• Gene id: 8890

Gene Summary

• Gene Symbol: EIF2B4   Gene   UCSC   Ensembl
• Aliases: EIF-2B, EIF2B, EIF2Bdelta
• Gene name: eukaryotic translation initiation factor 2B subunit delta
• Alternate names: translation initiation factor eIF-2B subunit delta, eIF-2B GDP-GTP exchange factor subunit delta, eukaryotic translation initiation factor 2B subunit 4 delta, eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa, translation initiation factor e,
• Gene location: 2p23.3 (27370456: 27364351)     Exons: 13     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 617801

Protein Summary

• Protein general information: Q9UI10  
  • Name: Translation initiation factor eIF 2B subunit delta (eIF 2B GDP GTP exchange factor subunit delta)
  • Length: 523  
  • Mass: 57557
• Sequence:

  MAAVAVAVREDSGSGMKAELPPGPGAVGREMTKEEKLQLRKEKKQQKKKRKEEKGAEPETGSAVSAAQCQVGPTR
  ELPESGIQLGTPREKVPAGRSKAELRAERRAKQEAERALKQARKGEQGGPPPKASPSTAGETPSGVKRLPEYPQV
  DDLLLRRLVKKPERQQVPTRKDYGSKVSLFSHLPQYSRQNSLTQFMSIPSSVIHPAMVRLGLQYSQGLVSGSNAR
  CIALLRALQQVIQDYTTPPNEELSRDLVNKLKPYMSFLTQCRPLSASMHNAIKFLNKEITSVGSSKREEEAKSEL
  RAAIDRYVQEKIVLAAQAISRFAYQKISNGDVILVYGCSSLVSRILQEAWTEGRRFRVVVVDSRPWLEGRHTLRS
  LVHAGVPASYLLIPAASYVLPEVSKVLLGAHALLANGSVMSRVGTAQLALVARAHNVPVLVCCETYKFCERVQTD
  AFVSNELDDPDDLQCKRGEHVALANWQNHASLRLLNLVYDVTPPELVDLVITELGMIPCSSVPVVLRVKSSDQ

• Structural information:
  • Interpro: IPR000649  IPR042529  IPR037171  
  • PDB: 6CAJ 6EZO 6K71 6K72 6O81 6O85 6O9Z
  • PDBsum: 6CAJ 6EZO 6K71 6K72 6O81 6O85 6O9Z
  • STRING: ENSP00000394869
• Other Databases: GeneCards:  EIF2B4  Malacards:  EIF2B4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0044237	cellular metabolic process	IEA	biological process
GO:0006412	translation	IEA	biological process
GO:0003743	translation initiation factor activity	IEA	molecular function
GO:0006413	translational initiation	IEA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003743	translation initiation factor activity	IDA	contributes to
GO:0006413	translational initiation	IDA	biological process
GO:0005851	eukaryotic translation initiation factor 2B complex	IDA	cellular component
GO:0005851	eukaryotic translation initiation factor 2B complex	IDA	cellular component
GO:0050852	T cell receptor signaling pathway	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IDA	contributes to
GO:0005515	protein binding	IPI	molecular function
GO:0031369	translation initiation factor binding	ISS	molecular function
GO:0009408	response to heat	TAS	biological process
GO:0009408	response to heat	ISS	biological process
GO:0006417	regulation of translation	NAS	biological process
GO:0043434	response to peptide hormone	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IMP	contributes to
GO:0042552	myelination	IMP	biological process
GO:0014003	oligodendrocyte development	IMP	biological process
GO:0009749	response to glucose	ISS	biological process
GO:0001541	ovarian follicle development	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection
hsa03013	RNA transport

Diseases

Associated diseases	References
Leukoencephalopathy with vanishing white matter	KEGG:H00869
Leukoencephalopathy with vanishing white matter	KEGG:H00869
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray