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Aliases for EIF2B4 Gene

Aliases for EIF2B4 Gene

  • Eukaryotic Translation Initiation Factor 2B, Subunit 4 Delta, 67kDa 2 3
  • EIF-2B GDP-GTP Exchange Factor Subunit Delta 3 4
  • Eukaryotic Translation Initiation Factor 2B, Subunit 4 (Delta, 67kD) 2
  • Eukaryotic Translation Initiation Factor 2B Subunit 4 Delta 3
  • Translation Initiation Factor EIF-2B Subunit Delta 3
  • Translation Initiation Factor EIF-2b Delta Subunit 3
  • EIF2Bdelta 3
  • EIF-2B 3
  • EIF2BD 4
  • EIF2B 3

External Ids for EIF2B4 Gene

Summaries for EIF2B4 Gene

Entrez Gene Summary for EIF2B4 Gene

  • Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for EIF2B4 Gene

EIF2B4 (Eukaryotic Translation Initiation Factor 2B, Subunit 4 Delta, 67kDa) is a Protein Coding gene. Diseases associated with EIF2B4 include eif2b4-related childhood ataxia with central nervous system hypomyelination/vanishing white matter and leukoencephalopathy with vanishing white matter. 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 initiation factor binding.

UniProtKB/Swiss-Prot for EIF2B4 Gene

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

Gene Wiki entry for EIF2B4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EIF2B4 Gene

Genomics for EIF2B4 Gene

Genomic Location for EIF2B4 Gene

Start:
27,364,352 bp from pter
End:
27,370,486 bp from pter
Size:
6,135 bases
Orientation:
Minus strand

Genomic View for EIF2B4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EIF2B4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EIF2B4 Gene

Regulatory Elements for EIF2B4 Gene

Proteins for EIF2B4 Gene

  • Protein details for EIF2B4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UI10-EI2BD_HUMAN
    Recommended name:
    Translation initiation factor eIF-2B subunit delta
    Protein Accession:
    Q9UI10
    Secondary Accessions:
    • Q53RY7
    • Q5BJF4
    • Q9BUV9
    • Q9UBG4
    • Q9UIQ9
    • Q9UJ95

    Protein attributes for EIF2B4 Gene

    Size:
    523 amino acids
    Molecular mass:
    57557 Da
    Quaternary structure:
    • Complex of five different subunits; alpha, beta, gamma, delta and epsilon
    SequenceCaution:
    • Sequence=CAB57305.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for EIF2B4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EIF2B4 Gene

Proteomics data for EIF2B4 Gene at MOPED

Post-translational modifications for EIF2B4 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys176, Lys282, and Lys466

No data available for DME Specific Peptides for EIF2B4 Gene

Domains for EIF2B4 Gene

Protein Domains for EIF2B4 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

EI2BD_HUMAN
Family:
  • Belongs to the eIF-2B alpha/beta/delta subunits family.:
    • Q9UI10
genes like me logo Genes that share domains with EIF2B4: view

No data available for Gene Families for EIF2B4 Gene

Function for EIF2B4 Gene

Molecular function for EIF2B4 Gene

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

Gene Ontology (GO) - Molecular Function for EIF2B4 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:0031369 translation initiation factor binding ISS --
GO:0046523 NOT S-methyl-5-thioribose-1-phosphate isomerase activity IBA --
genes like me logo Genes that share ontologies with EIF2B4: view

Phenotypes for EIF2B4 Gene

genes like me logo Genes that share phenotypes with EIF2B4: view

miRNA for EIF2B4 Gene

miRTarBase miRNAs that target EIF2B4

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for EIF2B4 Gene

Localization for EIF2B4 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EIF2B4 Gene COMPARTMENTS Subcellular localization image for EIF2B4 gene
Compartment Confidence
cytosol 4
mitochondrion 3
nucleus 2
peroxisome 2

Gene Ontology (GO) - Cellular Components for EIF2B4 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 EIF2B4: view

Pathways for EIF2B4 Gene

genes like me logo Genes that share pathways with EIF2B4: view

Pathways by source for EIF2B4 Gene

2 GeneGo (Thomson Reuters Life Sciences Research) pathways for EIF2B4 Gene
1 BioSystems pathway for EIF2B4 Gene

Gene Ontology (GO) - Biological Process for EIF2B4 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:0006417 regulation of translation NAS 12556349
GO:0006446 regulation of translational initiation IBA --
genes like me logo Genes that share ontologies with EIF2B4: view

Compounds for EIF2B4 Gene

(1) HMDB Compounds for EIF2B4 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1
genes like me logo Genes that share compounds with EIF2B4: view

Transcripts for EIF2B4 Gene

Unigene Clusters for EIF2B4 Gene

Eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EIF2B4 Gene

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

ExUns: 12 ^ 13 ^ 14a · 14b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12:

