• Gene id: 1933

Gene Summary

• Gene Symbol: EEF1B2   Gene   UCSC   Ensembl
• Aliases: EEF1B, EEF1B1, EF1B
• Gene name: eukaryotic translation elongation factor 1 beta 2
• Alternate names: elongation factor 1-beta, EF-1-beta, eukaryotic translation elongation factor 1 beta 1,
• Gene location: 2q33.3 (206159593: 206162928)     Exons: 7     NC_000002.12
• Gene summary(Entrez): This gene encodes a translation elongation factor. The protein is a guanine nucleotide exchange factor involved in the transfer of aminoacylated tRNAs to the ribosome. Alternative splicing results in three transcript variants which differ only in the 5' U
• OMIM: 617597

Protein Summary

• Protein general information: P24534  
  • Name: Elongation factor 1 beta (EF 1 beta)
  • Length: 225  
  • Mass: 24764
• Sequence:

  MGFGDLKSPAGLQVLNDYLADKSYIEGYVPSQADVAVFEAVSSPPPADLCHALRWYNHIKSYEKEKASLPGVKKA
  LGKYGPADVEDTTGSGATDSKDDDDIDLFGSDDEEESEEAKRLREERLAQYESKKAKKPALVAKSSILLDVKPWD
  DETDMAKLEECVRSIQADGLVWGSSKLVPVGYGIKKLQIQCVVEDDKVGTDMLEEQITAFEDYVQSMDVAAFNKI

• Structural information:
  • Protein Domains: (2..8-)
    (/note="GST-C-terminal")
  • Interpro: IPR036219  IPR018940  IPR014038  IPR036282  IPR014717   IPR001326  
  • Prosite: PS00824 PS00825
  • CDD: cd00292
  • PDB: 1B64 5DQS
  • PDBsum: 1B64 5DQS
  • STRING: ENSP00000376056
• Other Databases: GeneCards:  EEF1B2  Malacards:  EEF1B2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0006414	translational elongation	IBA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0003746	translation elongation factor activity	IEA	molecular function
GO:0006414	translational elongation	IEA	biological process
GO:0005853	eukaryotic translation elongation factor 1 complex	IEA	cellular component
GO:0003746	translation elongation factor activity	IEA	molecular function
GO:0006412	translation	IEA	biological process
GO:0006414	translational elongation	IEA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006414	translational elongation	TAS	biological process
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:0045471	response to ethanol	IEA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	NOT|cellular component
GO:0005783	endoplasmic reticulum	IDA	colocalizes with
GO:0005737	cytoplasm	IDA	cellular component
GO:0006414	translational elongation	NAS	biological process
GO:0003746	translation elongation factor activity	NAS	molecular function
GO:0005853	eukaryotic translation elongation factor 1 complex	NAS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray