EEF2 (eukaryotic translation elongation factor 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1938
Gene name Gene Name - the full gene name approved by the HGNC.
Eukaryotic translation elongation factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EEF2
Synonyms (NCBI Gene) Gene synonyms aliases
EEF-2, EF-2, EF2, SCA26
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
130610 3214 ENSG00000167658
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spinocerebellar Ataxia spinocerebellar ataxia type 26 rs587777052 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Neurodevelopmental Disorders neurodevelopmental disorder N/A N/A GenCC
Show/Hide Text Mining Associations (47)
Associations from Text Mining Disease 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