EIF2B3 (eukaryotic translation initiation factor 2B subunit gamma)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 8891
Gene name Eukaryotic translation initiation factor 2B subunit gamma
Gene symbol EIF2B3
Synonyms (NCBI Gene)
EIF-2BEIF2BgammaVWM3
Chromosome 1
Chromosome location 1p34.1
Summary 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.
6
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.
50
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606273 3259 ENSG00000070785
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
EIF2B3-related disorder Likely pathogenic; Pathogenic rs113994022 RCV003914806
Leukoencephalopathy with vanishing white matter 1 Likely pathogenic; Pathogenic rs752636698 RCV003338781
Leukoencephalopathy with vanishing white matter 3 Likely pathogenic; Pathogenic rs766866104, rs113994024, rs113994026, rs113994022, rs119474039, rs141988913, rs397514647 RCV005017085
RCV003221404
RCV003221405
RCV003221406
RCV003221407
RCV005027574
RCV003221420
Vanishing white matter disease Pathogenic; Likely pathogenic rs113994024, rs766866104, rs113994022, rs119474039, rs141988913, rs752636698, rs1643855445 RCV001702329
RCV005406274
RCV000004689
RCV000004690
RCV000763340
RCV000754838
RCV001248821
Show/Hide Unknown Diseases (12)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs72887005 RCV005887620
Cervical cancer Benign; Likely benign rs72887005 RCV005887621
Cholangiocarcinoma Benign; Likely benign rs72887005 RCV005887626
Clear cell carcinoma of kidney Benign; Likely benign rs72887005 RCV005887622
Show/Hide Text Mining Associations (8)
Associations from Text MiningDisease 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