EEF2 (eukaryotic translation elongation factor 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1938
Gene name Eukaryotic translation elongation factor 2
Gene symbol EEF2
Synonyms (NCBI Gene)
EEF-2EF-2EF2SCA26
Chromosome 19
Chromosome location 19p13.3
Summary This gene encodes a member of the GTP-binding translation elongation factor family. This protein is an essential factor for protein synthesis. It promotes the GTP-dependent translocation of the nascent protein chain from the A-site to the P-site of the ri
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs587777052 G>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
636
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (636)
miRTarBase ID miRNA Experiments Reference
MIRT031753 hsa-miR-16-5p Proteomics 18668040
MIRT052441 hsa-let-7a-5p CLASH 23622248
MIRT051895 hsa-let-7b-5p CLASH 23622248
MIRT051895 hsa-let-7b-5p CLASH 23622248
MIRT051895 hsa-let-7b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
63
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (63)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002039 Function P53 binding IEA
GO:0002244 Process Hematopoietic progenitor cell differentiation IEA
GO:0002931 Process Response to ischemia IEA
GO:0003009 Process Skeletal muscle contraction IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
130610 3214 ENSG00000167658
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P13639
Protein name Elongation factor 2 (EF-2) (EC 3.6.5.-)
Protein function Catalyzes the GTP-dependent ribosomal translocation step during translation elongation (PubMed:26593721). During this step, the ribosome changes from the pre-translocational (PRE) to the post-translocational (POST) state as the newly formed A-si
PDB 4V6X , 6D9J , 6Z6M , 6Z6N , 8UKB , 8XSX , 8Y0W , 8Y0X
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00009 GTP_EFTU 17 → 360 Elongation factor Tu GTP binding domain Domain
PF03144 GTP_EFTU_D2 409 → 486 Elongation factor Tu domain 2 Domain
PF14492 EFG_III 501 → 568 Elongation Factor G, domain III Domain
PF03764 EFG_IV 620 → 737 Elongation factor G, domain IV Domain
PF00679 EFG_C 739 → 828 Elongation factor G C-terminus Domain
Sequence 
MVNFTVDQIRAIMDKKANIRNMSVIAHVDHGKSTLTDSLVCKAGIIASARAGETRFTDTR
KDEQERCITIKSTAISLFYELSENDLNFIKQSKDGAGFLINLIDSPGHVDFSSEVTAALR
VTDGALVVVDCVSGVCVQTETVLRQAIAERIKPVLMMNKMDRALLELQLEPEELYQTFQR
IVENVNVIISTYGEGESGPMGNIMIDPVLGTVGFGSGLHGWAFTLKQFAEMYVAKFAAKG
EGQLGPAERAKKVEDMMKKLWGDRYFDPANGKFSKSATSPEGKKLPRTFCQLILDPIFKV
FDAIMNFKKEETAKLIEKLDIKLDSEDKDKEGKPLLKAVMRRWLPAGDALLQMITIHLPS
PVTAQKYRCELLYEGPPDDEAAMGIKSCDPKGPLMMYISKMVPTSDKGRFYAFGRVFSGL
VSTGLKVRIMGPNYTPGKKEDLYLKPIQRTILMMGRYVEPIEDVPCGNIVGLVGVDQFLV
KTGTITTFEHAHNMRVMKFSVSPVVRVAVEAKNPADLPKLVEGLKRLAKSDPMVQCIIEE
SGEHIIAGAGELHLEICLKDLEEDHACIPIKKSDPVVSYRETVSEESNVLCLSKSPNKHN
RLYMKARPFPDGLAEDIDKGEVSARQELKQRARYLAEKYEWDVAEARKIWCFGPDGTGPN
ILTDITKGVQYLNEIKDSVVAGFQWATKEGALCEENMRGVRFDVHDVTLHADAIHRGGGQ
IIPTARRCLYASVLTAQPRLMEPIYLVEIQCPEQVVGGIYGVLNRKRGHVFEESQVAGTP
MFVVKAYLPVNESFGFTADLRSNTGGQAFPQCVFDHWQILPGDPFDNSSRPSQVVAETRK
RKGLKEGIPALDNFLDKL
Sequence length 858
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  AMPK signaling pathway
Oxytocin signaling pathway 		  Peptide chain elongation
Uptake and function of diphtheria toxin
Synthesis of diphthamide-EEF2
Neutrophil degranulation
Protein methylation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
46
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Spinocerebellar ataxia type 26 Likely pathogenic; Pathogenic rs2145355764, rs587777052 RCV002267210
RCV000056312
Show/Hide Unknown Diseases (11)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs147961884, rs371271708 RCV005928534
RCV005910908
Cervical cancer Benign; Likely benign rs147961884, rs111264043 RCV005928535
RCV005934756
EEF2-related disorder Likely benign; Uncertain significance; Benign rs112868528, rs2039692066, rs757785891, rs753598099, rs148771691, rs371674983, rs117017020, rs374126801, rs3816321, rs2230565, rs147759681, rs146823249, rs2230566, rs34017760, rs2230561
View all (1 more)		 RCV003946430
RCV005626818
RCV003919267
RCV003916952
RCV003914330
RCV003939339
RCV003942687
RCV003953253
RCV003953252
RCV003953251
RCV003918549
RCV003930609
RCV003958097
RCV003963182
RCV003973187
RCV003983872
RCV003963188
EEF2-related Neurodevelopmental disorder Uncertain significance rs2145361569 RCV002275566
Show/Hide Text Mining Associations (47)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Lung Injury Associate 32881411
Adenocarcinoma of Lung Associate 21554491
Alzheimer Disease Associate 26512942
Autism Spectrum Disorder Associate 37159414
Breast Neoplasms Associate 16648488
Burnett Schwartz Berberian syndrome Associate 37159414
Carcinoma Hepatocellular Associate 28060762
Cardiomegaly Associate 37159414
Cardiomyopathy Dilated Associate 28427148
Cerebellar Ataxia Associate 33355653