Gene Gene information from NCBI Gene database.
Entrez ID 7284
Gene name Tu translation elongation factor, mitochondrial
Gene symbol TUFM
Synonyms (NCBI Gene)
COXPD4EF-TuMTEFTUP43
Chromosome 16
Chromosome location 16p11.2
Summary This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has b
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs146326033 T>A,C Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, missense variant
rs863224246 T>C Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
137
miRTarBase ID miRNA Experiments Reference
MIRT050010 hsa-miR-28-5p CLASH 23622248
MIRT049214 hsa-miR-92a-3p CLASH 23622248
MIRT045200 hsa-miR-186-5p CLASH 23622248
MIRT043186 hsa-miR-324-5p CLASH 23622248
MIRT043186 hsa-miR-324-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding ISS
GO:0003723 Function RNA binding HDA 22658674
GO:0003746 Function Translation elongation factor activity IBA
GO:0003746 Function Translation elongation factor activity IDA 9332382
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602389 12420 ENSG00000178952
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P49411
Protein name Elongation factor Tu, mitochondrial (EF-Tu) (EC 3.6.5.3) (P43)
Protein function GTP hydrolase that promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis. Also plays a role in the regulation of autophagy and innate immunity. Recruits ATG5-ATG12 and NLRX1 at mitochondria a
PDB 7A5G , 7O9K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00009 GTP_EFTU 55 249 Elongation factor Tu GTP binding domain Domain
PF03144 GTP_EFTU_D2 272 341 Elongation factor Tu domain 2 Domain
PF03143 GTP_EFTU_D3 345 440 Elongation factor Tu C-terminal domain Domain
Sequence
Sequence length 452
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Combined oxidative phosphorylation defect type 4 Pathogenic; Likely pathogenic rs1057518742, rs1057518743, rs924099073 RCV000412576
RCV000412638
RCV000578247
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
Combined oxidative phosphorylation deficiency Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 34700051 Associate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 11292833, 20413730
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 24560518
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 11292833, 20413730
★☆☆☆☆
Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE Lymphocytic Leukemia BEFREE 15648093
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 17160893 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy, Dilated Cardiomyopathy BEFREE 30903008
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma Pubtator 33299012 Associate
★☆☆☆☆
Found in Text Mining only
Chronic Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 15648093
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease BEFREE 26771213
★☆☆☆☆
Found in Text Mining only