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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
External Ids for EIF2B1 Gene
- HGNC: 3257
- NCBI Entrez Gene: 1967
- Ensembl: ENSG00000111361
- OMIM®: 606686
- UniProtKB/Swiss-Prot: Q14232
Previous HGNC Symbols for EIF2B1 Gene
- EIF2B
Previous GeneCards Identifiers for EIF2B1 Gene
- GC12M122707
- GC12P123804
- GC12M123829
- GC12M122458
- GC12M122630
- GC12M124105
- GC12M121066
Summaries 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 Beta-Adrenergic Signaling 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. An important paralog of this gene is EIF2B2.
UniProtKB/Swiss-Prot Summary for EIF2B1 Gene
-
Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.
Additional gene information for EIF2B1 Gene
- HGNC (3257)
- NCBI Entrez Gene (1967)
- Ensembl (ENSG00000111361)
- OMIM® (606686)
- UniProtKB/Swiss-Prot (Q14232)
- Open Targets Platform(ENSG00000111361)
- Monarch Initiative
- Search for EIF2B1 at DataMed
- Search for EIF2B1 at HumanCyc
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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
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
Latest Assembly
- chr12:123,620,406-123,633,766
- (GRCh38/hg38)
- Size:
- 13,361 bases
- Orientation:
- Minus strand
Previous Assembly
- chr12:124,104,953-124,118,233
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 13,281 bases
- Orientation:
- Minus strand
- chr12:124,104,953-124,118,313
- (GRCh37/hg19 by Ensembl)
- Size:
- 13,361 bases
- Orientation:
- Minus strand
Genomic View for EIF2B1 Gene
Genes around EIF2B1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q24.31 by HGNC
- 12q24.31 by Entrez Gene
- 12q24.31 by Ensembl
EIF2B1 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 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
- 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
Protein Expression for EIF2B1 Gene
Post-translational modifications for EIF2B1 Gene
Other Protein References for EIF2B1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ EIF2B1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for EIF2B1
- Novus Biologicals Antibodies for EIF2B1
-
Abcam antibodies for EIF2B1
- Invitrogen Antibodies for EIF2B1 (AFLGC-EIF2B1)
-
Custom Antibody ServicesProSci Antibodies for EIF2B1
-
Santa Cruz Biotechnology (SCBT) Antibodies for EIF2B1
Protein products for research
-
OriGene Purified Proteins for EIF2B1
- Search Origene for MassSpec and Protein Over-expression Lysates for EIF2B1
- Origene Custom Protein Services for EIF2B1
- ProSpec Recombinant Proteins for EIF2B1
-
Abcam proteins for EIF2B1
Assay products for research
- antibodies-online: Show 5 available EIF2B1 Elisa Kits ranked by validation data
- Compare Top EIF2B1 Elisa Kits
-
Quality Products:
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:
-
- Initiation factor 2B
- 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- Family:
-
- Belongs to the eIF-2B alpha/beta/delta subunits family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003743 | contributes_to translation initiation factor activity | IBA,IDA | 16289705 |
| GO:0005085 | contributes_to guanyl-nucleotide exchange factor activity | IBA,IDA | 11323413 |
| GO:0005515 | protein binding | IPI | 9235896 |
| GO:0042802 | identical protein binding | IPI | 25416956 |
Phenotypes for EIF2B1 Gene
- GenomeRNAi human phenotypes for EIF2B1:
-
- no effect
- Decreased ionizing radiation sensitivity
- Reduced mammosphere formation
- Decreased viability ratio
- Increased shRNA abundance (Z-score > 2)
- Decreased POU5F1-GFP protein expression
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Strongly decreased CFP-tsO45G cell surface transport
- Decreased shRNA abundance (Z-score < -2)
- Increased G1 DNA content
- Decreased OCT4 protein expression
- Decreased NANOG protein expression
- Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)
- Decreased G3BP1 protein expression and assembly in stress granules after arsenite stimulation
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for EIF2B1 - Starting at $85 >
- * EIF2B1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for EIF2B1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EIF2B1
