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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
  • Translation Initiation Factor EIF-2B Subunit Epsilon 3
  • 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 Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter. Among its related pathways are Viral mRNA Translation and Regulation of lipid metabolism Insulin signaling-generic cascades. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EIF2B5 Gene

Genomics for EIF2B5 Gene

Regulatory Elements for EIF2B5 Gene

Enhancers for EIF2B5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G183305 1.8 FANTOM5 Ensembl ENCODE dbSUPER 13.6 -826.8 -826812 5.1 PKNOX1 FOXA2 ATF1 MLX FEZF1 YY1 TCF12 ZNF766 REST ZNF592 B3GNT5 KLHL6 EIF2B5 RNA5SP151 LAMP3 MCF2L2 KLHL24 GC03M183259
GH03G184764 1.4 Ensembl ENCODE dbSUPER 14.7 +631.3 631344 2.9 HDGF PKNOX1 ATF1 ARNT GTF3C2 SMARCA4 PBX2 KDM1A CTCF KLF1 POLR2H EIF2B5 RPS3P3 ALG3 LINC01840 MAGEF1 EPHB3 PIR43404 LINC02069
GH03G184171 1.6 Ensembl ENCODE dbSUPER 11.3 +40.7 40727 8.0 HDGF CREB3L1 AGO1 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 FOS VWA5B2 ABCF3 EIF2B5 DVL3 ALG3 ECE2 MIR1224 CAMK2N2 AP2M1
GH03G184154 1.3 ENCODE dbSUPER 12.3 +22.0 21962 4.2 HDGF ARID4B SIN3A DMAP1 SLC30A9 ZNF143 KLF13 SP3 SP5 MXD4 EIF2B5 ALG3 ECE2 ABCF3 CAMK2N2 PSMD2 VWA5B2 MIR1224 EIF4G1 SNORD66
GH03G183979 1.1 ENCODE 14.3 -153.1 -153054 3.3 CREB3L1 AGO1 SIN3A DMAP1 ZBTB7B ZNF766 ZNF207 SP3 SP5 MXD4 ABCC5 RPS3P3 EIF2B5 POLR2H ALG3 ABCC5-AS1 PIR62380
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EIF2B5 on UCSC Golden Path with GeneCards custom track

Promoters for EIF2B5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000162882 665 2601 CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 TBX21 ZNF610 GLIS1

Genomic Location for EIF2B5 Gene

Chromosome:
3
Start:
184,134,435 bp from pter
End:
184,145,311 bp from pter
Size:
10,877 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

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 isoforms=61, Lys103, isoforms=141, isoforms=217, isoforms=420, isoforms=481, and isoforms=493
  • Modification sites at PhosphoSitePlus

Other Protein References for EIF2B5 Gene

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 :
  • Belongs to the eIF-2B gamma/epsilon subunits family.
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.

Gene Ontology (GO) - Molecular Function for EIF2B5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003743 translation initiation factor activity NAS 8688466
GO:0005085 guanyl-nucleotide exchange factor activity ISS,IEA --
GO:0005515 protein binding IPI 10481074
GO:0031369 translation initiation factor binding ISS,IEA --
genes like me logo Genes that share ontologies with EIF2B5: view
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

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for EIF2B5 Gene

Localization for EIF2B5 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EIF2B5 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for EIF2B5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
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 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:0001541 ovarian follicle development IMP 15507143
GO:0006412 translation IEA --
GO:0006413 translational initiation IDA,IEA 16289705
GO:0007568 aging IEA --
GO:0009408 response to heat IEA,TAS 12499492
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for EIF2B5 Gene



Protein tissue co-expression partners for EIF2B5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EIF2B5 Gene:

EIF2B5

SOURCE GeneReport for Unigene cluster for EIF2B5 Gene:

Hs.283551

Evidence on tissue expression from TISSUES for EIF2B5 Gene

  • Nervous system(4.9)
  • Lung(4.4)
  • Liver(4.2)
  • Blood(4.1)
  • Skin(2.7)
  • Muscle(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EIF2B5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
  • pituitary gland
  • skull
Thorax:
  • breast
Abdomen:
  • adrenal gland
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • lower limb
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with EIF2B5: view

Primer 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 34 35
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia EIF2B5 34 35
  • 91.62 (n)
cow
(Bos Taurus)
Mammalia EIF2B5 34 35
  • 90.39 (n)
mouse
(Mus musculus)
Mammalia Eif2b5 34 16 35
  • 87.43 (n)
rat
(Rattus norvegicus)
Mammalia Eif2b5 34
  • 87.13 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EIF2B5 35
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EIF2B5 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves EIF2B5 34 35
  • 72.65 (n)
lizard
(Anolis carolinensis)
Reptilia EIF2B5 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eif2b5 34
  • 65.92 (n)
Str.15685 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.8238 34
zebrafish
(Danio rerio)
Actinopterygii eif2b5 34 35
  • 64.84 (n)
EIF2B5 (2 of 2) 35
  • 54 (a)
OneToMany
wufd14g07 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000082 34
  • 49.04 (n)
fruit fly
(Drosophila melanogaster)
Insecta eIF2B-epsilon 34 35
  • 48.47 (n)
eIF2B-egr 36
  • 31 (a)
worm
(Caenorhabditis elegans)
Secernentea D2085.3 35
  • 25 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL094W 34
  • 46.43 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A04235g 34
  • 44.39 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCD6 34 35 37
  • 42.31 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G34970 34
  • 45.47 (n)
rice
(Oryza sativa)
Liliopsida Os02g0812400 34
  • 46.97 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02414 34
  • 47.11 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tif225 34
  • 45.01 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToOne
Species where no ortholog for EIF2B5 was found in the sources mined by GeneCards:
  • 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
rs113994044 Leukodystrophy with vanishing white matter (VWM) [MIM:603896] 184,136,619(+) CCTCT(C/T)GCCCC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs113994045 Leukodystrophy with vanishing white matter (VWM) [MIM:603896] 184,136,634(+) CAATG(G/T)GGCAT nc-transcript-variant, upstream-variant-2KB, reference, missense
rs113994046 Leukodystrophy with vanishing white matter (VWM) [MIM:603896] 184,136,636(+) ATGTG(A/G)CATTA nc-transcript-variant, upstream-variant-2KB, reference, missense
rs113994048 Pathogenic, Leukodystrophy with vanishing white matter (VWM) [MIM:603896] 184,136,734(+) CATTT(A/T)CTGTA nc-transcript-variant, reference, missense, utr-variant-5-prime
rs113994049 Pathogenic, Leukodystrophy with vanishing white matter (VWM) [MIM:603896] 184,137,637(+) GTGCC(A/G)CCCTA nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime

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

Human Gene Mutation Database (HGMD)
EIF2B5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EIF2B5

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

Disorders for EIF2B5 Gene

MalaCards: The human disease database

(6) 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. Arg113His mutation of vanishing white matter is not present in multiple sclerosis. (PMID: 17439913) Lucas M. … Izquierdo G. (Mult. Scler. 2007) 3 22 46 64
  2. 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 64
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C. … Hunter D.J. (Hum. Genet. 2010) 3 46 64
  5. Genotype-phenotype correlation in vanishing white matter disease. (PMID: 20975056) van der Lei H.D. … van der Knaap M.S. (Neurology 2010) 3 46 64

Products for EIF2B5 Gene

Sources for EIF2B5 Gene

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