Relevant External Links for EIF2B4 Gene

GeneLoc Exon Structure for
EIF2B4
ECgene alternative splicing isoforms for
EIF2B4

Expression for EIF2B4 Gene

mRNA expression in normal human tissues for EIF2B4 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for EIF2B4 Gene

SOURCE GeneReport for Unigene cluster for EIF2B4 Gene Hs.169474

genes like me logo Genes that share expressions with EIF2B4: view

Orthologs for EIF2B4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EIF2B4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EIF2B4 36
  • 99.43 (n)
  • 99.43 (a)
EIF2B4 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EIF2B4 36
  • 90.69 (n)
  • 91.2 (a)
EIF2B4 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EIF2B4 36
  • 90.63 (n)
  • 91.78 (a)
EIF2B4 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eif2b4 36
  • 87.16 (n)
  • 87.93 (a)
Eif2b4 16
Eif2b4 37
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EIF2B4 37
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EIF2B4 37
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eif2b4 36
  • 87.42 (n)
  • 87.74 (a)
chicken
(Gallus gallus)
Aves EIF2B4 36
  • 65.74 (n)
  • 68.86 (a)
EIF2B4 37
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EIF2B4 37
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eif2b4 36
  • 67.36 (n)
  • 69.14 (a)
zebrafish
(Danio rerio)
Actinopterygii eif2b4 36
  • 64.03 (n)
  • 65.52 (a)
eif2b4 37
  • 59 (a)
OneToOne
wufb54a09 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005937 36
  • 52.66 (n)
  • 48.16 (a)
fruit fly
(Drosophila melanogaster)
Insecta eIF2B-delta 37
  • 34 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F11A3.2 37
  • 21 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCD2 37
  • 25 (a)
OneToOne
GCD2 39
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G38640 36
  • 50.89 (n)
  • 47.33 (a)
rice
(Oryza sativa)
Liliopsida Os.23453 36
Os12g0617100 36
  • 50.85 (n)
  • 45.5 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4176 37
  • 50 (a)
OneToOne
Species with no ortholog for EIF2B4:
  • A. gosspyii yeast (Ashbya gossypii)
  • 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)
  • 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 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 EIF2B4 Gene

ENSEMBL:
Gene Tree for EIF2B4 (if available)
TreeFam:
Gene Tree for EIF2B4 (if available)

Paralogs for EIF2B4 Gene

Selected SIMAP similar genes for EIF2B4 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with EIF2B4: view

No data available for Paralogs for EIF2B4 Gene

Variants for EIF2B4 Gene

Sequence variations from dbSNP and Humsavar for EIF2B4 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs1058065 Benign 27,364,857(-) GCCAA(C/T)GGGTC reference, synonymous-codon
rs1058075 -- 27,364,513(-) TGAAT(C/T)TAGTC reference, synonymous-codon
rs1058076 -- 27,364,508(-) CTAGT(C/T)TATGA reference, synonymous-codon
rs1058077 -- 27,364,477(-) TGGAT(C/T)TGGTG reference, synonymous-codon
rs2280737 Benign 27,366,943(+) TAGAG(C/T)GAATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EIF2B4 Gene

Variant ID Type Subtype PubMed ID
nsv873754 CNV Loss 21882294
nsv833614 CNV Gain 17160897
dgv4072n71 CNV Loss 21882294
nsv873757 CNV Loss 21882294

Relevant External Links for EIF2B4 Gene

HapMap Linkage Disequilibrium report
EIF2B4
Human Gene Mutation Database (HGMD)
EIF2B4

Disorders for EIF2B4 Gene

(1) OMIM Diseases for EIF2B4 Gene (606687)

UniProtKB/Swiss-Prot

EI2BD_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:12707859, ECO:0000269 PubMed:15776425}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for EIF2B4 Gene

Relevant External Links for EIF2B4

GeneTests
EIF2B4
GeneReviews
EIF2B4
Genetic Association Database (GAD)
EIF2B4
Human Genome Epidemiology (HuGE) Navigator
EIF2B4
genes like me logo Genes that share disorders with EIF2B4: view

Publications for EIF2B4 Gene

  1. Identification of ten novel mutations in patients with eIF2B-related disorders. (PMID: 15776425) Ohlenbusch A. … Gartner J. (Hum. Mutat. 2005) 4 23
  2. The delta-subunit of murine guanine nucleotide exchange factor eIF-2B. Characterization of cDNAs predicts isoforms differing at the amino-terminal end. (PMID: 7982969) Henderson R.A. … Dholakia J.N. (J. Biol. Chem. 1994) 2 3
  3. eIF2B, the guanine nucleotide-exchange factor for eukaryotic initiation factor 2. Sequence conservation between the alpha, beta and delta subunits of eIF2B from mammals and yeast. (PMID: 8929216) Price N.T. … Proud C.G. (Biochem. J. 1996) 2 3
  4. 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
  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 EIF2B4 Gene

Sources for EIF2B4 Gene

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