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] See more...

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
  • Translation Initiation Factor EIF-2B Subunit Alpha 3 4
  • EIF-2B GDP-GTP Exchange Factor Subunit Alpha 3 4
  • EIF2BA 3 4
  • Eukaryotic Translation Initiation Factor 2B, Subunit 1 (Alpha, 26kD) 2
  • 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 Translation Factors and Gene Expression. Gene Ontology (GO) annotations related to this gene include GTP binding and translation initiation factor activity. An important paralog of this gene is EIF2B4.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for EIF2B1 Gene

Genomics for EIF2B1 Gene

GeneHancer (GH) Regulatory Elements for EIF2B1 Gene

Promoters and enhancers for EIF2B1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EIF2B1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EIF2B1

Top Transcription factor binding sites by QIAGEN in the EIF2B1 gene promoter:
  • aMEF-2
  • AML1a
  • ATF6
  • Egr-4
  • HSF1 (long)
  • HSF1short
  • MEF-2
  • MEF-2A
  • Pax-4a
  • S8

Genomic Locations for EIF2B1 Gene

Genomic Locations for EIF2B1 Gene
chr12:123,620,406-123,633,776
(GRCh38/hg38)
Size:
13,371 bases
Orientation:
Minus strand
chr12:124,104,953-124,118,323
(GRCh37/hg19)
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

Blocks:
  • Initiation factor 2B
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EIF2B1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60506, highly similar to Translation initiation factor eIF-2B subunit alpha (B4DGX0_HUMAN)
  • eIF-2B GDP-GTP exchange factor subunit alpha (EI2BA_HUMAN)

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

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

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,IBA 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EIF2B1

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
lysosome 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,IBA 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

PathCards logo

SuperPathways for EIF2B1 Gene

SuperPathway Contained pathways
1 Viral mRNA Translation
2 NFAT and Cardiac Hypertrophy
.42
.37
3 Translation Factors
4 Regulation of lipid metabolism Insulin signaling-generic cascades
.59
.47
5 Herpes simplex virus 1 infection
genes like me logo Genes that share pathways with EIF2B1: view

Pathways by source for EIF2B1 Gene

2 GeneGo (Thomson Reuters) pathways for EIF2B1 Gene
  • Translation Regulation of EIF2 activity
  • Translation Insulin regulation of translation
5 Qiagen pathways for EIF2B1 Gene
  • eIF2 Pathway
  • GSK3 Signaling
  • IGF1R Signaling
  • Insulin Receptor Pathway
  • Signaling Involved in Cardiac Hypertrophy

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 IDA,IBA 16289705
GO:0006446 regulation of translational initiation IBA 21873635
GO:0009408 response to heat TAS 12499492
GO:0009749 response to glucose ISS --
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

mRNA/cDNA for EIF2B1 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EIF2B1

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

No ASD Table

Relevant External Links for EIF2B1 Gene

GeneLoc Exon Structure for
EIF2B1

Expression for EIF2B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for EIF2B1 Gene



Protein tissue co-expression partners for EIF2B1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
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 EIF2B1: view

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 31 30
  • 99.34 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EIF2B1 31
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EIF2B1 31 30
  • 91.04 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EIF2B1 31 30
  • 91.04 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EIF2B1 31
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eif2b1 17 31 30
  • 87.43 (n)
rat
(Rattus norvegicus)
Mammalia Eif2b1 30
  • 86.67 (n)
chicken
(Gallus gallus)
Aves EIF2B1 31 30
  • 75.61 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EIF2B1 31
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eif2b1 30
  • 70.65 (n)
Str.10227 30
zebrafish
(Danio rerio)
Actinopterygii eif2b1 31 31
  • 77 (a)
OneToMany
LOC100151592 30
  • 71.74 (n)
fruit fly
(Drosophila melanogaster)
Insecta eIF2B-alpha 31 32 30
  • 55.97 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012799 30
  • 54.56 (n)
worm
(Caenorhabditis elegans)
Secernentea ZK1098.4 31 32 30
  • 49.94 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCN3 31 30
  • 49.38 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F13970g 30
  • 48.56 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR084C 30
  • 47.74 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G72340 30
  • 54.07 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.10349 30
soybean
(Glycine max)
eudicotyledons Gma.6702 30
rice
(Oryza sativa)
Liliopsida Os12g0497400 30
  • 53.57 (n)
Os.18456 30
corn
(Zea mays)
Liliopsida Zm.12770 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2507 31
  • 64 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC11E10.07c 30
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for EIF2B1: view image

Paralogs for EIF2B1 Gene

Paralogs for EIF2B1 Gene

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

Variants for EIF2B1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EIF2B1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
715309 Likely Benign: not provided 123,624,805(-) G/A SYNONYMOUS_VARIANT
721731 Likely Benign: not provided 123,627,150(-) A/G SYNONYMOUS_VARIANT
732578 Likely Benign: not provided 123,621,783(-) G/A SYNONYMOUS_VARIANT
738220 Likely Benign: not provided 123,622,629(-) C/T INTRON_VARIANT
738949 Likely Benign: not provided 123,621,861(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for EIF2B1 Gene

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)

Additional Variant Information 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

(7) MalaCards diseases for EIF2B1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, 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.

Additional Disease Information for EIF2B1

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 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 23 54
  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 41 54
  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 41 54
  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 54
  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 23 54

Products for EIF2B1 Gene

Sources for EIF2B1 Gene