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Aliases for EIF2B5 Gene

Aliases for EIF2B5 Gene

  • Eukaryotic Translation Initiation Factor 2B Subunit Epsilon 2 3 5
  • Eukaryotic Translation Initiation Factor 2B, Subunit 5 Epsilon, 82kDa 2 3
  • EIF-2B GDP-GTP Exchange Factor Subunit Epsilon 3 4
  • Eukaryotic Translation Initiation Factor 2B, Subunit 5 (Epsilon, 82kD) 2
  • EIF2Bepsilon 3
  • EIF-2B 3
  • EIF2BE 4
  • Cach 3
  • LVWM 3
  • CLE 3

External Ids for EIF2B5 Gene

Previous GeneCards Identifiers for EIF2B5 Gene

  • GC03P180769
  • GC03P184848
  • GC03P185255
  • GC03P185173
  • GC03P185335
  • GC03P183852
  • GC03P181260

Summaries for EIF2B5 Gene

Entrez Gene Summary for EIF2B5 Gene

  • This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Nov 2009]

GeneCards Summary for EIF2B5 Gene

EIF2B5 (Eukaryotic Translation Initiation Factor 2B Subunit Epsilon) is a Protein Coding gene. Diseases associated with EIF2B5 include leukoencephalopathy with vanishing white matter and late infantile cach syndrome. Among its related pathways are Gene Expression and Transport to the Golgi and subsequent modification. GO annotations related to this gene include binding and translation initiation factor activity.

UniProtKB/Swiss-Prot for EIF2B5 Gene

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

Gene Wiki entry for EIF2B5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EIF2B5 Gene

Genomics for EIF2B5 Gene

Regulatory Elements for EIF2B5 Gene

Promoters for EIF2B5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EIF2B5 on UCSC Golden Path with GeneCards custom track

Genomic Location for EIF2B5 Gene

Chromosome:
3
Start:
184,134,435 bp from pter
End:
184,684,758 bp from pter
Size:
550,324 bases
Orientation:
Plus strand

Genomic View for EIF2B5 Gene

Genes around EIF2B5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EIF2B5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EIF2B5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EIF2B5 Gene

Proteins for EIF2B5 Gene

  • Protein details for EIF2B5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13144-EI2BE_HUMAN
    Recommended name:
    Translation initiation factor eIF-2B subunit epsilon
    Protein Accession:
    Q13144
    Secondary Accessions:
    • Q541Z1
    • Q96D04

    Protein attributes for EIF2B5 Gene

    Size:
    721 amino acids
    Molecular mass:
    80380 Da
    Quaternary structure:
    • Complex of five different subunits; alpha, beta, gamma, delta and epsilon. Interacts with RGS2.

    Three dimensional structures from OCA and Proteopedia for EIF2B5 Gene

neXtProt entry for EIF2B5 Gene

Proteomics data for EIF2B5 Gene at MOPED

Post-translational modifications for EIF2B5 Gene

  • Phosphorylated at Ser-544 by DYRK2; this is required for subsequent phosphorylation by GSK3B (By similarity). Phosphorylated on serine and threonine residues by GSK3B; phosphorylation inhibits its function.
  • Polyubiquitinated, probably by NEDD4.
  • Ubiquitination at Lys 61, Lys 103, Lys 141, Lys 217, Lys 420, Lys 481, and Lys 493
  • Modification sites at PhosphoSitePlus

Other Protein References for EIF2B5 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for EIF2B5 (eIF2B-epsilon)

No data available for DME Specific Peptides for EIF2B5 Gene

Domains & Families for EIF2B5 Gene

Suggested Antigen Peptide Sequences for EIF2B5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13144

UniProtKB/Swiss-Prot:

EI2BE_HUMAN :
  • Contains 1 W2 domain.
  • Belongs to the eIF-2B gamma/epsilon subunits family.
Domain:
  • Contains 1 W2 domain.
Family:
  • Belongs to the eIF-2B gamma/epsilon subunits family.
genes like me logo Genes that share domains with EIF2B5: view

No data available for Gene Families for EIF2B5 Gene

Function for EIF2B5 Gene

Molecular function for EIF2B5 Gene

GENATLAS Biochemistry:
eukariotic translation initiation factor 2B,subunit 5,ubiquitously expressed (epsilon,82kDa)
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 EIF2B5: view

Human Phenotype Ontology for EIF2B5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EIF2B5 Gene

MGI Knock Outs for EIF2B5:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for EIF2B5 Gene

Localization for EIF2B5 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EIF2B5 Gene COMPARTMENTS Subcellular localization image for EIF2B5 gene
Compartment Confidence
cytosol 5
nucleus 5
endoplasmic reticulum 2
mitochondrion 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for EIF2B5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with EIF2B5: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for EIF2B5 Gene

Pathways & Interactions for EIF2B5 Gene

genes like me logo Genes that share pathways with EIF2B5: view

SIGNOR curated interactions for EIF2B5 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for EIF2B5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation TAS --
GO:0006413 translational initiation IDA,TAS 16289705
GO:0006417 regulation of translation IEA --
GO:0007568 aging IEA --
GO:0009749 response to glucose IEA,ISS --
genes like me logo Genes that share ontologies with EIF2B5: view

Drugs & Compounds for EIF2B5 Gene

(1) Drugs for EIF2B5 Gene - From: HMDB

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

(1) Additional Compounds for EIF2B5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with EIF2B5: view

Transcripts for EIF2B5 Gene

Unigene Clusters for EIF2B5 Gene

Eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EIF2B5 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^
SP1: - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - -
SP4: - - -
SP5: -
SP6: - - - - - - - - -
SP7: -
SP8:
SP9: - - -
SP10:
SP11: - - - - - - - - - - - - - - - - - - -
SP12: - - - - -
SP13: - -
SP14:
SP15:
SP16: - - -
SP17:

ExUns: 14a · 14b ^ 15a · 15b · 15c · 15d ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b · 19c ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c · 22d
SP1: - - - - -
SP2: - -
SP3: - -
SP4:
SP5:
SP6:
SP7: -
SP8: - -
SP9:
SP10: -
SP11: - - -
SP12:
SP13: -
SP14: -
SP15:
SP16:
SP17:

Relevant External Links for EIF2B5 Gene

GeneLoc Exon Structure for
EIF2B5
ECgene alternative splicing isoforms for
EIF2B5

Expression for EIF2B5 Gene

mRNA expression in normal human tissues for EIF2B5 Gene

Protein differential expression in normal tissues from HIPED for EIF2B5 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (7.9) and Bone (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EIF2B5 Gene



SOURCE GeneReport for Unigene cluster for EIF2B5 Gene Hs.283551

genes like me logo Genes that share expression patterns with EIF2B5: view

Protein tissue co-expression partners for EIF2B5 Gene

- Elite partner

Primer Products

In Situ Assay 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 EIF2B5 Gene

Orthologs for EIF2B5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EIF2B5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EIF2B5 36
  • 100 (a)
OneToOne
EIF2B5 35
  • 99.72 (n)
  • 99.72 (a)
cow
(Bos Taurus)
Mammalia EIF2B5 36
  • 93 (a)
OneToOne
EIF2B5 35
  • 90.39 (n)
  • 93.25 (a)
dog
(Canis familiaris)
Mammalia EIF2B5 36
  • 93 (a)
OneToOne
EIF2B5 35
  • 91.62 (n)
  • 93.5 (a)
mouse
(Mus musculus)
Mammalia Eif2b5 16
Eif2b5 36
  • 88 (a)
OneToOne
Eif2b5 35
  • 87.43 (n)
  • 89.64 (a)
oppossum
(Monodelphis domestica)
Mammalia EIF2B5 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EIF2B5 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eif2b5 35
  • 87.13 (n)
  • 89.79 (a)
chicken
(Gallus gallus)
Aves EIF2B5 35
  • 72.65 (n)
  • 74.93 (a)
EIF2B5 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EIF2B5 36
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8238 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.15685 35
eif2b5 35
  • 65.92 (n)
  • 67.31 (a)
zebrafish
(Danio rerio)
Actinopterygii EIF2B5 (2 of 2) 36
  • 54 (a)
OneToMany
eif2b5 36
  • 64 (a)
OneToMany
wufd14g07 35
eif2b5 35
  • 64.84 (n)
  • 63.76 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000082 35
  • 49.04 (n)
  • 37.41 (a)
fruit fly
(Drosophila melanogaster)
Insecta eIF2B-epsilon 36
  • 31 (a)
OneToOne
eIF2B-epsilon 35
  • 48.47 (n)
  • 35.91 (a)
eIF2B-egr 37
  • 31 (a)
worm
(Caenorhabditis elegans)
Secernentea D2085.3 36
  • 25 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL094W 35
  • 46.43 (n)
  • 35.27 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCD6 38
GCD6 36
  • 28 (a)
OneToOne
GCD6 35
  • 42.31 (n)
  • 30.31 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A04235g 35
  • 44.39 (n)
  • 32.41 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G34970 35
  • 45.47 (n)
  • 34.45 (a)
rice
(Oryza sativa)
Liliopsida Os02g0812400 35
  • 46.97 (n)
  • 36.49 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02414 35
  • 47.11 (n)
  • 34.88 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tif225 35
  • 45.01 (n)
  • 34.1 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToOne
Species with no ortholog for EIF2B5:
  • 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)
  • 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 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 EIF2B5 Gene

ENSEMBL:
Gene Tree for EIF2B5 (if available)
TreeFam:
Gene Tree for EIF2B5 (if available)

Paralogs for EIF2B5 Gene

No data available for Paralogs for EIF2B5 Gene

Variants for EIF2B5 Gene

Sequence variations from dbSNP and Humsavar for EIF2B5 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_012291 Leukodystrophy with vanishing white matter (VWM)
rs113994049 Leukodystrophy with vanishing white matter (VWM) 184,137,637(+) GTGCC(A/G)CCCTA nc-transcript-variant, upstream-variant-2KB, reference, missense
VAR_012293 Leukodystrophy with vanishing white matter (VWM)
rs28937596 Leukodystrophy with vanishing white matter (VWM) 184,144,111(+) AGGCC(C/T)GGAGC nc-transcript-variant, reference, missense
VAR_012323 Leukodystrophy with vanishing white matter (VWM)

Structural Variations from Database of Genomic Variants (DGV) for EIF2B5 Gene

Variant ID Type Subtype PubMed ID
nsv829812 CNV Loss 17160897

Variation tolerance for EIF2B5 Gene

Residual Variation Intolerance Score: 12.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.30; 94.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EIF2B5 Gene

HapMap Linkage Disequilibrium report
EIF2B5
Human Gene Mutation Database (HGMD)
EIF2B5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EIF2B5 Gene

Disorders for EIF2B5 Gene

MalaCards: The human disease database

(15) MalaCards diseases for EIF2B5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

EI2BE_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:12325082, ECO:0000269 PubMed:12707859, ECO:0000269 PubMed:15776425, 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 EIF2B5

Genetic Association Database (GAD)
EIF2B5
Human Genome Epidemiology (HuGE) Navigator
EIF2B5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EIF2B5
genes like me logo Genes that share disorders with EIF2B5: view

No data available for Genatlas for EIF2B5 Gene

Publications for EIF2B5 Gene

  1. Cloning and characterization of cDNAs encoding the epsilon-subunit of eukaryotic initiation factor-2B from rabbit and human. (PMID: 8688466) Asuru A.I. … Matts R.L. (Biochim. Biophys. Acta 1996) 2 3 4 67
  2. Genetic and clinical heterogeneity in eIF2B-related disorder. (PMID: 18263758) Maletkovic J. … Vanderver A. (J. Child Neurol. 2008) 3 23
  3. Arg113His mutation of vanishing white matter is not present in multiple sclerosis. (PMID: 17439913) Lucas M. … Izquierdo G. (Mult. Scler. 2007) 3 23
  4. EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophy. (PMID: 15723074) Dietrich J. … PrAPschel C. (Nat. Med. 2005) 3 23
  5. Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients. (PMID: 16041584) Kantor L. … Elroy-Stein O. (Hum. Genet. 2005) 3 23

Products for EIF2B5 Gene

Sources for EIF2B5 Gene

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