• Gene id: 8892

Gene Summary

• Gene Symbol: EIF2B2   Gene   UCSC   Ensembl
• Aliases: EIF-2Bbeta, EIF2B
• Gene name: eukaryotic translation initiation factor 2B subunit beta
• Alternate names: translation initiation factor eIF-2B subunit beta, S20I15, S20III15, eIF-2B GDP-GTP exchange factor subunit beta, eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa,
• Gene location: 14q24.3 (75002920: 75012365)     Exons: 8     NC_000014.9
• Gene summary(Entrez): This gene encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B). EIF2B is involved in protein synthesis and exchanges GDP and GTP for its activation and deactivation. [provided by RefSeq, Aug 2011]
• OMIM: 606454

Protein Summary

• Protein general information: P49770  
  • Name: Translation initiation factor eIF 2B subunit beta (S20I15) (S20III15) (eIF 2B GDP GTP exchange factor subunit beta)
  • Length: 351  
  • Mass: 38990
• Sequence:

  MPGSAAKGSELSERIESFVETLKRGGGPRSSEEMARETLGLLRQIITDHRWSNAGELMELIRREGRRMTAAQPSE
  TTVGNMVRRVLKIIREEYGRLHGRSDESDQQESLHKLLTSGGLNEDFSFHYAQLQSNIIEAINELLVELEGTMEN
  IAAQALEHIHSNEVIMTIGFSRTVEAFLKEAARKRKFHVIVAECAPFCQGHEMAVNLSKAGIETTVMTDAAIFAV
  MSRVNKVIIGTKTILANGALRAVTGTHTLALAAKHHSTPLIVCAPMFKLSPQFPNEEDSFHKFVAPEEVLPFTEG
  DILEKVSVHCPVFDYVPPELITLFISNIGGNAPSYIYRLMSELYHPDDHVL

• Structural information:
  • Interpro: IPR000649  IPR042529  IPR037171  
  • PDB: 6CAJ 6EZO 6K71 6K72 6O81 6O85 6O9Z
  • PDBsum: 6CAJ 6EZO 6K71 6K72 6O81 6O85 6O9Z
  • STRING: ENSP00000266126
• Other Databases: GeneCards:  EIF2B2  Malacards:  EIF2B2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005085	guanyl-nucleotide exchange factor activity	IBA	contributes to
GO:0005851	eukaryotic translation initiation factor 2B complex	IBA	cellular component
GO:0006413	translational initiation	IBA	biological process
GO:0006446	regulation of translational initiation	IBA	biological process
GO:0044237	cellular metabolic process	IEA	biological process
GO:0003743	translation initiation factor activity	IEA	molecular function
GO:0006412	translation	IEA	biological process
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:0050852	T cell receptor signaling pathway	IDA	biological process
GO:0005851	eukaryotic translation initiation factor 2B complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006413	translational initiation	IDA	biological process
GO:0005851	eukaryotic translation initiation factor 2B complex	IDA	cellular component
GO:0005524	ATP binding	IDA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IDA	contributes to
GO:0005525	GTP binding	IDA	molecular function
GO:0003743	translation initiation factor activity	IDA	contributes to
GO:0042552	myelination	IMP	biological process
GO:0014003	oligodendrocyte development	IMP	biological process
GO:0009749	response to glucose	ISS	biological process
GO:0009408	response to heat	TAS	biological process
GO:0007417	central nervous system development	IMP	biological process
GO:0006446	regulation of translational initiation	TAS	biological process
GO:0001541	ovarian follicle development	IMP	biological process
GO:0009408	response to heat	ISS	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

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
Leukoencephalopathy	PMID:11704758
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq