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 Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter. Among its related pathways are NFAT and Cardiac Hypertrophy and Beta-Adrenergic Signaling. 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.
Additional gene information for EIF2B2 Gene
- Monarch Initiative
- Search for EIF2B2 at DataMed
- Search for EIF2B2 at HumanCyc
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
- 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:
Regulatory Element Products
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:
-
- 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
- Ubiquitination at posLast=237237
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
- 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
- Search GeneTex for Proteins for EIF2B2
Assay Products
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
- 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.
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
| 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
- genomics-online: gRNA clones - Search results for 140 available EIF2B2 gene related products
- Overview of 140 available EIF2B2 gene related products
- Applied Biological Materials CRISPR for EIF2B2
-
Vectors and viruses for KO, Activation, Repression, and more
-
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
- genomics-online: shRNA clones - Search results for 140 available EIF2B2 gene related products
- Overview of 140 available EIF2B2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for EIF2B2 gene
Clone Products
- 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
- Applied Biological Materials Clones for EIF2B2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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 |
- Focal adhesion sites (2)
- Nucleoplasm (2)
- Plasma membrane (2)
| 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:
P49770-EI2BB_HUMAN
ENSP00000266126
for EIF2B2 Gene via
IID
STRING
UniProtKB
MINT
| 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
- genomics-online: gRNA clones - Search results for 140 available EIF2B2 gene related products
- Overview of 140 available EIF2B2 gene related products
- Applied Biological Materials CRISPR for EIF2B2
-
Vectors and viruses for KO, Activation, Repression, and more
-
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
- genomics-online: shRNA clones - Search results for 140 available EIF2B2 gene related products
- Overview of 140 available EIF2B2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for EIF2B2 gene
Clone Products
- 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
- Applied Biological Materials Clones for EIF2B2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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
- genomics-online: primer clones - Search results for 140 available EIF2B2 gene related products
- Overview of 140 available EIF2B2 gene related products
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 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | EIF2B2 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | EIF2B2 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Eif2b2 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Eif2b2 33 16 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | EIF2B2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | EIF2B2 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | EIF2B2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | eif2b2 33 |
|
||
| Str.5710 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | eif2b2 33 34 |
|
||
| Dr.4626 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3346 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | eIF2B-beta 33 34 |
|
||
| eIF2B-bgr 35 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007097 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | Y47H9C.7 34 |
|
OneToOne | |
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AGR292C 33 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0A04433g 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GCD7 33 34 36 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT3G07300 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os10g0392700 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne | |
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC343.14c 33 |
|
||
| 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)
Paralogs for EIF2B2 Gene
No data available for Paralogs for EIF2B2 Gene
Variants 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 |
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
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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| leukoencephalopathy with vanishing white matter |
|
|
| childhood ataxia with central nervous system hypomyelination/vanishing white matter |
|
|
| leukodystrophy |
|
|
| early-onset familial alzheimer disease |
|
|
| 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.
Additional Disease Information for EIF2B2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 … Gärtner J (Human mutation 2005) 3 4 22 58
- 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
- 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
- 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
- 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
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- GeneTex EIF2B2 antibody for EIF2B2
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- genomics-online: cdna clones - Search results for 140 available EIF2B2 gene related products
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- Overview of 140 available EIF2B2 gene related products
Sources for EIF2B2 Gene
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