Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8890
Gene name	Eukaryotic translation initiation factor 2B subunit delta
Gene symbol	EIF2B4
Synonyms (NCBI Gene)	EIF-2BEIF2BEIF2BdeltaVWM4
Chromosome	2
Chromosome location	2p23.3
Summary	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

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
rs113994038	A>G	Pathogenic	Coding sequence variant, missense variant
rs113994040	A>G	Pathogenic	Coding sequence variant, missense variant

Show/Hide all (2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028435	hsa-miR-30a-5p	Proteomics	18668040
MIRT048246	hsa-miR-196a-5p	CLASH	23622248

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
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	11323413
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	25858979, 27023709
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IMP	15054402
GO:0005515	Function	Protein binding	IPI	15060152, 25416956, 25910212, 28169297, 31515488, 32296183, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IDA	11323413
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005851	Component	Eukaryotic translation initiation factor 2B complex	IBA
GO:0005851	Component	Eukaryotic translation initiation factor 2B complex	IDA	11323413, 15060152, 27023709
GO:0005851	Component	Eukaryotic translation initiation factor 2B complex	IEA
GO:0006412	Process	Translation	IEA
GO:0006413	Process	Translational initiation	IDA	16289705
GO:0006413	Process	Translational initiation	IEA
GO:0006417	Process	Regulation of translation	NAS	12556349
GO:0007417	Process	Central nervous system development	IEA
GO:0009408	Process	Response to heat	ISS
GO:0009408	Process	Response to heat	TAS
GO:0009749	Process	Response to glucose	ISS
GO:0014003	Process	Oligodendrocyte development	IMP	15217090
GO:0031369	Function	Translation initiation factor binding	ISS
GO:0042552	Process	Myelination	IMP	14566705
GO:0043434	Process	Response to peptide hormone	ISS
GO:0048513	Process	Animal organ development	IEA
GO:0050852	Process	T cell receptor signaling pathway	IDA	8626696

MIM	HGNC	e!Ensembl
606687	3260	ENSG00000115211

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

	KEGG		Reactome
	Herpes simplex virus 1 infection		Recycling of eIF2:GDP

102

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Leukoencephalopathy with vanishing white matter 1	Likely pathogenic; Pathogenic	rs1332546889, rs113994030	RCV004785557 RCV004787777
Leukoencephalopathy with vanishing white matter 4	Likely pathogenic; Pathogenic	rs113994033, rs113994037, rs113994027, rs113994038, rs113994040, rs113994039, rs113994036, rs1438809925, rs113994030	RCV003221393 RCV003221395 RCV003221396 RCV003221397 RCV003221398 RCV003448660 RCV003448661 RCV003448662 RCV003492070
Vanishing white matter disease	Likely pathogenic; Pathogenic	rs1682246203, rs113994033, rs113994040, rs2465519163, rs113994030, rs1682104932, rs1682025430, rs1681946262	RCV002266482 RCV005417412 RCV004585985 RCV003331687 RCV001782965 RCV001198840 RCV001256671 RCV001281377

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs184607650	RCV005935023
Cholangiocarcinoma	Benign	rs368817396	RCV005869669
EIF2B4-related disorder	Benign; Likely benign; Uncertain significance	rs41288827, rs376346942, rs148810263, rs560532019, rs753667257, rs984995487, rs780909643, rs113310794	RCV003972419 RCV003946707 RCV003972420 RCV003922449 RCV003893418 RCV003917262 RCV003962312 RCV003922826
Gastric cancer	Benign	rs368817396	RCV005871243
Malignant lymphoma, large B-cell, diffuse	Benign	rs368817396	RCV005869668

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Nevus Epithelioid and Spindle Cell	Associate	32431053
Primary Ovarian Insufficiency	Associate	32962729

EIF2B4 (eukaryotic translation initiation factor 2B subunit delta)