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Aliases for EIF2B3 Gene

Aliases for EIF2B3 Gene

  • Eukaryotic Translation Initiation Factor 2B, Subunit 3 Gamma, 58kDa 2 3
  • EIF-2B GDP-GTP Exchange Factor Subunit Gamma 3 4
  • Eukaryotic Translation Initiation Factor 2B, Subunit 3 (Gamma, 58kD) 2
  • Translation Initiation Factor EIF-2B Subunit Gamma 3
  • EIF2Bgamma 3
  • EIF-2B 3

External Ids for EIF2B3 Gene

Summaries for EIF2B3 Gene

Entrez Gene Summary for EIF2B3 Gene

  • The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

GeneCards Summary for EIF2B3 Gene

EIF2B3 (Eukaryotic Translation Initiation Factor 2B, Subunit 3 Gamma, 58kDa) is a Protein Coding gene. Diseases associated with EIF2B3 include eif2b3-related childhood ataxia with central nervous system hypomyelination/vanishing white matter and hepatitis c virus. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and Nanog in Mammalian ESC Pluripotency. GO annotations related to this gene include guanyl-nucleotide exchange factor activity and translation factor activity, RNA binding.

UniProtKB/Swiss-Prot for EIF2B3 Gene

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

Gene Wiki entry for EIF2B3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EIF2B3 Gene

Genomics for EIF2B3 Gene

Genomic Location for EIF2B3 Gene

Start:
44,850,522 bp from pter
End:
44,986,722 bp from pter
Size:
136,201 bases
Orientation:
Minus strand

Genomic View for EIF2B3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EIF2B3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EIF2B3 Gene

Regulatory Elements for EIF2B3 Gene

Proteins for EIF2B3 Gene

  • Protein details for EIF2B3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NR50-EI2BG_HUMAN
    Recommended name:
    Translation initiation factor eIF-2B subunit gamma
    Protein Accession:
    Q9NR50
    Secondary Accessions:
    • B2RBH8
    • D3DPZ2
    • Q5QP89
    • Q5QP90
    • Q8NDB5
    • Q8WV57
    • Q9H850

    Protein attributes for EIF2B3 Gene

    Size:
    452 amino acids
    Molecular mass:
    50240 Da
    Quaternary structure:
    • Complex of five different subunits; alpha, beta, gamma, delta and epsilon

    Alternative splice isoforms for EIF2B3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EIF2B3 Gene

Proteomics data for EIF2B3 Gene at MOPED

Post-translational modifications for EIF2B3 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys259

Other Protein References for EIF2B3 Gene

No data available for DME Specific Peptides for EIF2B3 Gene

Domains for EIF2B3 Gene

Protein Domains for EIF2B3 Gene

UniProtKB/Swiss-Prot:

EI2BG_HUMAN
Family:
  • Belongs to the eIF-2B gamma/epsilon subunits family.:
    • Q9NR50
genes like me logo Genes that share domains with EIF2B3: view

No data available for Gene Families for EIF2B3 Gene

Function for EIF2B3 Gene

Molecular function for EIF2B3 Gene

UniProtKB/Swiss-Prot Function: Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP

Gene Ontology (GO) - Molecular Function for EIF2B3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003743 contributes_to translation initiation factor activity IDA 10900014
GO:0005085 contributes_to guanyl-nucleotide exchange factor activity IMP 15054402
GO:0005515 protein binding IPI 15060152
GO:0008135 contributes_to translation factor activity, RNA binding IDA 10900014
GO:0016779 nucleotidyltransferase activity IEA --
genes like me logo Genes that share ontologies with EIF2B3: view

Phenotypes for EIF2B3 Gene

genes like me logo Genes that share phenotypes with EIF2B3: view

miRNA for EIF2B3 Gene

miRTarBase miRNAs that target EIF2B3

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for EIF2B3 Gene

Localization for EIF2B3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EIF2B3 Gene COMPARTMENTS Subcellular localization image for EIF2B3 gene
Compartment Confidence
cytosol 4
nucleus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for EIF2B3 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 EIF2B3: view

Pathways for EIF2B3 Gene

genes like me logo Genes that share pathways with EIF2B3: view

Pathways by source for EIF2B3 Gene

2 GeneGo (Thomson Reuters Life Sciences Research) pathways for EIF2B3 Gene
1 BioSystems pathway for EIF2B3 Gene

Gene Ontology (GO) - Biological Process for EIF2B3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation TAS --
GO:0006413 translational initiation TAS --
GO:0006417 regulation of translation --
GO:0009058 biosynthetic process --
GO:0009408 response to heat TAS 12499492
genes like me logo Genes that share ontologies with EIF2B3: view

Compounds for EIF2B3 Gene

(1) HMDB Compounds for EIF2B3 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1
genes like me logo Genes that share compounds with EIF2B3: view

