TSFM (Ts translation elongation factor, mitochondrial)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10102
Gene name Gene Name - the full gene name approved by the HGNC.
Ts translation elongation factor, mitochondrial
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TSFM
Synonyms (NCBI Gene) Gene synonyms aliases
EFTS, EFTSMT
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q14.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mu
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs121909485 C>T Pathogenic, likely-pathogenic Missense variant, coding sequence variant, intron variant, 3 prime UTR variant
rs138534976 G>C Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, intron variant, coding sequence variant
rs201754030 C>T Pathogenic, conflicting-interpretations-of-pathogenicity 3 prime UTR variant, intron variant, stop gained, coding sequence variant
rs376562033 C>G,T Likely-pathogenic Intron variant, missense variant, 3 prime UTR variant, coding sequence variant
rs587777688 G>A Likely-pathogenic, pathogenic Coding sequence variant, missense variant, intron variant, 3 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(49)
miRTarBase ID miRNA Experiments Reference
MIRT029759 hsa-miR-26b-5p Microarray 19088304
MIRT050350 hsa-miR-25-3p CLASH 23622248
MIRT050350 hsa-miR-25-3p CLASH 23622248
MIRT043452 hsa-miR-331-3p CLASH 23622248
MIRT036967 hsa-miR-877-3p 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 Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22681889
GO:0003746 Function Translation elongation factor activity IBA
GO:0003746 Function Translation elongation factor activity IEA
GO:0005515 Function Protein binding IPI 25910212, 32296183
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604723 12367 ENSG00000123297
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID P43897
Protein name Elongation factor Ts, mitochondrial (EF-Ts) (EF-TsMt)
Protein function Associates with the EF-Tu.GDP complex and induces the exchange of GDP to GTP. It remains bound to the aminoacyl-tRNA.EF-Tu.GTP complex up to the GTP hydrolysis stage on the ribosome. {ECO:0000255|HAMAP-Rule:MF_03135, ECO:0000269|PubMed:27677415}
PDB 2CP9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00889 EF_TS 116 → 274 Elongation factor TS Family
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues, with the highest levels of expression in skeletal muscle, liver and kidney.
Sequence 
MSLLRSLRVFLVARTGSYPAGSLLRQSPQPRHTFYAGPRLSASASSKELLMKLRRKTGYS
FVNCKKALETCGGDLKQAEIWLHKEAQKEGWSKAAKLQGRKTKEGLIGLLQEGNTTVLVE
VNCETDFVSRNLKFQLLVQQVALGTMMHCQTLKDQPSAYSKGFLNSSELSGLPAGPDREG
SLKDQLALAIGKLGENMILKRAAWVKVPSGFYVGSYVHGAMQSPSLHKLVLGKYGALVIC
ETSEQKTNLEDVGRRLGQHVVGMAPLSVGSLDDEPGGEAETKMLSQPYLLDPSITLGQYV
QPQGVSVVDFVRFECGEGEEAAETE
Sequence length 325
Interactions View interactions
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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 Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Fatal Mitochondrial Disease fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 rs121909485, rs201754030, rs587777688, rs1955600413, rs373811833, rs1491203033 N/A
Cardiomyopathy Primary dilated cardiomyopathy rs201754030 N/A
Show/Hide Unknown Diseases (4)
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
combined oxidative phosphorylation deficiency Combined oxidative phosphorylation deficiency N/A N/A ClinVar
Leigh Syndrome Leigh syndrome N/A N/A GenCC
Multiple Sclerosis Multiple sclerosis N/A N/A GWAS
Sarcoidosis Sarcoidosis N/A N/A GWAS
Show/Hide Text Mining Associations (21)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Associate 27677415
Ataxia Associate 25037205, 27677415
Brain Diseases Associate 25037205
Carcinoma Hepatocellular Associate 29180379
Cardiomyopathies Associate 25037205, 27677415, 30911037
Cardiomyopathy Hypertrophic Associate 21741925, 27677415
Congenital Abnormalities Associate 17033963
Eagle syndrome Associate 25037205
Epilepsy Familial Mesial Temporal Lobe Associate 28485803
Hereditary Motor And Sensory Neuropathy VI Associate 25037205