Free for academic non-profit institutions. Other users need a Commercial license

Aliases for EIF2B2 Gene

Aliases for EIF2B2 Gene

  • Eukaryotic Translation Initiation Factor 2B Subunit Beta 2 3 5
  • Eukaryotic Translation Initiation Factor 2B, Subunit 2 Beta, 39kDa 2 3
  • EIF-2B GDP-GTP Exchange Factor Subunit Beta 3 4
  • S20III15 3 4
  • S20I15 3 4
  • Eukaryotic Translation Initiation Factor 2B, Subunit 2 (Beta, 39kD) 2
  • Translation Initiation Factor EIF-2B Subunit Beta 3
  • EIF-2Bbeta 3
  • EIF2BB 4
  • EIF2B 3

External Ids for EIF2B2 Gene

Previous GeneCards Identifiers for EIF2B2 Gene

  • GC14P072996
  • GC14P069286
  • GC14P073459
  • GC14P074539
  • GC14P075469
  • GC14P055637

Summaries for EIF2B2 Gene

Entrez Gene Summary for EIF2B2 Gene

  • This gene encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B). EIF2B is involved in protein synthesis and exchanges GDP and GTP for its activation and deactivation. [provided by RefSeq, Aug 2011]

GeneCards Summary for EIF2B2 Gene

EIF2B2 (Eukaryotic Translation Initiation Factor 2B Subunit Beta) is a Protein Coding gene. Diseases associated with EIF2B2 include Leukoencephalopathy With Vanishing White Matter and Premature Ovarian Failure 1. 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 GTP binding and translation initiation factor activity.

UniProtKB/Swiss-Prot for EIF2B2 Gene

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

Gene Wiki entry for EIF2B2 Gene

Additional gene information for EIF2B2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EIF2B2 Gene

Genomics for EIF2B2 Gene

GeneHancer (GH) Regulatory Elements for EIF2B2 Gene

Promoters and enhancers for EIF2B2 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
GH14J075001 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 675.8 +0.1 145 2.5 HDGF PKNOX1 ARID4B SIN3A FEZF1 YY1 POLR2B E2F8 ZNF207 ZNF143 EIF2B2 ABCD4 MLH3 ENSG00000258559 ACYP1 ENSG00000258646
GH14J074977 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 35.6 -21.3 -21293 8.3 FOXA2 RAD21 RFX5 RCOR1 FOS EGR2 REST NR2F2 SP1 GLIS1 EIF2B2 ACYP1 PGF MLH3 ZC2HC1C RPS6KL1 PROX2 RNU6-689P DLST GC14P074952
GH14J075062 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 26.4 +61.0 61016 2.1 PKNOX1 ATF1 ARID4B SIN3A DMAP1 ZNF48 POLR2B GLIS2 ELK1 ZNF143 MLH3 ACYP1 ZC2HC1C EIF2B2 NEK9 FCF1 YLPM1 PGF GC14M075064
GH14J075067 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 20.5 +66.7 66714 4.7 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 YBX1 YY1 ZC2HC1C ACYP1 GC14M075064 EIF2B2 NEK9 RNU6-689P GC14P075088
GH14J075125 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 17.6 +124.1 124050 3.5 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ENSG00000259138 NEK9 EIF2B2 ZC2HC1C ABCD4 TTLL5 MLH3 ENSG00000258559 ACYP1 HIF1AP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EIF2B2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EIF2B2 gene promoter:

Genomic Locations for EIF2B2 Gene

Genomic Locations for EIF2B2 Gene
chr14:75,002,909-75,012,366
(GRCh38/hg38)
Size:
9,458 bases
Orientation:
Plus strand
chr14:75,469,612-75,476,294
(GRCh37/hg19)

Genomic View for EIF2B2 Gene

Genes around EIF2B2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EIF2B2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EIF2B2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EIF2B2 Gene

Proteins for EIF2B2 Gene

  • Protein details for EIF2B2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49770-EI2BB_HUMAN
    Recommended name:
    Translation initiation factor eIF-2B subunit beta
    Protein Accession:
    P49770
    Secondary Accessions:
    • O43201

    Protein attributes for EIF2B2 Gene

    Size:
    351 amino acids
    Molecular mass:
    38990 Da
    Quaternary structure:
    • Complex of five different subunits; alpha, beta, gamma, delta and epsilon.
    SequenceCaution:
    • Sequence=AAC42002.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EIF2B2 Gene

neXtProt entry for EIF2B2 Gene

Post-translational modifications for EIF2B2 Gene

  • Ubiquitination at Lys237
  • Modification sites at PhosphoSitePlus

Other Protein References for EIF2B2 Gene

No data available for DME Specific Peptides for EIF2B2 Gene

Domains & Families for EIF2B2 Gene

Gene Families for EIF2B2 Gene

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

Protein Domains for EIF2B2 Gene

Graphical View of Domain Structure for InterPro Entry

P49770

UniProtKB/Swiss-Prot:

EI2BB_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 EIF2B2: view

Function for EIF2B2 Gene

Molecular function for EIF2B2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.

Phenotypes From GWAS Catalog for EIF2B2 Gene

Gene Ontology (GO) - Molecular Function for EIF2B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003743 contributes_to translation initiation factor activity IDA,IEA 16289705
GO:0005085 contributes_to guanyl-nucleotide exchange factor activity IMP 15054402
GO:0005515 protein binding IPI 15060152
GO:0005524 ATP binding IDA 11323413
GO:0005525 GTP binding IDA 11323413
genes like me logo Genes that share ontologies with EIF2B2: view
genes like me logo Genes that share phenotypes with EIF2B2: view

Human Phenotype Ontology for EIF2B2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EIF2B2 Gene

MGI Knock Outs for EIF2B2:
  • Eif2b2 Eif2b2<tm2a(KOMP)Wtsi>

Animal Model Products

miRNA for EIF2B2 Gene

miRTarBase miRNAs that target EIF2B2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for EIF2B2 Gene

Localization for EIF2B2 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 EIF2B2 gene
Compartment Confidence
cytosol 5
plasma membrane 3
nucleus 3
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Focal adhesion sites (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EIF2B2 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 EIF2B2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for EIF2B2 Gene

Pathways & Interactions for EIF2B2 Gene

genes like me logo Genes that share pathways with EIF2B2: view

SIGNOR curated interactions for EIF2B2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for EIF2B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001541 ovarian follicle development IMP 15507143
GO:0006412 translation IEA --
GO:0006413 translational initiation IEA,IDA 16289705
GO:0006446 regulation of translational initiation TAS 15060152
GO:0007417 central nervous system development IMP 15776425
genes like me logo Genes that share ontologies with EIF2B2: view

Drugs & Compounds for EIF2B2 Gene

(1) Drugs for EIF2B2 Gene - From: HMDB

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

(2) Additional Compounds for EIF2B2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with EIF2B2: view

Transcripts for EIF2B2 Gene

mRNA/cDNA for EIF2B2 Gene

Unigene Clusters for EIF2B2 Gene

Eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EIF2B2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9
SP1: - -
SP2: - -
SP3:
SP4:

Relevant External Links for EIF2B2 Gene

GeneLoc Exon Structure for
EIF2B2
ECgene alternative splicing isoforms for
EIF2B2

Expression for EIF2B2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EIF2B2 Gene

Protein differential expression in normal tissues from HIPED for EIF2B2 Gene

This gene is overexpressed in Pancreas (15.7) and Peripheral blood mononuclear cells (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EIF2B2 Gene



Protein tissue co-expression partners for EIF2B2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EIF2B2 Gene:

EIF2B2

SOURCE GeneReport for Unigene cluster for EIF2B2 Gene:

Hs.409137

Evidence on tissue expression from TISSUES for EIF2B2 Gene

  • Nervous system(4.7)
  • Lung(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EIF2B2 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 EIF2B2: 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 EIF2B2 Gene

Orthologs for EIF2B2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EIF2B2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EIF2B2 34 33
  • 99.53 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EIF2B2 34 33
  • 92.69 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 91 (a)
OneToMany
-- 34
  • 85 (a)
OneToMany
cow
(Bos Taurus)
Mammalia EIF2B2 34 33
  • 90.5 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eif2b2 33
  • 90.22 (n)
mouse
(Mus musculus)
Mammalia Eif2b2 16 34 33
  • 89.08 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EIF2B2 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves EIF2B2 34 33
  • 79.01 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EIF2B2 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eif2b2 33
  • 71.79 (n)
Str.5710 33
zebrafish
(Danio rerio)
Actinopterygii eif2b2 34 33
  • 72.67 (n)
OneToOne
Dr.4626 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3346 33
fruit fly
(Drosophila melanogaster)
Insecta eIF2B-beta 34 33
  • 56.07 (n)
OneToOne
eIF2B-&bgr; 35
  • 48 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007097 33
  • 55.56 (n)
worm
(Caenorhabditis elegans)
Secernentea Y47H9C.7 34
  • 25 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR292C 33
  • 48.33 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A04433g 33
  • 45.96 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCD7 36 34 33
  • 44.71 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G07300 33
  • 52.02 (n)
rice
(Oryza sativa)
Liliopsida Os10g0392700 33
  • 51.44 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
OneToOne
Cin.5793 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC343.14c 33
  • 49.5 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5793 33
Species where no ortholog for EIF2B2 was found in the sources mined by GeneCards:
  • 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)
  • 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)
  • 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 EIF2B2 Gene

ENSEMBL:
Gene Tree for EIF2B2 (if available)
TreeFam:
Gene Tree for EIF2B2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EIF2B2: view image

Paralogs for EIF2B2 Gene

No data available for Paralogs for EIF2B2 Gene

Variants for EIF2B2 Gene

Sequence variations from dbSNP and Humsavar for EIF2B2 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs104894425 pathogenic, Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy, Leukodystrophy with vanishing white matter (VWM) [MIM:603896] 75,005,906(+) A/G coding_sequence_variant, missense_variant
rs104894426 pathogenic, Leukoencephalopathy with vanishing white matter, Leukodystrophy with vanishing white matter (VWM) [MIM:603896] 75,009,079(+) T/A coding_sequence_variant, missense_variant
rs104894427 pathogenic, Ovarioleukodystrophy 75,004,850(+) C/T coding_sequence_variant, stop_gained
rs104894428 pathogenic, Ovarioleukodystrophy, Leukodystrophy with vanishing white matter (VWM) [MIM:603896] 75,004,815(+) C/A/T coding_sequence_variant, missense_variant
rs112087431 likely-benign, not specified, Leukoencephalopathy with vanishing white matter, Lynch syndrome 75,009,191(+) G/A/C 3_prime_UTR_variant

Variation tolerance for EIF2B2 Gene

Residual Variation Intolerance Score: 27.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.31; 25.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EIF2B2 Gene

Human Gene Mutation Database (HGMD)
EIF2B2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EIF2B2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for EIF2B2 Gene

Disorders for EIF2B2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for EIF2B2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

EI2BB_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:12707859, ECO:0000269 PubMed:15776425, ECO:0000269 PubMed:21484434, ECO:0000269 PubMed:22285377, ECO:0000269 PubMed:22729508}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for EIF2B2

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 EIF2B2: view

No data available for Genatlas for EIF2B2 Gene

Publications for EIF2B2 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 58
  2. Ovarian failure related to eukaryotic initiation factor 2B mutations. (PMID: 12707859) Fogli A … Boespflug-Tanguy O (American journal of human genetics 2003) 3 4 22 58
  3. Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. (PMID: 11704758) Leegwater PA … van der Knaap MS (Nature genetics 2001) 3 4 22 58
  4. Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course. (PMID: 22729508) Sambati L … Capellari S (Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2013) 3 4 58
  5. Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype. (PMID: 22285377) Alsalem A … Alkuraya FS (Gene 2012) 3 4 58

Products for EIF2B2 Gene

Sources for EIF2B2 Gene

Content
Loading form....