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Aliases for EIF2B4 Gene

Aliases for EIF2B4 Gene

  • Eukaryotic Translation Initiation Factor 2B Subunit Delta 2 3 5
  • 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 Delta Subunit 3
  • EIF2Bdelta 3
  • EIF-2B 3
  • EIF2BD 4
  • EIF2B 3

External Ids for EIF2B4 Gene

Previous GeneCards Identifiers for EIF2B4 Gene

  • GC00U990453
  • GC02M027679
  • GC02M027544
  • GC02M027562
  • GC02M027563
  • GC02M027498
  • GC02M027440
  • GC02M027587

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 Delta) is a Protein Coding gene. Diseases associated with EIF2B4 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 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

Regulatory Elements for EIF2B4 Gene

Promoters for EIF2B4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EIF2B4 on UCSC Golden Path with GeneCards custom track

Genomic Location for EIF2B4 Gene

Chromosome:
2
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

Genes around EIF2B4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EIF2B4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EIF2B4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Ubiquitination at Lys 176, Lys 282, and Lys 466
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EIF2B4 Gene

Domains & Families for EIF2B4 Gene

Protein Domains for EIF2B4 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for EIF2B4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UI10

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for EIF2B4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EIF2B4 Gene

MGI Knock Outs for EIF2B4:

Animal Model Products

  • Taconic Biosciences Mouse Models for EIF2B4

miRNA for EIF2B4 Gene

miRTarBase miRNAs that target EIF2B4

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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 5
mitochondrion 3
nucleus 3
cytoskeleton 2
peroxisome 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for EIF2B4 Gene

Pathways & Interactions for EIF2B4 Gene

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

Pathways by source for EIF2B4 Gene

SIGNOR curated interactions for EIF2B4 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for EIF2B4 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 NAS 12556349
GO:0009408 response to heat TAS 12499492
GO:0009749 response to glucose ISS --
genes like me logo Genes that share ontologies with EIF2B4: view

Drugs & Compounds for EIF2B4 Gene

(1) Drugs for EIF2B4 Gene - From: HMDB

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

Protein differential expression in normal tissues from HIPED for EIF2B4 Gene

This gene is overexpressed in Breast (24.5) and Peripheral blood mononuclear cells (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with EIF2B4: view

Protein tissue co-expression partners for EIF2B4 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 EIF2B4 Gene

Orthologs for EIF2B4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EIF2B4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EIF2B4 35
  • 90.69 (n)
  • 91.2 (a)
EIF2B4 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EIF2B4 35
  • 90.63 (n)
  • 91.78 (a)
EIF2B4 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eif2b4 35
  • 87.16 (n)
  • 87.93 (a)
Eif2b4 16
Eif2b4 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EIF2B4 35
  • 99.43 (n)
  • 99.43 (a)
EIF2B4 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eif2b4 35
  • 87.42 (n)
  • 87.74 (a)
oppossum
(Monodelphis domestica)
Mammalia EIF2B4 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EIF2B4 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves EIF2B4 35
  • 65.74 (n)
  • 68.86 (a)
EIF2B4 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EIF2B4 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eif2b4 35
  • 67.36 (n)
  • 69.14 (a)
zebrafish
(Danio rerio)
Actinopterygii eif2b4 35
  • 64.03 (n)
  • 65.52 (a)
wufb54a09 35
eif2b4 36
  • 59 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005937 35
  • 52.66 (n)
  • 48.16 (a)
fruit fly
(Drosophila melanogaster)
Insecta eIF2B-delta 36
  • 34 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F11A3.2 36
  • 21 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCD2 36
  • 25 (a)
OneToOne
GCD2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G38640 35
  • 50.89 (n)
  • 47.33 (a)
rice
(Oryza sativa)
Liliopsida Os.23453 35
Os12g0617100 35
  • 50.85 (n)
  • 45.5 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4176 36
  • 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

(1) 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
VAR_015405 Leukodystrophy with vanishing white matter (VWM)
VAR_015406 -
VAR_015407 Leukodystrophy with vanishing white matter (VWM)
VAR_015408 Leukodystrophy with vanishing white matter (VWM)
VAR_016843 Leukodystrophy with vanishing white matter (VWM)

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

Variation tolerance for EIF2B4 Gene

Residual Variation Intolerance Score: 27.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.55; 29.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EIF2B4 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EIF2B4 Gene

Disorders for EIF2B4 Gene

MalaCards: The human disease database

(10) MalaCards diseases for EIF2B4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

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.

Relevant External Links for EIF2B4

Genetic Association Database (GAD)
EIF2B4
Human Genome Epidemiology (HuGE) Navigator
EIF2B4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EIF2B4
genes like me logo Genes that share disorders with EIF2B4: view

No data available for Genatlas for EIF2B4 Gene

Publications for EIF2B4 Gene

  1. Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes. (PMID: 20532202) Naukkarinen J. … Peltonen L. (PLoS Genet. 2010) 3 48 67
  2. 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
  3. 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
  4. DAP5 associates with eIF2I^ and eIF4AI to promote Internal Ribosome Entry Site driven translation. (PMID: 25779044) Liberman N. … Sonenberg N. (Nucleic Acids Res. 2015) 3
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

Products for EIF2B4 Gene

Sources for EIF2B4 Gene

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