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Aliases for EIF2B3 Gene

Aliases for EIF2B3 Gene

  • Eukaryotic Translation Initiation Factor 2B Subunit Gamma 2 3 5
  • 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

Previous GeneCards Identifiers for EIF2B3 Gene

  • GC01M045043
  • GC01M044316
  • GC01M044746
  • GC01M044729
  • GC01M044985
  • GC01M045089
  • GC01M045316
  • GC01M043428

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 Gamma) is a Protein Coding gene. Diseases associated with EIF2B3 include Leukoencephalopathy With Vanishing White Matter and Leukodystrophy. Among its related pathways are Translation Factors and Regulation of lipid metabolism Insulin signaling-generic cascades. Gene Ontology (GO) annotations related to this gene include guanyl-nucleotide exchange factor activity and nucleotidyltransferase activity.

UniProtKB/Swiss-Prot for EIF2B3 Gene

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

Gene Wiki entry for EIF2B3 Gene

Additional gene information for EIF2B3 Gene

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

Genomics for EIF2B3 Gene

GeneHancer (GH) Regulatory Elements for EIF2B3 Gene

Promoters and enhancers for EIF2B3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J044985 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +0.3 337 2 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 EIF2B3 TOE1 GPBP1L1 RPS8 HECTD3 MUTYH RPL7AP16 RPS15AP10 TMA16P2 DMAP1
GH01J044946 Enhancer 1 Ensembl ENCODE 11.4 +39.4 39425 2.3 FOXA2 ARNT MZF1 ZNF2 RARA ZNF335 RUNX3 CEBPB ZNF398 ZNF843 UROD EIF2B3 PPIAP35 BEST4 RNA5SP47 CCNB1IP1P1
GH01J045039 Enhancer 0.9 ENCODE 10.2 -52.5 -52462 0.2 PKNOX1 ATF1 ARNT NCOA2 TCF12 ZNF766 GATA2 ATF7 NCOA1 REST DMAP1 EIF2B3 PPIAP35 ZSWIM5 BEST4 GC01M045023 OSTCP5
GH01J044924 Enhancer 0.8 Ensembl ENCODE 11 +61.0 61001 3.1 MEIS2 CTCF PKNOX1 SAP130 JUN ERF RAD21 FOSL1 JUND EGR1 BTBD19 UROD EIF2B3 PPIAP35 BEST4 ENSG00000226499 PTCH2 TCTEX1D4 PLK3 RNA5SP47
GH01J045018 Enhancer 0.7 ENCODE 10.8 -32.1 -32082 0.1 CTCF ARID4B SIN3A ZNF2 E4F1 ZNF48 RAD21 TEAD3 CTBP1 ZNF143 EIF2B3 PPIAP35 GC01P045019 GC01M045023 ZSWIM5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EIF2B3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EIF2B3 gene promoter:
  • FOXD3
  • p53
  • Tal-1beta
  • E47
  • Pax-2a
  • Pax-2
  • ZIC2
  • POU2F1
  • CP2
  • POU2F1a

Genomic Locations for EIF2B3 Gene

Genomic Locations for EIF2B3 Gene
chr1:44,850,522-44,986,722
(GRCh38/hg38)
Size:
136,201 bases
Orientation:
Minus strand
chr1:45,316,194-45,452,361
(GRCh37/hg19)
Size:
136,168 bases
Orientation:
Minus strand

Genomic View for EIF2B3 Gene

Genes around EIF2B3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EIF2B3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EIF2B3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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.

    Three dimensional structures from OCA and Proteopedia for EIF2B3 Gene

    Alternative splice isoforms for EIF2B3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EIF2B3 Gene

Post-translational modifications for EIF2B3 Gene

  • Ubiquitination at Lys259
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EIF2B3 Gene

Domains & Families for EIF2B3 Gene

Gene Families for EIF2B3 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for EIF2B3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NR50

UniProtKB/Swiss-Prot:

EI2BG_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 EIF2B3: view

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

Human Phenotype Ontology for EIF2B3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EIF2B3 Gene

MGI Knock Outs for EIF2B3:
  • Eif2b3 Eif2b3<tm1b(EUCOMM)Hmgu>

Animal Model Products

miRNA for EIF2B3 Gene

miRTarBase miRNAs that target EIF2B3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for EIF2B3 Gene

Localization for EIF2B3 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 EIF2B3 gene
Compartment Confidence
cytosol 5
plasma membrane 2
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Vesicles (3)
See all subcellular structures

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot for EIF2B3 Gene

Pathways & Interactions for EIF2B3 Gene

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

Pathways by source for EIF2B3 Gene

SIGNOR curated interactions for EIF2B3 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for EIF2B3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006413 translational initiation IDA,IEA 10900014
GO:0009058 biosynthetic process IEA --
GO:0009408 response to heat TAS 12499492
GO:0009749 response to glucose ISS --
genes like me logo Genes that share ontologies with EIF2B3: view