Transcripts for EIF2B3 Gene

Unigene Clusters for EIF2B3 Gene

Eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EIF2B3 Gene

No ASD Table

Relevant External Links for EIF2B3 Gene

GeneLoc Exon Structure for
EIF2B3
ECgene alternative splicing isoforms for
EIF2B3

Expression for EIF2B3 Gene

mRNA expression in normal human tissues for EIF2B3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for EIF2B3 Gene

SOURCE GeneReport for Unigene cluster for EIF2B3 Gene Hs.533549

genes like me logo Genes that share expressions with EIF2B3: view

Orthologs for EIF2B3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EIF2B3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EIF2B3 36
  • 99.71 (n)
  • 99.78 (a)
EIF2B3 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EIF2B3 36
  • 91.06 (n)
  • 91.13 (a)
EIF2B3 37
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EIF2B3 36
  • 90.86 (n)
  • 89.6 (a)
EIF2B3 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eif2b3 36
  • 88.94 (n)
  • 91.81 (a)
Eif2b3 16
Eif2b3 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EIF2B3 37
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 68 (a)
OneToMany
-- 37
  • 84 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Eif2b3 36
  • 88.2 (n)
  • 90.49 (a)
chicken
(Gallus gallus)
Aves EIF2B3 36
  • 69.73 (n)
  • 70.8 (a)
EIF2B3 37
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EIF2B3 37
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia eif2b3-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia eif2b3 36
  • 64.6 (n)
  • 64.38 (a)
Str.2507 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5237 36
zebrafish
(Danio rerio)
Actinopterygii eif2b3 36
  • 65.25 (n)
  • 63.98 (a)
eif2b3 37
  • 64 (a)
OneToOne
zgc56473 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005210 36
  • 46.5 (n)
  • 34.87 (a)
fruit fly
(Drosophila melanogaster)
Insecta eIF2B-gamma 36
  • 48.42 (n)
  • 37.41 (a)
eIF2B-gamma 37
  • 33 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ppp-1 36
  • 43.45 (n)
  • 31.93 (a)
ppp-1 37
  • 29 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCD1 37
  • 19 (a)
OneToOne
GCD1 39
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G19485 36
  • 45.12 (n)
  • 30.47 (a)
rice
(Oryza sativa)
Liliopsida Os06g0338900 36
  • 44.68 (n)
  • 34.27 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03548 36
  • 40.72 (n)
  • 27.6 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tif223 36
  • 46.82 (n)
  • 35.37 (a)
Species with no ortholog for EIF2B3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EIF2B3 Gene

ENSEMBL:
Gene Tree for EIF2B3 (if available)
TreeFam:
Gene Tree for EIF2B3 (if available)

Paralogs for EIF2B3 Gene

Selected SIMAP similar genes for EIF2B3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with EIF2B3: view

No data available for Paralogs for EIF2B3 Gene

Variants for EIF2B3 Gene

Sequence variations from dbSNP and Humsavar for EIF2B3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs114833 -- 44,902,771(-) ggctc(A/G)cagca intron-variant
rs174636 -- 44,889,348(+) ctggt(C/G)aacat intron-variant
rs174637 -- 44,896,374(+) GTTGT(A/G)GGGGG intron-variant
rs174638 -- 44,922,903(-) gtgcc(A/G)ctgca intron-variant
rs183809 -- 44,977,665(-) CAACG(A/T)GGTAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EIF2B3 Gene

Variant ID Type Subtype PubMed ID
nsv870815 CNV Loss 21882294
esv2474011 CNV Deletion 19546169
esv2747774 CNV Deletion 23290073
esv2630872 CNV Deletion 19546169

Relevant External Links for EIF2B3 Gene

HapMap Linkage Disequilibrium report
EIF2B3
Human Gene Mutation Database (HGMD)
EIF2B3

Disorders for EIF2B3 Gene

(1) OMIM Diseases for EIF2B3 Gene (606273)

UniProtKB/Swiss-Prot

EI2BG_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:11835386, ECO:0000269 PubMed:19158808, ECO:0000269 PubMed:21484434}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EIF2B3

GeneTests
EIF2B3
GeneReviews
EIF2B3
Genetic Association Database (GAD)
EIF2B3
Human Genome Epidemiology (HuGE) Navigator
EIF2B3
genes like me logo Genes that share disorders with EIF2B3: view

Publications for EIF2B3 Gene

  1. Identification of eIF2B gamma and eIF2 gamma as cofactors of hepatitis C virus internal ribosome entry site-mediated translation using a functional genomics approach. (PMID: 10900014) Krueger M. … Wong-Staal F. (Proc. Natl. Acad. Sci. U.S.A. 2000) 2 3 4
  2. Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. (PMID: 11835386) van der Knaap M.S. … Pronk J.C. (Ann. Neurol. 2002) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. (PMID: 21484434) Matsukawa T. … Tsuji S. (Neurogenetics 2011) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for EIF2B3 Gene

Sources for EIF2B3 Gene

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