Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1967
Gene name Gene Name - the full gene name approved by the HGNC.
Eukaryotic translation initiation factor 2B subunit alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EIF2B1
Synonyms (NCBI Gene) Gene synonyms aliases
EIF2B, EIF2BA, EIF2Balpha, VWM1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
VWM1
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.31
Summary Summary of gene provided in NCBI Entrez 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 E
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs113994006 C>T Pathogenic, uncertain-significance Splice donor variant
rs113994007 T>A Pathogenic Coding sequence variant, missense variant
rs148714712 C>T Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
rs758746181 T>C Pathogenic Missense variant, coding sequence variant
rs863225048 C>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT028525 hsa-miR-30a-5p Proteomics 18668040
MIRT029246 hsa-miR-26b-5p Microarray 19088304
MIRT046139 hsa-miR-30b-5p CLASH 23622248
MIRT036393 hsa-miR-1228-3p CLASH 23622248
MIRT508636 hsa-miR-99a-3p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003743 Function Translation initiation factor activity IBA 21873635
GO:0003743 Function Translation initiation factor activity IDA 16289705
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA 21873635
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 11323413
GO:0005515 Function Protein binding IPI 9235896, 25416956, 29892012, 31515488, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606686 3257 ENSG00000111361
Protein
UniProt ID Q14232
Protein name Translation initiation factor eIF2B subunit alpha (eIF2B GDP-GTP exchange factor subunit alpha)
Protein function Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucl
PDB 3ECS , 6CAJ , 6EZO , 6K71 , 6K72 , 6O81 , 6O85 , 6O9Z , 7D43 , 7D44 , 7D45 , 7D46 , 7F64 , 7F66 , 7F67 , 7KMA , 7KMF , 7L70 , 7L7G , 7RLO , 7TRJ , 7VLK , 8TQZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01008 IF-2B 15 293 Initiation factor 2 subunit family Family
Sequence
Sequence length 305
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Herpes simplex virus 1 infection   Recycling of eIF2:GDP
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental regression Developmental regression rs1224421127
Leukoencephalopathy Leukoencephalopathy rs34757931
Leukoencephalopathy with vanishing white matter Childhood Ataxia with Central Nervous System Hypomyelinization rs113994033, rs113994037, rs113994027, rs113994038, rs113994040, rs104894425, rs104894426, rs104894427, rs104894428, rs113994014, rs113994024, rs113994026, rs113994022, rs119474039, rs28939717
View all (26 more)
11835386, 15136673, 24357685, 15776425, 25761052, 16807905
Lung adenocarcinoma Adenocarcinoma of lung (disorder) rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370
View all (5 more)
27602772
Associations from Text Mining
Disease Name Relationship Type References
Carcinoma Squamous Cell Associate 36938730
Chemical and Drug Induced Liver Injury Associate 31882561
Diabetes Mellitus Associate 31882561
Diabetes Mellitus Permanent Neonatal Associate 31882561
Hypoxia Inhibit 24811713
Leukodystrophy Metachromatic Associate 29632131
Leukoencephalopathies Associate 14993275, 26285592, 29632131, 33432707, 34103529
Liver Diseases Associate 31882561
Liver Failure Associate 31882561
Neoplasms Associate 39736017