-
Santa Cruz Biotechnology (SCBT) CRISPR for EIF2B1
miRNA for EIF2B1 Gene
- miRTarBase miRNAs that target EIF2B1
-
- hsa-miR-30a-5p (MIRT028525)
- hsa-miR-26b-5p (MIRT029246)
- hsa-miR-1228-3p (MIRT036393)
- hsa-miR-30b-5p (MIRT046139)
- hsa-miR-218-5p (MIRT440741)
- hsa-miR-1277-5p (MIRT508630)
- hsa-miR-190a-3p (MIRT508631)
- hsa-miR-5011-5p (MIRT508632)
- hsa-miR-410-3p (MIRT508633)
- hsa-miR-6796-3p (MIRT508634)
- hsa-miR-99b-3p (MIRT508635)
- hsa-miR-99a-3p (MIRT508636)
- hsa-miR-493-5p (MIRT550251)
- hsa-miR-656-3p (MIRT550252)
- hsa-miR-5580-3p (MIRT550253)
- mmu-miR-709 (MIRT599071)
- mmu-miR-363-5p (MIRT599072)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EIF2B1
- Browse OriGene Inhibitory RNA Products For EIF2B1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EIF2B1
Clone products for research
- Applied Biological Materials (abm): Clones for EIF2B1 - Starting at $45 >
- * EIF2B1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for EIF2B1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter 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
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytosol | 5 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
- Cytosol (2)
| 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 | IBA,IDA | 11323413 |
| GO:0005886 | plasma membrane | IDA | 9235896 |
| GO:0016020 | membrane | IDA | 9235896 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for EIF2B1 Gene
Pathways & Interactions for EIF2B1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Viral mRNA Translation |
.77
|
|
| 2 | NFAT and Cardiac Hypertrophy |
Signaling Involved in Cardiac Hypertrophy
.42
|
IGF1R Signaling
.37
|
| 3 | Translation Factors | ||
| 4 | Regulation of lipid metabolism Insulin signaling-generic cascades |
Translation Insulin regulation of translation
.59
|
Translation Regulation of EIF2 activity
.47
|
| 5 | Herpes simplex virus 1 infection | ||
Pathways by source for EIF2B1 Gene
1 BioSystems pathway for EIF2B1 Gene
6 Reactome pathways for EIF2B1 Gene
2 KEGG pathways 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
Interacting Proteins for EIF2B1 Gene
Selected Interacting proteins:
Q14232-EI2BA_HUMAN
ENSP00000416250
for EIF2B1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for EIF2B1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006412 | translation | IEA | -- |
| GO:0006413 | translational initiation | IBA,IDA | 16289705 |
| GO:0006446 | regulation of translational initiation | IBA | 21873635 |
| GO:0009408 | response to heat | TAS | -- |
| GO:0009749 | response to glucose | ISS | -- |
Drugs & Compounds for EIF2B1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Guanosine triphosphate | Experimental | Pharma | 0 |
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 :
-
- ENST00000424014 2397 nts (view in UCSC)
- ENST00000452159 622 nts (view in UCSC)
- ENST00000534960 618 nts (view in UCSC)
- ENST00000537073 1768 nts (view in UCSC)
- ENST00000539951 848 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for EIF2B1 - Starting at $85 >
- * EIF2B1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for EIF2B1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EIF2B1
-
Santa Cruz Biotechnology (SCBT) CRISPR for EIF2B1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EIF2B1
- Browse OriGene Inhibitory RNA Products For EIF2B1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EIF2B1
Clone products for research
- Applied Biological Materials (abm): Clones for EIF2B1 - Starting at $45 >
- * EIF2B1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for EIF2B1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EIF2B1
Relevant External Links for EIF2B1 Gene
- GeneLoc Exon Structure for
- EIF2B1
Expression for EIF2B1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Liver (Hepatobiliary System)
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EIF2B1
SOURCE GeneReport for Unigene cluster for EIF2B1 Gene:
Hs.741273Evidence on tissue expression from TISSUES for EIF2B1 Gene
- Nervous system(4.9)
- Liver(4.5)
- Skin(2.1)
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
Primer products for research
