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Aliases for EIF2B1 Gene

Aliases for EIF2B1 Gene

  • Eukaryotic Translation Initiation Factor 2B Subunit Alpha 2 3 5
  • Eukaryotic Translation Initiation Factor 2B, Subunit 1 Alpha, 26kDa 2 3
  • EIF-2B GDP-GTP Exchange Factor Subunit Alpha 3 4
  • EIF2BA 3 4
  • Eukaryotic Translation Initiation Factor 2B, Subunit 1 (Alpha, 26kD) 2
  • Translation Initiation Factor EIF-2B Subunit Alpha 3
  • EIF2B 3

External Ids for EIF2B1 Gene

Previous HGNC Symbols for EIF2B1 Gene

  • EIF2B

Previous GeneCards Identifiers for EIF2B1 Gene

  • GC12M122707
  • GC12P123804
  • GC12M123829
  • GC12M122458
  • GC12M122630
  • GC12M124105
  • GC12M121066

Summaries for EIF2B1 Gene

Entrez Gene Summary for EIF2B1 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, Oct 2009]

GeneCards Summary for EIF2B1 Gene

EIF2B1 (Eukaryotic Translation Initiation Factor 2B Subunit Alpha) is a Protein Coding gene. Diseases associated with EIF2B1 include Leukoencephalopathy With Vanishing White Matter and Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter. Among its related pathways are Regulation of lipid metabolism Insulin signaling-generic cascades and Beta-Adrenergic Signaling. GO annotations related to this gene include GTP binding and translation initiation factor activity.

UniProtKB/Swiss-Prot for EIF2B1 Gene

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

Gene Wiki entry for EIF2B1 Gene

Additional gene information for EIF2B1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EIF2B1 Gene

Genomics for EIF2B1 Gene

Regulatory Elements for EIF2B1 Gene

Enhancers for EIF2B1 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
GH12H122919 1.2 ENCODE dbSUPER 153.1 +713.8 713770 1 ZNF493 ZFP64 ZEB1 ZNF155 ZNF121 ZNF138 ZNF354C FOS KLF7 ZNF202 EIF2B1 RSRC2 DDX55 ZCCHC8 ENSG00000235423 ATP6V0A2 LOC101927415 C12orf65 TCTN2 OGFOD2
GH12H124504 1.9 FANTOM5 Ensembl ENCODE dbSUPER 86.8 -882.8 -882828 24 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 EIF2B1 DDX55 NCOR2 TCTN2 LOC101927415 ATP6V0A2 ENSG00000270130 GTF2H3 ENSG00000270061 DHX37
GH12H123231 1.4 ENCODE dbSUPER 37 +400.3 400260 3 PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 RSRC2 ZCCHC8 DDX55 EIF2B1 KNTC1 CDK2AP1 LOC101927415 MPHOSPH9 OGFOD2 C12orf65
GH12H122978 1.3 Ensembl ENCODE 38.6 +650.2 650172 9 HNRNPUL1 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 EIF2B1 ZCCHC8 RSRC2 CDK2AP1 DDX55 KNTC1 MPHOSPH9 ATP6V0A2 ENSG00000239215 IL31
GH12H123362 1.4 ENCODE dbSUPER 32.6 +269.0 268953 3 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 DDX55 RSRC2 ZCCHC8 EIF2B1 CDK2AP1 LOC101927415 ENSG00000256092 ENSG00000239215 ENSG00000235423 ATP6V0A2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EIF2B1 on UCSC Golden Path with GeneCards custom track

Promoters for EIF2B1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000058767 76 1801 HDGF PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1

Genomic Location for EIF2B1 Gene

Chromosome:
12
Start:
123,620,406 bp from pter
End:
123,633,776 bp from pter
Size:
13,371 bases
Orientation:
Minus strand

Genomic View for EIF2B1 Gene

Genes around EIF2B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EIF2B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EIF2B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EIF2B1 Gene

Proteins for EIF2B1 Gene

  • Protein details for EIF2B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14232-EI2BA_HUMAN
    Recommended name:
    Translation initiation factor eIF-2B subunit alpha
    Protein Accession:
    Q14232
    Secondary Accessions:
    • A6NLY9
    • B4DGX0
    • Q3SXP4

    Protein attributes for EIF2B1 Gene

    Size:
    305 amino acids
    Molecular mass:
    33712 Da
    Quaternary structure:
    • Complex of five different subunits; alpha, beta, gamma, delta and epsilon.

    Three dimensional structures from OCA and Proteopedia for EIF2B1 Gene

    Alternative splice isoforms for EIF2B1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EIF2B1 Gene

Post-translational modifications for EIF2B1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EIF2B1 Gene

No data available for DME Specific Peptides for EIF2B1 Gene

Domains & Families for EIF2B1 Gene

Gene Families for EIF2B1 Gene

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

Protein Domains for EIF2B1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q14232

UniProtKB/Swiss-Prot:

EI2BA_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 EIF2B1: view

Function for EIF2B1 Gene

Molecular function for EIF2B1 Gene

GENATLAS Biochemistry:
eukariotic translation initiation factor 2B,subunit 1 (alpha,26kDa)
UniProtKB/Swiss-Prot Function:
Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.

Phenotypes From GWAS Catalog for EIF2B1 Gene

Gene Ontology (GO) - Molecular Function for EIF2B1 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 IDA 11323413
GO:0005515 protein binding IPI 9235896
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with EIF2B1: view
genes like me logo Genes that share phenotypes with EIF2B1: view

Human Phenotype Ontology for EIF2B1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for EIF2B1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for EIF2B1 Gene

Localization for EIF2B1 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 EIF2B1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EIF2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 9235896
GO:0005829 cytosol TAS --
GO:0005851 eukaryotic translation initiation factor 2B complex IDA 11323413
GO:0005886 plasma membrane IDA 9235896
GO:0016020 membrane IDA 9235896
genes like me logo Genes that share ontologies with EIF2B1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for EIF2B1 Gene

Pathways & Interactions for EIF2B1 Gene

genes like me logo Genes that share pathways with EIF2B1: view

Pathways by source for EIF2B1 Gene

SIGNOR curated interactions for EIF2B1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for EIF2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006413 translational initiation IEA,IDA 16289705
GO:0009408 response to heat TAS 12499492
GO:0009749 response to glucose ISS --
GO:0014003 oligodendrocyte development IMP 15217090
genes like me logo Genes that share ontologies with EIF2B1: view

Drugs & Compounds for EIF2B1 Gene

(1) Drugs for EIF2B1 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 EIF2B1: view

Transcripts for EIF2B1 Gene

Unigene Clusters for EIF2B1 Gene

Eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for EIF2B1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for EIF2B1 Gene

No ASD Table

Relevant External Links for EIF2B1 Gene

GeneLoc Exon Structure for
EIF2B1
ECgene alternative splicing isoforms for
EIF2B1

Expression for EIF2B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EIF2B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EIF2B1 Gene

This gene is overexpressed in Lymph node (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EIF2B1 Gene



Protein tissue co-expression partners for EIF2B1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EIF2B1 Gene:

EIF2B1

SOURCE GeneReport for Unigene cluster for EIF2B1 Gene:

Hs.741273

Evidence on tissue expression from TISSUES for EIF2B1 Gene

  • Nervous system(4.9)
  • Liver(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EIF2B1 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 EIF2B1: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for EIF2B1 Gene

Orthologs for EIF2B1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EIF2B1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EIF2B1 34 33
  • 99.34 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EIF2B1 34
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EIF2B1 33 34
  • 91.04 (n)
dog
(Canis familiaris)
Mammalia EIF2B1 33 34
  • 91.04 (n)
oppossum
(Monodelphis domestica)
Mammalia EIF2B1 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eif2b1 33 16 34
  • 87.43 (n)
rat
(Rattus norvegicus)
Mammalia Eif2b1 33
  • 86.67 (n)
chicken
(Gallus gallus)
Aves EIF2B1 33 34
  • 75.61 (n)
lizard
(Anolis carolinensis)
Reptilia EIF2B1 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eif2b1 33
  • 70.65 (n)
Str.10227 33
zebrafish
(Danio rerio)
Actinopterygii eif2b1 34 34
  • 77 (a)
OneToMany
LOC100151592 33
  • 71.74 (n)
fruit fly
(Drosophila melanogaster)
Insecta eIF2B-alpha 35 33 34
  • 55.97 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012799 33
  • 54.56 (n)
worm
(Caenorhabditis elegans)
Secernentea ZK1098.4 35 33 34
  • 49.94 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCN3 33 34
  • 49.38 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F13970g 33
  • 48.56 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR084C 33
  • 47.74 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G72340 33
  • 54.07 (n)
soybean
(Glycine max)
eudicotyledons Gma.6702 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.10349 33
rice
(Oryza sativa)
Liliopsida Os12g0497400 33
  • 53.57 (n)
Os.18456 33
corn
(Zea mays)
Liliopsida Zm.12770 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2507 34
  • 64 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC11E10.07c 33
  • 50.5 (n)
Species where no ortholog for EIF2B1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EIF2B1 Gene

ENSEMBL:
Gene Tree for EIF2B1 (if available)
TreeFam:
Gene Tree for EIF2B1 (if available)

Paralogs for EIF2B1 Gene

No data available for Paralogs for EIF2B1 Gene

Variants for EIF2B1 Gene

Sequence variations from dbSNP and Humsavar for EIF2B1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs113994007 Pathogenic, Leukodystrophy with vanishing white matter (VWM) [MIM:603896] 123,624,792(-) TTATT(A/T)ACAAG reference, missense
rs863225048 Pathogenic, Leukodystrophy with vanishing white matter (VWM) [MIM:603896] 123,626,429(-) CTGCT(G/T)TCGGG reference, missense
rs113994006 Pathogenic 123,630,396(-) ACTCC(A/G)TAAGT splice-donor-variant
rs758746181 Pathogenic 123,621,850(+) CAGTG(C/T)AGTCG reference, missense
rs863225049 Pathogenic 123,621,841(-) TGCCC(C/G)TTCCT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for EIF2B1 Gene

Variant ID Type Subtype PubMed ID
dgv1566n100 CNV gain 25217958
dgv309e214 CNV gain 21293372
dgv524e212 CNV loss 25503493
esv2759918 CNV gain 17122850
nsv1042181 CNV gain 25217958
nsv442292 CNV gain 18776908

Variation tolerance for EIF2B1 Gene

Residual Variation Intolerance Score: 40.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.84; 17.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EIF2B1 Gene

Human Gene Mutation Database (HGMD)
EIF2B1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EIF2B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EIF2B1 Gene

Disorders for EIF2B1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for EIF2B1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

EI2BA_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:15776425}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EIF2B1

Genetic Association Database (GAD)
EIF2B1
Human Genome Epidemiology (HuGE) Navigator
EIF2B1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EIF2B1
genes like me logo Genes that share disorders with EIF2B1: view

No data available for Genatlas for EIF2B1 Gene

Publications for EIF2B1 Gene

  1. Identification of ten novel mutations in patients with eIF2B-related disorders. (PMID: 15776425) Ohlenbusch A … Gärtner J (Human mutation 2005) 3 4 22 60
  2. 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 SD … DREAM investigators (Diabetes care 2010) 3 45 60
  3. 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 45 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. eIF2B-related disorders: antenatal onset and involvement of multiple organs. (PMID: 14566705) van der Knaap MS … Pronk JC (American journal of human genetics 2003) 3 22 60

Products for EIF2B1 Gene

Sources for EIF2B1 Gene

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