EIF2B3 (eukaryotic translation initiation factor 2B subunit gamma)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8891
Gene name Gene Name - the full gene name approved by the HGNC.
Eukaryotic translation initiation factor 2B subunit gamma
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EIF2B3
Synonyms (NCBI Gene) Gene synonyms aliases
EIF-2B, EIF2Bgamma, VWM3
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p34.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome e
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs113994022 G>A Pathogenic 5 prime UTR variant, missense variant, coding sequence variant
rs113994024 C>T Pathogenic Missense variant, coding sequence variant
rs119474039 A>G Pathogenic Missense variant, coding sequence variant
rs141988913 C>T Likely-pathogenic Coding sequence variant, 5 prime UTR variant, missense variant
rs397514647 A>T Pathogenic Coding sequence variant, 5 prime UTR variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(50)
miRTarBase ID miRNA Experiments Reference
MIRT032349 hsa-let-7b-5p Proteomics 18668040
MIRT044579 hsa-miR-320a CLASH 23622248
MIRT039698 hsa-miR-615-3p CLASH 23622248
MIRT1983337 hsa-miR-4476 CLIP-seq
MIRT1983338 hsa-miR-4533 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(28)
GO ID Ontology Definition Evidence Reference
GO:0002183 Process Cytoplasmic translational initiation IBA
GO:0002183 Process Cytoplasmic translational initiation IDA 27023709
GO:0003743 Function Translation initiation factor activity IDA 10900014, 16289705
GO:0003743 Function Translation initiation factor activity IEA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606273 3259 ENSG00000070785
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9NR50
Protein name Translation initiation factor eIF2B subunit gamma (eIF2B GDP-GTP exchange factor subunit gamma)
Protein function Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on the eukaryotic initiation factor 2 (eIF2) complex gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its
PDB 6CAJ , 6EZO , 6K71 , 6K72 , 6O81 , 6O85 , 6O9Z , 7D43 , 7D44 , 7D45 , 7D46 , 7F64 , 7F66 , 7F67 , 7KMF , 7L70 , 7L7G , 7RLO , 7TRJ , 7VLK , 8TQO , 8TQZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12804 NTP_transf_3 5 → 246 MobA-like NTP transferase domain Domain
Sequence 
MEFQAVVMAVGGGSRMTDLTSSIPKPLLPVGNKPLIWYPLNLLERVGFEEVIVVTTRDVQ
KALCAEFKMKMKPDIVCIPDDADMGTADSLRYIYPKLKTDVLVLSCDLITDVALHEVVDL
FRAYDASLAMLMRKGQDSIEPVPGQKGKKKAVEQRDFIGVDSTGKRLLFMANEADLDEEL
VIKGSILQKHPRIRFHTGLVDAHLYCLKKYIVDFLMENGSITSIRSELIPYLVRKQFSSA
SSQQGQEEKEEDLKKKELKSLDIYSFIKEANTLNLAPYDACWNACRGDRWEDLSRSQVRC
YVHIMKEGLCSRVSTLGLYMEANRQVPKLLSALCPEEPPVHSSAQIVSKHLVGVDSLIGP
ETQIGEKSSIKRSVIGSSCLIKDRVTITNCLLMNSVTVEEGSNIQGSVICNNAVIEKGAD
IKDCLIGSGQRIEAKAKRVNEVIVGNDQLMEI
Sequence length 452
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Herpes simplex virus 1 infection   Recycling of eIF2:GDP
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Leukoencephalopathy with vanishing white matter Leukoencephalopathy with vanishing white matter 1, Leukoencephalopathy with vanishing white matter 3 rs752636698, rs113994024, rs113994026, rs113994022, rs119474039, rs397514647, rs141988913 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Death Associate 25761052
Dysuria Associate 37981684
Leukoencephalopathies Associate 22238342, 22312164, 25761052, 37981684, 39755597
Movement Disorders Associate 39755597
Mucopolysaccharidosis II Associate 24083598
Neurologic Manifestations Associate 22238342
Parkinson Disease Associate 15986317, 24156912
Primary Ovarian Insufficiency Associate 32962729