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Aliases for EIF2B2 Gene

Aliases for EIF2B2 Gene

  • Eukaryotic Translation Initiation Factor 2B Subunit Beta 2 3 5
  • Eukaryotic Translation Initiation Factor 2B, Subunit 2 Beta, 39kDa 2 3
  • EIF-2B GDP-GTP Exchange Factor Subunit Beta 3 4
  • S20III15 3 4
  • S20I15 3 4
  • Eukaryotic Translation Initiation Factor 2B, Subunit 2 (Beta, 39kD) 2
  • EIF-2Bbeta 3
  • EIF2BB 4
  • EIF2B 3

External Ids for EIF2B2 Gene

Previous GeneCards Identifiers for EIF2B2 Gene

  • GC14P072996
  • GC14P069286
  • GC14P073459
  • GC14P074539
  • GC14P075469
  • GC14P055637

Summaries for EIF2B2 Gene

Entrez Gene Summary for EIF2B2 Gene

  • This gene encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B). EIF2B is involved in protein synthesis and exchanges GDP and GTP for its activation and deactivation. [provided by RefSeq, Aug 2011]

GeneCards Summary for EIF2B2 Gene

EIF2B2 (Eukaryotic Translation Initiation Factor 2B Subunit Beta) is a Protein Coding gene. Diseases associated with EIF2B2 include Leukoencephalopathy With Vanishing White Matter and Late Infantile Cach Syndrome. Among its related pathways are Gene Expression and Translation Insulin regulation of translation. GO annotations related to this gene include GTP binding and translation initiation factor activity.

UniProtKB/Swiss-Prot for EIF2B2 Gene

  • Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.

Gene Wiki entry for EIF2B2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EIF2B2 Gene

Genomics for EIF2B2 Gene

Regulatory Elements for EIF2B2 Gene

Enhancers for EIF2B2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around EIF2B2 on UCSC Golden Path with GeneCards custom track

Promoters for EIF2B2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EIF2B2 on UCSC Golden Path with GeneCards custom track

Genomic Location for EIF2B2 Gene

75,002,909 bp from pter
75,012,366 bp from pter
9,458 bases
Plus strand

Genomic View for EIF2B2 Gene

Genes around EIF2B2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EIF2B2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EIF2B2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EIF2B2 Gene

Proteins for EIF2B2 Gene

  • Protein details for EIF2B2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Translation initiation factor eIF-2B subunit beta
    Protein Accession:
    Secondary Accessions:
    • O43201

    Protein attributes for EIF2B2 Gene

    351 amino acids
    Molecular mass:
    38990 Da
    Quaternary structure:
    • Complex of five different subunits; alpha, beta, gamma, delta and epsilon.
    • Sequence=AAC42002.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

neXtProt entry for EIF2B2 Gene

Proteomics data for EIF2B2 Gene at MOPED

Post-translational modifications for EIF2B2 Gene

  • Ubiquitination at Lys 237
  • Modification sites at PhosphoSitePlus

Other Protein References for EIF2B2 Gene

No data available for DME Specific Peptides for EIF2B2 Gene

Domains & Families for EIF2B2 Gene

Protein Domains for EIF2B2 Gene


Graphical View of Domain Structure for InterPro Entry



  • Belongs to the eIF-2B alpha/beta/delta subunits family.
  • Belongs to the eIF-2B alpha/beta/delta subunits family.
genes like me logo Genes that share domains with EIF2B2: view

No data available for Gene Families for EIF2B2 Gene

Function for EIF2B2 Gene

Molecular function for EIF2B2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.
genes like me logo Genes that share phenotypes with EIF2B2: view

Human Phenotype Ontology for EIF2B2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EIF2B2 Gene

MGI Knock Outs for EIF2B2:

Animal Model Products

miRNA for EIF2B2 Gene

miRTarBase miRNAs that target EIF2B2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for EIF2B2 Gene

Localization for EIF2B2 Gene

Subcellular locations from

Jensen Localization Image for EIF2B2 Gene COMPARTMENTS Subcellular localization image for EIF2B2 gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 3
cytoskeleton 1
endoplasmic reticulum 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for EIF2B2 Gene

Pathways & Interactions for EIF2B2 Gene

genes like me logo Genes that share pathways with EIF2B2: view

Pathways by source for EIF2B2 Gene

SIGNOR curated interactions for EIF2B2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for EIF2B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation TAS --
GO:0006413 translational initiation IDA,TAS 16289705
GO:0006446 regulation of translational initiation TAS 15060152
GO:0007417 central nervous system development IMP 15776425
GO:0009408 response to heat TAS 12499492
genes like me logo Genes that share ontologies with EIF2B2: view

Drugs & Compounds for EIF2B2 Gene

(1) Drugs for EIF2B2 Gene - From: HMDB

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

(2) Additional Compounds for EIF2B2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with EIF2B2: view

Transcripts for EIF2B2 Gene

Unigene Clusters for EIF2B2 Gene

Eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EIF2B2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9
SP1: - -
SP2: - -

Relevant External Links for EIF2B2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EIF2B2 Gene

mRNA expression in normal human tissues for EIF2B2 Gene

Protein differential expression in normal tissues from HIPED for EIF2B2 Gene

This gene is overexpressed in Pancreas (15.7) and Peripheral blood mononuclear cells (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EIF2B2 Gene

SOURCE GeneReport for Unigene cluster for EIF2B2 Gene Hs.409137

genes like me logo Genes that share expression patterns with EIF2B2: view

Protein tissue co-expression partners for EIF2B2 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for EIF2B2 Gene

Orthologs for EIF2B2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EIF2B2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia EIF2B2 35
  • 90.5 (n)
  • 96.58 (a)
EIF2B2 36
  • 97 (a)
(Canis familiaris)
Mammalia EIF2B2 35
  • 92.69 (n)
  • 94.87 (a)
EIF2B2 36
  • 95 (a)
(Mus musculus)
Mammalia Eif2b2 35
  • 89.08 (n)
  • 94.02 (a)
Eif2b2 16
Eif2b2 36
  • 94 (a)
(Pan troglodytes)
Mammalia EIF2B2 35
  • 99.53 (n)
  • 99.43 (a)
EIF2B2 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Eif2b2 35
  • 90.22 (n)
  • 93.73 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 91 (a)
-- 36
  • 85 (a)
(Ornithorhynchus anatinus)
Mammalia EIF2B2 36
  • 82 (a)
(Gallus gallus)
Aves EIF2B2 35
  • 79.01 (n)
  • 83.76 (a)
EIF2B2 36
  • 84 (a)
(Anolis carolinensis)
Reptilia EIF2B2 36
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia eif2b2 35
  • 71.79 (n)
  • 79.77 (a)
Str.5710 35
(Danio rerio)
Actinopterygii Dr.4626 35
eif2b2 35
  • 72.67 (n)
  • 80.86 (a)
eif2b2 36
  • 80 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3346 35
fruit fly
(Drosophila melanogaster)
Insecta eIF2B-bgr 37
  • 48 (a)
eIF2B-beta 35
  • 56.07 (n)
  • 50 (a)
eIF2B-beta 36
  • 47 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007097 35
  • 55.56 (n)
  • 51.57 (a)
(Caenorhabditis elegans)
Secernentea Y47H9C.7 36
  • 25 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR292C 35
  • 48.33 (n)
  • 35.88 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A04433g 35
  • 45.96 (n)
  • 36.69 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCD7 35
  • 44.71 (n)
  • 35.91 (a)
GCD7 36
  • 31 (a)
GCD7 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G07300 35
  • 52.02 (n)
  • 46.73 (a)
(Oryza sativa)
Liliopsida Os10g0392700 35
  • 51.44 (n)
  • 44.88 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5793 35
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC343.14c 35
  • 49.5 (n)
  • 43.41 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
Species with no ortholog for EIF2B2:
  • 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)
  • 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)
  • 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 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 EIF2B2 Gene

Gene Tree for EIF2B2 (if available)
Gene Tree for EIF2B2 (if available)

Paralogs for EIF2B2 Gene

No data available for Paralogs for EIF2B2 Gene

Variants for EIF2B2 Gene

Sequence variations from dbSNP and Humsavar for EIF2B2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
VAR_012289 Leukodystrophy with vanishing white matter (VWM)
VAR_012290 Leukodystrophy with vanishing white matter (VWM)
VAR_012321 Leukodystrophy with vanishing white matter (VWM)
VAR_012322 Leukodystrophy with vanishing white matter (VWM)
VAR_016842 Leukodystrophy with vanishing white matter (VWM)

Variation tolerance for EIF2B2 Gene

Residual Variation Intolerance Score: 27.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.31; 25.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EIF2B2 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for EIF2B2 Gene

Disorders for EIF2B2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for EIF2B2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards


  • Leukodystrophy with vanishing white matter (VWM) [MIM:603896]: A leukodystrophy that occurs mainly in children. Neurological signs include progressive cerebellar ataxia, spasticity, inconstant optic atrophy and relatively preserved mental abilities. The disease is chronic-progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. While childhood onset is the most common form of the disorder, some severe forms are apparent at birth. A severe, early-onset form seen among the Cree and Chippewayan populations of Quebec and Manitoba is called Cree leukoencephalopathy. Milder forms may not become evident until adolescence or adulthood. Some females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy. {ECO:0000269 PubMed:11704758, ECO:0000269 PubMed:12707859, ECO:0000269 PubMed:15776425, ECO:0000269 PubMed:21484434, ECO:0000269 PubMed:22285377, ECO:0000269 PubMed:22729508}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EIF2B2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with EIF2B2: view

No data available for Genatlas for EIF2B2 Gene

Publications for EIF2B2 Gene

  1. Identification of ten novel mutations in patients with eIF2B-related disorders. (PMID: 15776425) Ohlenbusch A. … Gartner J. (Hum. Mutat. 2005) 3 4 23 67
  2. Ovarian failure related to eukaryotic initiation factor 2B mutations. (PMID: 12707859) Fogli A. … Boespflug-Tanguy O. (Am. J. Hum. Genet. 2003) 3 23
  3. Characterization of the mammalian initiation factor eIF2B complex as a GDP dissociation stimulator protein. (PMID: 11323413) Williams D.D. … Proud C.G. (J. Biol. Chem. 2001) 3 23
  4. Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. (PMID: 11704758) Leegwater P.A.J. … van der Knaap M.S. (Nat. Genet. 2001) 3 23
  5. Identification of a regulatory subcomplex in the guanine nucleotide exchange factor eIF2B that mediates inhibition by phosphorylated eIF2. (PMID: 8887689) Yang W. … Hinnebusch A.G. (Mol. Cell. Biol. 1996) 2 3

Products for EIF2B2 Gene

Sources for EIF2B2 Gene