Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1933
Gene name	Eukaryotic translation elongation factor 1 beta 2
Gene symbol	EEF1B2
Synonyms (NCBI Gene)	EEF1BEEF1B1EF1B
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

Show/Hide all (34)

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

Show/Hide all (17)

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

MIM	HGNC	e!Ensembl
600655	3208	ENSG00000114942

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

Interactions

View interactions

	Reactome
			Eukaryotic Translation Elongation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Global developmental delay	Pathogenic	rs765917912, rs2105784954	RCV001806458 RCV001806459	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs1576016842	RCV000850165	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Moderate global developmental delay	Pathogenic	rs1576016842	RCV000850165	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Pathogenic	rs1576016842	RCV000850165	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (19)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	34225819	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	20562527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17127214, 20005186	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of lung	Lung carcinoma	BEFREE	29342219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	31845318		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Liver carcinoma	Liver carcinoma	BEFREE	31639400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29342219	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	20562527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29342219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	20562527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	20562527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	20562527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	35864510	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25472873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30370994		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	40016701	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

EEF1B2 (eukaryotic translation elongation factor 1 beta 2)