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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 nameGene Name - the full gene name approved by the HGNC.
Eukaryotic translation initiation factor 2B subunit gamma
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
EIF2B3
SynonymsGene synonyms aliases
EIF-2B, EIF2Bgamma, VWM3
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p34.1
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
GO ID Ontology Definition Evidence Reference
GO:0002183 Process Cytoplasmic translational initiation IBA 21873635
GO:0003743 Function Translation initiation factor activity IDA 10900014, 16289705
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 11323413
GO:0005085 Function Guanyl-nucleotide exchange factor activity IMP 15054402
GO:0005515 Function Protein binding IPI 15060152
Other IDsOther 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
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Herpes simplex virus 1 infection   Recycling of eIF2:GDP
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term 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, rs28937596, rs113994074, rs113994049, rs113994054, rs113994061, rs113994055, rs113994053, rs113994064, rs121908541, rs397514646, rs397514647, rs397514648, rs113994048, rs113994012, rs758746181, rs767933078, rs113994060, rs113994030, rs1064794256, rs141988913, rs113994016, rs372548739, rs752636698, rs755436800, rs113994068, rs545593935 25079571, 19158808, 11835386, 15136673, 28597716, 24357685, 21484434, 25761052
Macrocephaly Macrocephaly rs786204854, rs764333096, rs1557739557
Unknown
Disease name Disease term dbSNP ID References
Cach syndrome Late infantile CACH syndrome
Central nervous system demyelination Central nervous system demyelination
Cree leukoencephalopathy Cree leukoencephalopathy
Delusions Delusions

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