• Gene id: 8891

Gene Summary

• Gene Symbol: EIF2B3   Gene   UCSC   Ensembl
• Aliases: EIF-2B, EIF2Bgamma
• Gene name: eukaryotic translation initiation factor 2B subunit gamma
• Alternate names: translation initiation factor eIF-2B subunit gamma, eIF-2B GDP-GTP exchange factor subunit gamma, eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa,
• Gene location: 1p34.1 (44986721: 44850521)     Exons: 14     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 606273

Protein Summary

• Protein general information: Q9NR50  
  • Name: Translation initiation factor eIF 2B subunit gamma (eIF 2B GDP GTP exchange factor subunit gamma)
  • Length: 452  
  • Mass: 50240
• Sequence:

  MEFQAVVMAVGGGSRMTDLTSSIPKPLLPVGNKPLIWYPLNLLERVGFEEVIVVTTRDVQKALCAEFKMKMKPDI
  VCIPDDADMGTADSLRYIYPKLKTDVLVLSCDLITDVALHEVVDLFRAYDASLAMLMRKGQDSIEPVPGQKGKKK
  AVEQRDFIGVDSTGKRLLFMANEADLDEELVIKGSILQKHPRIRFHTGLVDAHLYCLKKYIVDFLMENGSITSIR
  SELIPYLVRKQFSSASSQQGQEEKEEDLKKKELKSLDIYSFIKEANTLNLAPYDACWNACRGDRWEDLSRSQVRC
  YVHIMKEGLCSRVSTLGLYMEANRQVPKLLSALCPEEPPVHSSAQIVSKHLVGVDSLIGPETQIGEKSSIKRSVI
  GSSCLIKDRVTITNCLLMNSVTVEEGSNIQGSVICNNAVIEKGADIKDCLIGSGQRIEAKAKRVNEVIVGNDQLM
  EI

• Structural information:
  • Interpro: IPR005835  IPR029044  
  • PDB: 6CAJ 6EZO 6K71 6K72 6O81 6O85 6O9Z
  • PDBsum: 6CAJ 6EZO 6K71 6K72 6O81 6O85 6O9Z
  • STRING: ENSP00000353575
• Other Databases: GeneCards:  EIF2B3  Malacards:  EIF2B3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002183	cytoplasmic translational initiation	IBA	biological process
GO:0005851	eukaryotic translation initiation factor 2B complex	IBA	cellular component
GO:0032045	guanyl-nucleotide exchange factor complex	IBA	cellular component
GO:0009058	biosynthetic process	IEA	biological process
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
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:0021766	hippocampus development	IEA	biological process
GO:0009749	response to glucose	IEA	biological process
GO:0009408	response to heat	IEA	biological process
GO:0043434	response to peptide hormone	IEA	biological process
GO:0005851	eukaryotic translation initiation factor 2B complex	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0050852	T cell receptor signaling pathway	IDA	biological process
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:0005737	cytoplasm	IDA	cellular component
GO:0008135	translation factor activity, RNA binding	IDA	contributes to
GO:0003743	translation initiation factor activity	IDA	contributes to
GO:0003743	translation initiation factor activity	IDA	contributes to
GO:0006413	translational initiation	IDA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IDA	contributes to
GO:0005515	protein binding	IPI	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IMP	contributes to
GO:0014003	oligodendrocyte development	IMP	biological process
GO:0043434	response to peptide hormone	ISS	biological process
GO:0009749	response to glucose	ISS	biological process
GO:0009408	response to heat	TAS	biological process
GO:0009408	response to heat	ISS	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
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq