Aliases for EIF2B2 Gene
Aliases for EIF2B2 Gene
External Ids for EIF2B2 Gene
- HGNC: 3258
- Entrez Gene: 8892
- Ensembl: ENSG00000119718
- OMIM: 606454
- UniProtKB: P49770
Previous GeneCards Identifiers for EIF2B2 Gene
- GC14P072996
- GC14P069286
- GC14P073459
- GC14P074539
- GC14P075469
- GC14P055637
Summaries 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 Eif2b2-Related 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 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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EIF2B2 Gene
Genomics for EIF2B2 Gene
Regulatory Elements for EIF2B2 Gene
Enhancers for EIF2B2 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around EIF2B2 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the EIF2B2 gene promoter:
Regulatory Element Products
Genomic Location for EIF2B2 Gene
- Chromosome:
- 14
- Start:
- 75,002,909 bp from pter
- End:
- 75,012,366 bp from pter
- Size:
- 9,458 bases
- Orientation:
- Plus strand
Genomic View for EIF2B2 Gene
Genes around EIF2B2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 14q24.3 by Ensembl
- 14q24.3 by Entrez Gene
- 14q24.3 by HGNC
EIF2B2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for EIF2B2 Gene
Post-translational modifications for EIF2B2 Gene
Other Protein References for EIF2B2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for EIF2B2
-
Abcam antibodies for EIF2B2
- Invitrogen Antibodies for EIF2B2
- antibodies-online Antibodies for EIF2B2: See all 35
- GeneTex EIF2B2 antibody for EIF2B2
-
Santa Cruz Biotechnology (SCBT) Antibodies for EIF2B2
Protein Products
-
OriGene Purified Proteins for EIF2B2
- Search Origene for MassSpec and Protein Over-expression Lysates for EIF2B2
- Origene Custom Protein Services for EIF2B2
- antibodies-online Proteins for EIF2B2: See all 9
- Search antibodies-online for peptides
- Search GeneTex for Proteins for EIF2B2
No data available for DME Specific Peptides for EIF2B2 Gene
Domains & Families for EIF2B2 Gene
Protein Domains for EIF2B2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for EIF2B2 Gene
Graphical View of Domain Structure for InterPro Entry
P49770- Family:
-
- Belongs to the eIF-2B alpha/beta/delta subunits family.
No data available for Gene Families for EIF2B2 Gene
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.
| 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 | IMP | 15054402 |
| GO:0005515 | protein binding | IPI | 15060152 |
| GO:0005524 | ATP binding | IDA | 11323413 |
| GO:0005525 | GTP binding | IDA | 11323413 |
Phenotypes for EIF2B2 Gene
- MGI mutant phenotypes for EIF2B2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for EIF2B2:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Decreased viability ratio
- Dynamic nuclei (hole, folded or small irregular)
- Decreased NF-kappaB reporter expression
- Decreased viability with paclitaxel
- Decreased POU5F1-GFP protein expression
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased IL-8 secretion
- Decreased OCT4 protein expression
- Decreased NANOG protein expression
- Decreased viability with TRAIL
Animal Models for EIF2B2 Gene
- MGI Knock Outs for EIF2B2:
-
- Eif2b2 tm2a(KOMP)Wtsi
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for EIF2B2
-
-
ViGene Biosciences lentiviral particle packaged cDNA for EIF2B2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for EIF2B2 gene
- Search ViGene Biosciences for EIF2B2
CRISPR Products
-
OriGene CRISPR knockouts for EIF2B2
-
Santa Cruz Biotechnology (SCBT) CRISPR for EIF2B2
- GenScript: Design CRISPR guide RNA sequences for EIF2B2
miRNA for EIF2B2 Gene
- miRTarBase miRNAs that target EIF2B2
-
- hsa-mir-155-5p (MIRT020527)
- hsa-mir-16-5p (MIRT031428)
- hsa-mir-455-3p (MIRT037833)
- hsa-mir-92b-3p (MIRT040533)
- hsa-mir-92a-3p (MIRT049061)
- hsa-mir-17-5p (MIRT280206)
- hsa-mir-20a-5p (MIRT280207)
- hsa-mir-93-5p (MIRT280208)
- hsa-mir-106a-5p (MIRT280209)
- hsa-mir-106b-5p (MIRT280210)
- hsa-mir-20b-5p (MIRT280211)
- hsa-mir-526b-3p (MIRT280212)
- hsa-mir-519d-3p (MIRT280213)
- hsa-mir-3686 (MIRT658782)
- hsa-mir-4279 (MIRT658783)
- hsa-mir-6881-3p (MIRT658784)
- hsa-mir-1298-5p (MIRT658785)
- hsa-mir-4742-3p (MIRT658786)
- hsa-mir-6515-3p (MIRT658787)
- hsa-mir-877-3p (MIRT658788)
- hsa-mir-4778-5p (MIRT658789)
- hsa-mir-4686 (MIRT658790)
- hsa-mir-6838-5p (MIRT658791)
- hsa-mir-497-5p (MIRT658792)
- hsa-mir-424-5p (MIRT658793)
- hsa-mir-195-5p (MIRT658794)
- hsa-mir-15b-5p (MIRT658795)
- hsa-mir-15a-5p (MIRT658796)
- hsa-mir-3184-3p (MIRT658797)
- hsa-mir-378a-5p (MIRT664680)
- hsa-mir-6821-3p (MIRT664681)
- hsa-mir-6790-3p (MIRT664682)
- hsa-mir-324-3p (MIRT664683)
- hsa-mir-1913 (MIRT664684)
- hsa-mir-3653-5p (MIRT664685)
- hsa-mir-5193 (MIRT664686)
- hsa-mir-4667-3p (MIRT664687)
- hsa-mir-8079 (MIRT664688)
- hsa-mir-1245a (MIRT664689)
- hsa-mir-5089-5p (MIRT695962)
- hsa-mir-5589-5p (MIRT695963)
- hsa-mir-4731-5p (MIRT695964)
- hsa-mir-6778-3p (MIRT695965)
- hsa-mir-4290 (MIRT695966)
- hsa-mir-6506-5p (MIRT695967)
- hsa-mir-619-5p (MIRT695968)
- hsa-mir-18a-3p (MIRT695969)
- hsa-mir-150-5p (MIRT695970)
- hsa-mir-186-3p (MIRT695971)
- hsa-mir-520h (MIRT695972)
