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Aliases for EIF2B2 Gene

Aliases for EIF2B2 Gene

  • 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
  • Translation Initiation Factor EIF-2B Subunit Beta 3
  • EIF-2Bbeta 3
  • EIF2BB 4
  • EIF2B 3

External Ids for EIF2B2 Gene

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 2 Beta, 39kDa) is a Protein Coding gene. Diseases associated with EIF2B2 include eif2b2-related childhood ataxia with central nervous system hypomyelination/vanishing white matter and congenital or early infantile cach syndrome. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and Nanog in Mammalian ESC Pluripotency. 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

Genomic Location for EIF2B2 Gene

Start:
75,002,909 bp from pter
End:
75,012,366 bp from pter
Size:
9,458 bases
Orientation:
Plus strand

Genomic View for EIF2B2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EIF2B2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EIF2B2 Gene

Regulatory Elements for EIF2B2 Gene

Proteins for EIF2B2 Gene

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

    Protein Symbol:
    P49770-EI2BB_HUMAN
    Recommended name:
    Translation initiation factor eIF-2B subunit beta
    Protein Accession:
    P49770
    Secondary Accessions:
    • O43201

    Protein attributes for EIF2B2 Gene

    Size:
    351 amino acids
    Molecular mass:
    38990 Da
    Quaternary structure:
    • Complex of five different subunits; alpha, beta, gamma, delta and epsilon
    SequenceCaution:
    • 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys237

Other Protein References for EIF2B2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for EIF2B2 Gene

Domains for EIF2B2 Gene

Protein Domains for EIF2B2 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

EI2BB_HUMAN
Family:
  • Belongs to the eIF-2B alpha/beta/delta subunits family.:
    • P49770
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

Gene Ontology (GO) - Molecular Function for EIF2B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003743 contributes_to translation initiation factor activity IDA 16289705
GO:0005085 contributes_to guanyl-nucleotide exchange factor activity IMP 15054402
GO:0005515 protein binding IPI 15060152
GO:0005524 ATP binding IDA 11323413
GO:0005525 GTP binding IDA 11323413
genes like me logo Genes that share ontologies with EIF2B2: view
genes like me logo Genes that share phenotypes with EIF2B2: view

miRNA for EIF2B2 Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for EIF2B2 Gene

Localization for EIF2B2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EIF2B2 Gene COMPARTMENTS Subcellular localization image for EIF2B2 gene
Compartment Confidence
cytosol 4
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for EIF2B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 11323413
GO:0005829 cytosol TAS --
GO:0005851 eukaryotic translation initiation factor 2B complex IDA 11323413
genes like me logo Genes that share ontologies with EIF2B2: view

Pathways for EIF2B2 Gene

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

Pathways by source for EIF2B2 Gene

2 GeneGo (Thomson Reuters Life Sciences Research) pathways for EIF2B2 Gene
1 BioSystems pathway for EIF2B2 Gene

Gene Ontology (GO) - Biological Process for EIF2B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001541 ovarian follicle development IMP 15507143
GO:0006412 translation TAS --
GO:0006413 translational initiation TAS --
GO:0006446 regulation of translational initiation TAS 15060152
GO:0007417 central nervous system development IMP 15776425
genes like me logo Genes that share ontologies with EIF2B2: view

Compounds for EIF2B2 Gene

(1) HMDB Compounds for EIF2B2 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1

(2) Novoseek inferred chemical compound relationships for EIF2B2 Gene

Compound -log(P) Hits PubMed IDs
gdp 43.3 1
gtp 41.7 2
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: - -
SP3:
SP4:

Relevant External Links for EIF2B2 Gene

GeneLoc Exon Structure for
EIF2B2
ECgene alternative splicing isoforms for
EIF2B2

Expression for EIF2B2 Gene

mRNA expression in normal human tissues for EIF2B2 Gene

Integrated Proteomics: protein expression 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 expressions with EIF2B2: view

Orthologs for EIF2B2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EIF2B2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EIF2B2 36
  • 99.53 (n)
  • 99.43 (a)
EIF2B2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EIF2B2 36
  • 90.5 (n)
  • 96.58 (a)
EIF2B2 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EIF2B2 36
  • 92.69 (n)
  • 94.87 (a)
EIF2B2 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eif2b2 36
  • 89.08 (n)
  • 94.02 (a)
Eif2b2 16
Eif2b2 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 91 (a)
OneToMany
-- 37
  • 85 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia EIF2B2 37
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eif2b2 36
  • 90.22 (n)
  • 93.73 (a)
chicken
(Gallus gallus)
Aves EIF2B2 36
  • 79.01 (n)
  • 83.76 (a)
EIF2B2 37
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EIF2B2 37
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eif2b2 36
  • 71.79 (n)
  • 79.77 (a)
Str.5710 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3346 36
zebrafish
(Danio rerio)
Actinopterygii Dr.4626 36
eif2b2 36
  • 72.67 (n)
  • 80.86 (a)
eif2b2 37
  • 80 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007097 36
  • 55.56 (n)
  • 51.57 (a)
fruit fly
(Drosophila melanogaster)
Insecta eIF2B-beta 36
  • 56.07 (n)
  • 50 (a)
eIF2B-beta 37
  • 47 (a)
OneToOne
eIF2B-bgr 38
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea Y47H9C.7 37
  • 25 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR292C 36
  • 48.33 (n)
  • 35.88 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCD7 36
  • 44.71 (n)
  • 35.91 (a)
GCD7 37
  • 31 (a)
OneToOne
GCD7 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A04433g 36
  • 45.96 (n)
  • 36.69 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G07300 36
  • 52.02 (n)
  • 46.73 (a)
rice
(Oryza sativa)
Liliopsida Os10g0392700 36
  • 51.44 (n)
  • 44.88 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC343.14c 36
  • 49.5 (n)
  • 43.41 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5793 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 51 (a)
OneToOne
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

ENSEMBL:
Gene Tree for EIF2B2 (if available)
TreeFam:
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 MAF
rs4556 -- 75,009,368(+) TCCAG(C/G)ACTGT utr-variant-3-prime
rs175038 -- 75,001,213(+) TGACA(A/C)ATATT upstream-variant-2KB
rs175039 -- 75,002,247(+) TGTAG(C/G)AGGAC upstream-variant-2KB
rs175040 -- 75,002,852(+) GGCGT(A/G)GCCGG upstream-variant-2KB
rs175041 -- 75,003,743(+) AGGCA(A/C)ATAAG intron-variant

Relevant External Links for EIF2B2 Gene

HapMap Linkage Disequilibrium report
EIF2B2
Human Gene Mutation Database (HGMD)
EIF2B2

No data available for Structural Variations from Database of Genomic Variants (DGV) for EIF2B2 Gene

Disorders for EIF2B2 Gene

(1) OMIM Diseases for EIF2B2 Gene (606454)

UniProtKB/Swiss-Prot

EI2BB_HUMAN
  • 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.

(2) Novoseek inferred disease relationships for EIF2B2 Gene

Disease -log(P) Hits PubMed IDs
leukodystrophy 69.6 1
shock 5.77 1

Relevant External Links for EIF2B2

GeneTests
EIF2B2
GeneReviews
EIF2B2
Genetic Association Database (GAD)
EIF2B2
Human Genome Epidemiology (HuGE) Navigator
EIF2B2
genes like me logo Genes that share disorders with EIF2B2: view

Publications for EIF2B2 Gene

  1. 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 4 23
  2. Ovarian failure related to eukaryotic initiation factor 2B mutations. (PMID: 12707859) Fogli A. … Boespflug-Tanguy O. (Am. J. Hum. Genet. 2003) 3 4 23
  3. Identification of ten novel mutations in patients with eIF2B-related disorders. (PMID: 15776425) Ohlenbusch A. … Gartner J. (Hum. Mutat. 2005) 3 4 23
  4. 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
  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

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