EIF2B4 (eukaryotic translation initiation factor 2B subunit delta)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8890
Gene name Gene Name - the full gene name approved by the HGNC.
Eukaryotic translation initiation factor 2B subunit delta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EIF2B4
Synonyms (NCBI Gene) Gene synonyms aliases
EIF-2B, EIF2B, EIF2Bdelta, VWM4
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p23.3
Summary Summary of gene provided in NCBI Entrez Gene.
Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoen
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
SNP ID Visualize variation Clinical significance Consequence
rs113994027 G>A Pathogenic Coding sequence variant, missense variant
rs113994028 C>A,T Likely-pathogenic, uncertain-significance Coding sequence variant, missense variant
rs113994030 G>A Likely-pathogenic Coding sequence variant, missense variant
rs113994035 G>A Pathogenic Coding sequence variant, missense variant
rs113994037 C>T Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
miRTarBase ID miRNA Experiments Reference
MIRT028435 hsa-miR-30a-5p Proteomics 18668040
MIRT048246 hsa-miR-196a-5p CLASH 23622248
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(31)
GO ID Ontology Definition Evidence Reference
GO:0001541 Process Ovarian follicle development IMP 15507143
GO:0002183 Process Cytoplasmic translational initiation IBA
GO:0002183 Process Cytoplasmic translational initiation IDA 27023709
GO:0003743 Function Translation initiation factor activity IDA 16289705
GO:0003743 Function Translation initiation factor activity IEA
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
606687 3260 ENSG00000115211
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9UI10
Protein name Translation initiation factor eIF2B subunit delta (eIF2B GDP-GTP exchange factor subunit delta)
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 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
PF01008 IF-2B 218 → 509 Initiation factor 2 subunit family Family
Sequence 
MAAVAVAVREDSGSGMKAELPPGPGAVGREMTKEEKLQLRKEKKQQKKKRKEEKGAEPET
GSAVSAAQCQVGPTRELPESGIQLGTPREKVPAGRSKAELRAERRAKQEAERALKQARKG
EQGGPPPKASPSTAGETPSGVKRLPEYPQVDDLLLRRLVKKPERQQVPTRKDYGSKVSLF
SHLPQYSRQNSLTQFMSIPSSVIHPAMVRLGLQYSQGLVSGSNARCIALLRALQQVIQDY
TTPPNEELSRDLVNKLKPYMSFLTQCRPLSASMHNAIKFLNKEITSVGSSKREEEAKSEL
RAAIDRYVQEKIVLAAQAISRFAYQKISNGDVILVYGCSSLVSRILQEAWTEGRRFRVVV
VDSRPWLEGRHTLRSLVHAGVPASYLLIPAASYVLPEVSKVLLGAHALLANGSVMSRVGT
AQLALVARAHNVPVLVCCETYKFCERVQTDAFVSNELDDPDDLQCKRGEHVALANWQNHA
SLRLLNLVYDVTPPELVDLVITELGMIPCSSVPVVLRVKSSDQ
Sequence length 523
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 4, Leukoencephalopathy with vanishing white matter 1 rs113994040, rs113994030, rs113994033, rs113994037, rs113994027, rs113994038 N/A
Show/Hide Text Mining Associations (12)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 36524514
Cognition Disorders Associate 25875391
Dysuria Associate 37981684
Epstein Barr Virus Infections Associate 20958979
Fatigue Syndrome Chronic Associate 16049284
Leukodystrophy Metachromatic Associate 16823698, 20958979, 22952606
Leukoencephalopathies Associate 16823698, 20958979, 35897042, 37981684
Neoplasms Associate 32431053
Neoplasms Cystic Mucinous and Serous Associate 37981684
Neurodegenerative Diseases Associate 25875391