• Gene id: 8893

Gene Summary

• Gene Symbol: EIF2B5   Gene   UCSC   Ensembl
• Aliases: CACH, CLE, EIF-2B, EIF2Bepsilon, LVWM
• Gene name: eukaryotic translation initiation factor 2B subunit epsilon
• Alternate names: translation initiation factor eIF-2B subunit epsilon, eIF-2B GDP-GTP exchange factor subunit epsilon, eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa,
• Gene location: 3q27.1 (184135022: 184145310)     Exons: 17     NC_000003.12
• Gene summary(Entrez): This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other E
• OMIM: 603442

Protein Summary

• Protein general information: Q13144  
  • Name: Translation initiation factor eIF 2B subunit epsilon (eIF 2B GDP GTP exchange factor subunit epsilon)
  • Length: 721  
  • Mass: 80380
• Sequence:

  MAAPVVAPPGVVVSRANKRSGAGPGGSGGGGARGAEEEPPPPLQAVLVADSFDRRFFPISKDQPRVLLPLANVAL
  IDYTLEFLTATGVQETFVFCCWKAAQIKEHLLKSKWCRPTSLNVVRIITSELYRSLGDVLRDVDAKALVRSDFLL
  VYGDVISNINITRALEEHRLRRKLEKNVSVMTMIFKESSPSHPTRCHEDNVVVAVDSTTNRVLHFQKTQGLRRFA
  FPLSLFQGSSDGVEVRYDLLDCHISICSPQVAQLFTDNFDYQTRDDFVRGLLVNEEILGNQIHMHVTAKEYGARV
  SNLHMYSAVCADVIRRWVYPLTPEANFTDSTTQSCTHSRHNIYRGPEVSLGHGSILEENVLLGSGTVIGSNCFIT
  NSVIGPGCHIGDNVVLDQTYLWQGVRVAAGAQIHQSLLCDNAEVKERVTLKPRSVLTSQVVVGPNITLPEGSVIS
  LHPPDAEEDEDDGEFSDDSGADQEKDKVKMKGYNPAEVGAAGKGYLWKAAGMNMEEEEELQQNLWGLKINMEEES
  ESESEQSMDSEEPDSRGGSPQMDDIKVFQNEVLGTLQRGKEENISCDNLVLEINSLKYAYNISLKEVMQVLSHVV
  LEFPLQQMDSPLDSSRYCALLLPLLKAWSPVFRNYIKRAADHLEALAAIEDFFLEHEALGISMAKVLMAFYQLEI
  LAEETILSWFSQRDTTDKGQQLRKNQQLQRFIQWLKEAEEESSEDD

• Structural information:
  • Protein Domains: (543..72-)
    (/note="W2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00695"-)
  • Interpro: IPR016024  IPR035543  IPR001451  IPR016021  IPR029044   IPR011004  IPR003307  
  • Prosite: PS51363
  • CDD: cd04197
  • PDB: 3JUI 6CAJ 6EZO 6K71 6K72 6O81 6O85 6O9Z
  • PDBsum: 3JUI 6CAJ 6EZO 6K71 6K72 6O81 6O85 6O9Z
  • STRING: ENSP00000273783
• Other Databases: GeneCards:  EIF2B5  Malacards:  EIF2B5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031369	translation initiation factor binding	IBA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0005851	eukaryotic translation initiation factor 2B complex	IBA	cellular component
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:0045727	positive regulation of translation	IEA	biological process
GO:0031369	translation initiation factor binding	IEA	molecular function
GO:0021766	hippocampus development	IEA	biological process
GO:0010226	response to lithium ion	IEA	biological process
GO:0009749	response to glucose	IEA	biological process
GO:0009408	response to heat	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0043434	response to peptide hormone	IEA	biological process
GO:0043065	positive regulation of apoptotic process	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:0005829	cytosol	IDA	cellular component
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:0003743	translation initiation factor activity	IDA	contributes to
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:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	NOT|cellular component
GO:0042552	myelination	IMP	biological process
GO:0042552	myelination	IMP	biological process
GO:0031369	translation initiation factor binding	ISS	molecular function
GO:0009749	response to glucose	ISS	biological process
GO:0009408	response to heat	ISS	biological process
GO:0048708	astrocyte differentiation	IMP	biological process
GO:0045948	positive regulation of translational initiation	ISS	biological process
GO:0043434	response to peptide hormone	ISS	biological process
GO:0034976	response to endoplasmic reticulum stress	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0014003	oligodendrocyte development	IMP	biological process
GO:0014002	astrocyte development	IMP	biological process
GO:0009408	response to heat	IMP	biological process
GO:0009408	response to heat	TAS	biological process
GO:0003743	translation initiation factor activity	NAS	molecular function
GO:0001541	ovarian follicle development	IMP	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IMP	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	ISS	molecular function

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881