Drugs & Compounds for EIF2B3 Gene

(1) Drugs for EIF2B3 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 EIF2B3: view

Transcripts for EIF2B3 Gene

Unigene Clusters for EIF2B3 Gene

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

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for EIF2B3 Gene

Protein differential expression in normal tissues from HIPED for EIF2B3 Gene

This gene is overexpressed in Pancreas (10.4), Breast (7.8), and Peripheral blood mononuclear cells (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EIF2B3 Gene



Protein tissue co-expression partners for EIF2B3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EIF2B3 Gene:

EIF2B3

SOURCE GeneReport for Unigene cluster for EIF2B3 Gene:

Hs.533549

Evidence on tissue expression from TISSUES for EIF2B3 Gene

  • Liver(4.2)
  • Lymph node(4.2)
  • Blood(4.1)
  • Nervous system(3.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EIF2B3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
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 EIF2B3: view

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 EIF2B3 Gene

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 34 33
  • 99.71 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EIF2B3 34 33
  • 91.06 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EIF2B3 34 33
  • 90.86 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Eif2b3 16 34 33
  • 88.94 (n)
rat
(Rattus norvegicus)
Mammalia Eif2b3 33
  • 88.2 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 84 (a)
OneToMany
-- 34
  • 68 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia EIF2B3 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves EIF2B3 34 33
  • 69.73 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EIF2B3 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eif2b3 33
  • 64.6 (n)
Str.2507 33
African clawed frog
(Xenopus laevis)
Amphibia eif2b3-prov 33
zebrafish
(Danio rerio)
Actinopterygii eif2b3 34 33
  • 65.25 (n)
OneToOne
zgc56473 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5237 33
fruit fly
(Drosophila melanogaster)
Insecta eIF2B-gamma 34 33
  • 48.42 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005210 33
  • 46.5 (n)
worm
(Caenorhabditis elegans)
Secernentea ppp-1 34 33
  • 43.45 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCD1 36 34
  • 19 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G19485 33
  • 45.12 (n)
rice
(Oryza sativa)
Liliopsida Os06g0338900 33
  • 44.68 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tif223 33
  • 46.82 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03548 33
  • 40.72 (n)
Species where no ortholog for EIF2B3 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for EIF2B3: view image

Paralogs for EIF2B3 Gene

(7) SIMAP similar genes for EIF2B3 Gene using alignment to 4 proteins:

  • EI2BG_HUMAN
  • H0Y580_HUMAN
  • Q5QP88_HUMAN
  • Q9HA31_HUMAN
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 Variation AA Info Type
rs112398574 uncertain-significance, Leukoencephalopathy with vanishing white matter 44,986,509(-) G/C 5_prime_UTR_variant
rs113994022 pathogenic, Leukoencephalopathy with vanishing white matter, Leukodystrophy with vanishing white matter (VWM) [MIM:603896] 44,978,349(-) G/A 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs113994024 pathogenic, Leukoencephalopathy with vanishing white matter, Leukodystrophy with vanishing white matter (VWM) [MIM:603896] 44,881,722(-) C/T coding_sequence_variant, missense_variant
rs11556200 conflicting-interpretations-of-pathogenicity, benign, not specified, Leukoencephalopathy with vanishing white matter 44,978,366(-) G/A 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs119474039 pathogenic, Leukoencephalopathy with vanishing white matter, Leukodystrophy with vanishing white matter (VWM) [MIM:603896] 44,875,634(-) A/G coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv2474011 CNV deletion 19546169
esv2630872 CNV deletion 19546169
esv2747774 CNV deletion 23290073
esv3561538 CNV deletion 23714750
nsv546146 CNV loss 21841781
nsv945915 CNV duplication 23825009

Variation tolerance for EIF2B3 Gene

Residual Variation Intolerance Score: 75% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.33; 26.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EIF2B3 Gene

Human Gene Mutation Database (HGMD)
EIF2B3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EIF2B3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EIF2B3 Gene

Disorders for EIF2B3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for EIF2B3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
leukoencephalopathy with vanishing white matter
  • cle
leukodystrophy
  • leukodystrophies
hepatitis c virus
  • hepatitis c virus, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

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.

Additional Disease Information for EIF2B3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EIF2B3: view

No data available for Genatlas for EIF2B3 Gene

Publications for EIF2B3 Gene

  1. Identification of eIF2Bgamma and eIF2gamma as cofactors of hepatitis C virus internal ribosome entry site-mediated translation using a functional genomics approach. (PMID: 10900014) Kruger M … Wong-Staal F (Proceedings of the National Academy of Sciences of the United States of America 2000) 2 3 4 58
  2. 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 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. No evidence that polymorphisms of the vanishing white matter disease genes are risk factors in multiple sclerosis. (PMID: 18632786) Pronk J … van der Knaap M (Multiple sclerosis (Houndmills, Basingstoke, England) 2008) 3 44 58
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58

Products for EIF2B3 Gene

Sources for EIF2B3 Gene

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