIF2S2 Gene

Post-translational modifications for EIF2S2 Gene

  • Ubiquitination at Lys52, Lys132, and Lys227
  • Modification sites at PhosphoSitePlus

Other Protein References for EIF2S2 Gene

No data available for DME Specific Peptides for EIF2S2 Gene

Domains & Families for EIF2S2 Gene

Gene Families for EIF2S2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

P20042

UniProtKB/Swiss-Prot:

IF2B_HUMAN :
  • Belongs to the eIF-2-beta/eIF-5 family.
Family:
  • Belongs to the eIF-2-beta/eIF-5 family.
genes like me logo Genes that share domains with EIF2S2: view

Function for EIF2S2 Gene

Molecular function for EIF2S2 Gene

UniProtKB/Swiss-Prot Function:
eIF-2 functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA. This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form a 43S preinitiation complex. 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. 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.

Phenotypes From GWAS Catalog for EIF2S2 Gene

Gene Ontology (GO) - Molecular Function for EIF2S2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA,TAS 22658674
GO:0003743 translation initiation factor activity IDA 16289705
GO:0005515 protein binding IPI 11959995
GO:0008135 translation factor activity, RNA binding TAS 3044606
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with EIF2S2: view
genes like me logo Genes that share phenotypes with EIF2S2: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EIF2S2 Gene

Localization for EIF2S2 Gene

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 EIF2S2 gene
Compartment Confidence
cytosol 5
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EIF2S2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 NOT nucleus IDA 12426392
GO:0005737 cytoplasm IDA 12426392
GO:0005829 cytosol TAS --
GO:0005850 eukaryotic translation initiation factor 2 complex TAS,IDA 23063529
genes like me logo Genes that share ontologies with EIF2S2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for EIF2S2 Gene

Pathways & Interactions for EIF2S2 Gene

genes like me logo Genes that share pathways with EIF2S2: view

SIGNOR curated interactions for EIF2S2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for EIF2S2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0002176 male germ cell proliferation IEA --
GO:0006412 translation IEA --
GO:0006413 translational initiation TAS --
GO:0008584 male gonad development IEA --
genes like me logo Genes that share ontologies with EIF2S2: view

Drugs & Compounds for EIF2S2 Gene

(10) Drugs for EIF2S2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(9) Additional Compounds for EIF2S2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with EIF2S2: view

Transcripts for EIF2S2 Gene

mRNA/cDNA for EIF2S2 Gene

Unigene Clusters for EIF2S2 Gene

Eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EIF2S2 Gene

No ASD Table

Relevant External Links for EIF2S2 Gene

GeneLoc Exon Structure for
EIF2S2
ECgene alternative splicing isoforms for
EIF2S2

Expression for EIF2S2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EIF2S2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EIF2S2 Gene

This gene is overexpressed in Lavage (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EIF2S2 Gene



Protein tissue co-expression partners for EIF2S2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EIF2S2 Gene:

EIF2S2

SOURCE GeneReport for Unigene cluster for EIF2S2 Gene:

Hs.429180

Evidence on tissue expression from TISSUES for EIF2S2 Gene

  • Liver(4.7)
  • Lung(4.7)
  • Nervous system(4.4)
  • Intestine(3.5)
  • Bone(2.5)
  • Blood(2.1)
  • Heart(2.1)
  • Skin(2.1)
  • Spleen(2)
genes like me logo Genes that share expression patterns with EIF2S2: 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 EIF2S2 Gene

Orthologs for EIF2S2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EIF2S2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EIF2S2 34 33
  • 99.5 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EIF2S2 34
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EIF2S2 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EIF2S2 33 34
  • 94.89 (n)
cow
(Bos Taurus)
Mammalia EIF2S2 33 34
  • 94.09 (n)
rat
(Rattus norvegicus)
Mammalia Eif2s2 33
  • 92.89 (n)
mouse
(Mus musculus)
Mammalia Eif2s2 33 16 34
  • 92.65 (n)
chicken
(Gallus gallus)
Aves EIF2B 34
  • 94 (a)
OneToOne
EIF2S2 33
  • 84.18 (n)
lizard
(Anolis carolinensis)
Reptilia EIF2S2 34
  • 93 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii eif2s2 33 34
  • 74.72 (n)
fruit fly
(Drosophila melanogaster)
Insecta eIF-2bgr 35
  • 81 (a)
eIF-2beta 33 34
  • 62.77 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007218 33
  • 61.43 (n)
worm
(Caenorhabditis elegans)
Secernentea iftb-1 34
  • 52 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SUI3 34 36
  • 46 (a)
OneToOne
soybean
(Glycine max)
eudicotyledons Gma.1845 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.2183 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10528 34
  • 49 (a)
OneToOne
Species where no ortholog for EIF2S2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for EIF2S2 Gene

ENSEMBL:
Gene Tree for EIF2S2 (if available)
TreeFam:
Gene Tree for EIF2S2 (if available)

Paralogs for EIF2S2 Gene

genes like me logo Genes that share paralogs with EIF2S2: view

No data available for Paralogs for EIF2S2 Gene

Variants for EIF2S2 Gene

Sequence variations from dbSNP and Humsavar for EIF2S2 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000013689 -- 34,094,459(-) T/G intron_variant
rs1000159291 -- 34,101,903(-) G/T intron_variant
rs1000184739 -- 34,106,693(-) G/A intron_variant
rs1000394839 -- 34,109,911(-) T/A/C intron_variant
rs1000741050 -- 34,106,951(-) G/A/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EIF2S2 Gene

Variant ID Type Subtype PubMed ID
esv3645693 CNV loss 21293372
nsv964391 CNV duplication 23825009

Variation tolerance for EIF2S2 Gene

Residual Variation Intolerance Score: 49.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.47; 28.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EIF2S2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EIF2S2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EIF2S2 Gene

Disorders for EIF2S2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EIF2S2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
leukoencephalopathy with vanishing white matter
  • vwm
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for EIF2S2

genes like me logo Genes that share disorders with EIF2S2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EIF2S2 Gene

Publications for EIF2S2 Gene

  1. Structure of the beta subunit of translational initiation factor eIF-2. (PMID: 3044606) Pathak VK … Hershey JW (Cell 1988) 2 3 4 58
  2. 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 58
  3. Intersubunit and interprotein interactions of alpha- and beta-subunits of human eIF2: Effect of phosphorylation. (PMID: 18639529) Rajesh K … Ramaiah KV (Biochemical and biophysical research communications 2008) 3 22 58
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  5. Interaction of recombinant human eIF2 subunits with eIF2B and eIF2alpha kinases. (PMID: 16288713) Suragani RN … Ramaiah KV (Biochemical and biophysical research communications 2005) 3 22 58

Products for EIF2S2 Gene

Sources for EIF2S2 Gene

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