EEF1B2 (eukaryotic translation elongation factor 1 beta 2)

Gene

• Entrez ID: 1933
• Gene name: Eukaryotic translation elongation factor 1 beta 2
• Gene symbol: EEF1B2
• Synonyms (NCBI Gene): EEF1B, EEF1B1, EF1B
• Chromosome: 2
• Chromosome location: 2q33.3
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050124	hsa-miR-26a-5p	CLASH	23622248
MIRT045403	hsa-miR-149-5p	CLASH	23622248
MIRT043864	hsa-miR-378a-3p	CLASH	23622248
MIRT650600	hsa-miR-548m	HITS-CLIP	23824327
MIRT650599	hsa-miR-548ag	HITS-CLIP	23824327
MIRT650598	hsa-miR-548ai	HITS-CLIP	23824327
MIRT650597	hsa-miR-548ba	HITS-CLIP	23824327
MIRT650596	hsa-miR-570-5p	HITS-CLIP	23824327
MIRT650600	hsa-miR-548m	HITS-CLIP	23824327
MIRT650599	hsa-miR-548ag	HITS-CLIP	23824327
MIRT650598	hsa-miR-548ai	HITS-CLIP	23824327
MIRT650597	hsa-miR-548ba	HITS-CLIP	23824327
MIRT650596	hsa-miR-570-5p	HITS-CLIP	23824327
MIRT953110	hsa-miR-1246	CLIP-seq
MIRT953111	hsa-miR-2392	CLIP-seq
MIRT953112	hsa-miR-3134	CLIP-seq
MIRT953113	hsa-miR-4659a-5p	CLIP-seq
MIRT953114	hsa-miR-4659b-5p	CLIP-seq
MIRT953115	hsa-miR-640	CLIP-seq
MIRT953116	hsa-miR-665	CLIP-seq
MIRT953110	hsa-miR-1246	CLIP-seq
MIRT953111	hsa-miR-2392	CLIP-seq
MIRT953112	hsa-miR-3134	CLIP-seq
MIRT953113	hsa-miR-4659a-5p	CLIP-seq
MIRT953114	hsa-miR-4659b-5p	CLIP-seq
MIRT953115	hsa-miR-640	CLIP-seq
MIRT953116	hsa-miR-665	CLIP-seq
MIRT953110	hsa-miR-1246	CLIP-seq
MIRT953111	hsa-miR-2392	CLIP-seq
MIRT953112	hsa-miR-3134	CLIP-seq
MIRT953113	hsa-miR-4659a-5p	CLIP-seq
MIRT953114	hsa-miR-4659b-5p	CLIP-seq
MIRT953115	hsa-miR-640	CLIP-seq
MIRT953116	hsa-miR-665	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003746	Function	Translation elongation factor activity	IEA
GO:0003746	Function	Translation elongation factor activity	NAS	1886777
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005515	Function	Protein binding	IPI	16169070, 16189514, 25416956, 25959826, 28514442, 32296183, 32814053, 33961781, 35271311
GO:0005634	Component	Nucleus	IDA	12426392
GO:0005737	Component	Cytoplasm	IDA	8743958, 12426392
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	8743958
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005853	Component	Eukaryotic translation elongation factor 1 complex	IEA
GO:0005853	Component	Eukaryotic translation elongation factor 1 complex	NAS	1886777
GO:0006412	Process	Translation	IEA
GO:0006414	Process	Translational elongation	IBA
GO:0006414	Process	Translational elongation	IEA
GO:0006414	Process	Translational elongation	NAS	1886777
GO:0045471	Process	Response to ethanol	IEA

Other IDs

• MIM: 600655
• HGNC: 3208
• e!Ensembl: ENSG00000114942

Protein

• UniProt ID: P24534
• Protein name: Elongation factor 1-beta (EF-1-beta) (eEF-1B alpha)
• Protein function: Catalytic subunit of the guanine nucleotide exchange factor (GEF) (eEF1B subcomplex) of the eukaryotic elongation factor 1 complex (eEF1) (By similarity). Stimulates the exchange of GDP for GTP on elongation factor 1A (eEF1A), probably by displa
• PDB: 1B64, 5DQS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10587	EF-1_beta_acid	103 → 130	Eukaryotic elongation factor 1 beta central acidic region	Domain
  PF00736	EF1_GNE	141 → 225	EF-1 guanine nucleotide exchange domain	Domain

• Sequence:

  MGFGDLKSPAGLQVLNDYLADKSYIEGYVPSQADVAVFEAVSSPPPADLCHALRWYNHIK
  SYEKEKASLPGVKKALGKYGPADVEDTTGSGATDSKDDDDIDLFGSDDEEESEEAKRLRE
  ERLAQYESKKAKKPALVAKSSILLDVKPWDDETDMAKLEECVRSIQADGLVWGSSKLVPV
  GYGIKKLQIQCVVEDDKVGTDMLEEQITAFEDYVQSMDVAAFNKI

• Sequence length: 225

Pathways

Reactome:

Eukaryotic Translation Elongation

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Global developmental delay	Pathogenic	rs765917912, rs2105784954	RCV001806458 RCV001806459
Intellectual disability	Pathogenic	rs1576016842	RCV000850165
Moderate global developmental delay	Pathogenic	rs1576016842	RCV000850165
Seizure	Pathogenic	rs1576016842	RCV000850165

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Associate	34225819
Breast Neoplasms	Associate	17127214, 20005186
Lung Neoplasms	Associate	29342219
Myocardial Infarction	Associate	35864510
Neoplasms	Associate	27225414
Neoplasms	Stimulate	29342219
Sarcoma Kaposi	Associate	40016701