- hsa-mir-520g-3p (MIRT695973)
- hsa-mir-512-3p (MIRT695974)
- hsa-mir-520e (MIRT695975)
- hsa-mir-520d-3p (MIRT695976)
- hsa-mir-520c-3p (MIRT695977)
- hsa-mir-520b (MIRT695978)
- hsa-mir-520a-3p (MIRT695979)
- hsa-mir-373-3p (MIRT695980)
- hsa-mir-372-3p (MIRT695981)
- hsa-mir-302e (MIRT695982)
- hsa-mir-302d-3p (MIRT695983)
- hsa-mir-302c-3p (MIRT695984)
- hsa-mir-302b-3p (MIRT695985)
- hsa-mir-302a-3p (MIRT695986)
miRNA Products
- Search ViGene Biosciences for EIF2B2
Inhibitory RNA Products
- Origene RNAi, shRNA, and siRNA products in human, mouse, rat for EIF2B2
- Browse OriGene Inhibitory RNA Products For EIF2B2
-
ViGene Biosciences ready-to-package AAV shRNAs for EIF2B2 gene
Clone Products
-
OriGene ORF clones in human for EIF2B2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for EIF2B2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for EIF2B2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for EIF2B2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for EIF2B2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for EIF2B2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for EIF2B2 gene
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for EIF2B2 Gene
Localization for EIF2B2 Gene
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| plasma membrane | 3 |
| nucleus | 3 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
| 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 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for EIF2B2 Gene
Pathways & Interactions for EIF2B2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Viral mRNA Translation |
.77
|
|
| 2 | NFAT and Cardiac Hypertrophy |
.37
|
|
| 3 | Translation Factors | ||
| 4 | Regulation of lipid metabolism Insulin signaling-generic cascades | ||
| 5 | RNA transport | ||
Pathways by source for EIF2B2 Gene
2 BioSystems pathways for EIF2B2 Gene
6 Reactome pathways for EIF2B2 Gene
1 KEGG pathway for EIF2B2 Gene
2 GeneGo (Thomson Reuters) pathways for EIF2B2 Gene
5 Qiagen pathways for EIF2B2 Gene
Interacting Proteins for EIF2B2 Gene
Selected Interacting proteins:
ENSP00000266126
P49770-EI2BB_HUMAN
for EIF2B2 Gene via
STRING
MINT
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001541 | ovarian follicle development | IMP | 15507143 |
| GO:0006412 | translation | IEA | -- |
| GO:0006413 | translational initiation | IDA | 16289705 |
| GO:0006446 | regulation of translational initiation | TAS | 15060152 |
| GO:0007417 | central nervous system development | IMP | 15776425 |
Drugs & Compounds for EIF2B2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Guanosine triphosphate | Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for EIF2B2 Gene
mRNA/cDNA for EIF2B2 Gene
- (1) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (261) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for EIF2B2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for EIF2B2
-
Santa Cruz Biotechnology (SCBT) CRISPR for EIF2B2
- GenScript: Design CRISPR guide RNA sequences for EIF2B2
miRNA Products
- Search ViGene Biosciences for EIF2B2
Inhibitory RNA Products
- Origene RNAi, shRNA, and siRNA products in human, mouse, rat for EIF2B2
- Browse OriGene Inhibitory RNA Products For EIF2B2
-
ViGene Biosciences ready-to-package AAV shRNAs for EIF2B2 gene
Clone Products
-
OriGene ORF clones in human for EIF2B2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for EIF2B2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for EIF2B2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for EIF2B2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||
| SP4: |
Expression 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, PaxDb, MaxQB, and MOPED for EIF2B2 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of EIF2B2 Gene:
EIF2B2SOURCE GeneReport for Unigene cluster for EIF2B2 Gene:
Hs.409137Evidence 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
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
Primer Products
-
OriGene qPCR primer pairs for EIF2B2
-
OriGene qPCR primer pairs and template standards for EIF2B2
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | EIF2B2 35 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | EIF2B2 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | EIF2B2 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Eif2b2 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Eif2b2 16 35 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | EIF2B2 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | EIF2B2 35 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | EIF2B2 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | eif2b2 34 |
|
||
| Str.5710 34 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | eif2b2 34 35 |
|
||
| Dr.4626 34 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3346 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | eIF2B-beta 34 35 |
|
||
| eIF2B-bgr 36 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007097 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | Y47H9C.7 35 |
|
OneToOne | |