-
OriGene qPCR primer pairs for EIF2B1
-
OriGene qPCR primer pairs and template standards for EIF2B1
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | EIF2B1 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | EIF2B1 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | EIF2B1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | EIF2B1 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | EIF2B1 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Eif2b1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Eif2b1 30 |
|
||
| Chicken (Gallus gallus) |
Aves | EIF2B1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | EIF2B1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | eif2b1 30 |
|
||
| Str.10227 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | eif2b1 31 31 |
|
OneToMany | |
| LOC100151592 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | eIF2B-alpha 30 31 32 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012799 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | ZK1098.4 30 31 32 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GCN3 30 31 |
|
OneToOne | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F13970g 30 |
|
||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFR084C 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G72340 30 |
|
||
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.10349 30 |
|
||
| Soybean (Glycine max) |
eudicotyledons | Gma.6702 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os12g0497400 30 |
|
||
| Os.18456 30 |
|
||||
| Corn (Zea mays) |
Liliopsida | Zm.12770 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.2507 31 |
|
OneToOne | |
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPCC11E10.07c 30 |
|
- 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 Vase (Ciona intestinalis)
- 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
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 |
|---|---|---|---|---|---|
| 813657 | Uncertain Significance: Microcephaly; Leukoencephalopathy with vanishing white matter | 123,633,551(-) |
C/A NM_001414.4(EIF2B1):c.7G>T (p.Asp3Tyr) |
MISSENSE | |
| 881126 | Uncertain Significance: Leukoencephalopathy with vanishing white matter | 123,621,248(-) |
T/A NM_001414.4(EIF2B1):c.*508A>T |
THREE_PRIME_UTR | |
| 881597 | Benign: Leukoencephalopathy with vanishing white matter | 123,621,402(-) |
G/T NM_001414.4(EIF2B1):c.*354C>A |
THREE_PRIME_UTR | |
| 881598 | Uncertain Significance: Leukoencephalopathy with vanishing white matter | 123,621,424(-) |
T/C NM_001414.4(EIF2B1):c.*332A>G |
THREE_PRIME_UTR | |
| 881599 | Uncertain Significance: Leukoencephalopathy with vanishing white matter | 123,621,537(-) |
G/A NM_001414.4(EIF2B1):c.*219C>T |
THREE_PRIME_UTR |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EIF2B1 Gene
Disorders for EIF2B1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| leukoencephalopathy with vanishing white matter |
|
|
| childhood ataxia with central nervous system hypomyelination / vanishing white matter |
|
|
| leukodystrophy |
|
|
| megalencephalic leukoencephalopathy with subcortical cysts 1 |
|
|
| spastic ataxia 4 |
|
|
Search EIF2B1 in MalaCards
View complete list of genes associated with diseases
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 variants affecting the gene represented in this entry.
Additional Disease Information for EIF2B1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for EIF2B1 Gene
Publications for EIF2B1 Gene
- Identification of ten novel mutations in patients with eIF2B-related disorders. (PMID: 15776425) Ohlenbusch A … Gärtner J (Human mutation 2005) 3 4 23
- Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. (PMID: 11835386) van der Knaap MS … Pronk JC (Annals of neurology 2002) 3 4 74
- 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
- Genetic and clinical heterogeneity in eIF2B-related disorder. (PMID: 18263758) Maletkovic J … Vanderver A (Journal of child neurology 2008) 3 74
- 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
ExternalLinks
Products for EIF2B1 Gene
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Sources for EIF2B1 Gene
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