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AGR292C 34 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0A04433g 34 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GCD7 34 35 37 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT3G07300 34 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os10g0392700 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToOne | |
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC343.14c 34 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.5793 34 |
|
- 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)
Paralogs for EIF2B2 Gene
No data available for Paralogs for EIF2B2 Gene
Variants for EIF2B2 Gene
| SNP ID | Clin | Chr 14 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs104894425 | Pathogenic, Leukodystrophy with vanishing white matter (VWM) [MIM:603896] | 75,005,906(+) | TATTG(A/G)GACAA | reference, missense | |
| rs104894426 | Pathogenic, Leukodystrophy with vanishing white matter (VWM) [MIM:603896] | 75,009,079(+) | CTACG(A/T)TCCCC | reference, missense | |
| rs104894428 | Pathogenic, Leukodystrophy with vanishing white matter (VWM) [MIM:603896] | 75,004,815(+) | CTTCT(C/T)CCGAA | reference, missense | |
| rs113994011 | Leukodystrophy with vanishing white matter (VWM) [MIM:603896] | 75,004,889(+) | GTGCT(C/T)CTTTC | reference, missense | |
| rs113994012 | Pathogenic, Leukodystrophy with vanishing white matter (VWM) [MIM:603896] | 75,005,867(+) | GCAGG(C/G/T)TCATG | reference, missense |
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)
Relevant External Links for EIF2B2 Gene
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
(5) MalaCards diseases for EIF2B2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| leukoencephalopathy with vanishing white matter |
|
|
| eif2b2-related childhood ataxia with central nervous system hypomyelination/vanishing white matter |
|
|
| leukodystrophy |
|
|
| childhood ataxia with central nervous system hypomyelination/vanishing white matter |
|
|
| cerebral degeneration |
|
|
Search EIF2B2 in MalaCards
View complete list of genes associated with diseases
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.
Relevant External Links for EIF2B2
No data available for Genatlas for EIF2B2 Gene
Publications for EIF2B2 Gene
- Identification of ten novel mutations in patients with eIF2B-related disorders. (PMID: 15776425) Ohlenbusch A. … Gartner J. (Hum. Mutat. 2005) 3 4 22 64
- Ovarian failure related to eukaryotic initiation factor 2B mutations. (PMID: 12707859) Fogli A. … Boespflug-Tanguy O. (Am. J. Hum. Genet. 2003) 3 4 22 64
- Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. (PMID: 11704758) Leegwater P.A.J. … van der Knaap M.S. (Nat. Genet. 2001) 3 4 22 64
- Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype. (PMID: 22285377) Alsalem A. … Alkuraya F.S. (Gene 2012) 3 4 64
- 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. (Neurol. Sci. 2012) 3 4 64
Products for EIF2B2 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
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- OriGene Purified Proteins for EIF2B2
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- GenScript: Next-day shipping cDNA ORF clone for EIF2B2 in any vector
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- CloneReady with Over 120,000 Genes
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- Novus Biologicals Antibodies for EIF2B2
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- antibodies-online Antibodies for EIF2B2: See all 35
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- GeneTex EIF2B2 antibody for EIF2B2
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- ViGene Biosciences adenoviral particle packaged cDNA for EIF2B2 gene
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- ViGene Biosciences ready-to-package AAV shRNAs for EIF2B2 gene
- Search ViGene Biosciences for EIF2B2
- Santa Cruz Biotechnology (SCBT) Antibodies for EIF2B2
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- Cyagen custom Knockout/knockin (KOKI) mouse models for EIF2B2
- VectorBuilder custom plasmid, inducible vectors for EIF2B2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for EIF2B2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for EIF2B2 Gene
- (1) GeneCards
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- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
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- (42) dbSNP
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- (44) GeneTests
- (45) HGMD
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- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
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- (59) MILLIPORE
- (60) miRBase
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- (62) NCBI
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- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
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- (98) BioGPS
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- (100) COMPARTMENTS
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- (146) Cyagen
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- (148) SNPedia
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- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer