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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	10102
Gene name	Ts translation elongation factor, mitochondrial
Gene symbol	TSFM
Synonyms (NCBI Gene)	EFTSEFTSMT
Chromosome	12
Chromosome location	12q14.1
Summary	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

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
rs863224936	G>C	Likely-pathogenic	Missense variant, coding sequence variant

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
MIRT1458573	hsa-miR-1224-3p	CLIP-seq
MIRT1458574	hsa-miR-124	CLIP-seq
MIRT1458575	hsa-miR-1299	CLIP-seq
MIRT1458576	hsa-miR-1343	CLIP-seq
MIRT1458577	hsa-miR-198	CLIP-seq
MIRT1458578	hsa-miR-2054	CLIP-seq
MIRT1458579	hsa-miR-2964a-5p	CLIP-seq
MIRT1458580	hsa-miR-3148	CLIP-seq
MIRT1458581	hsa-miR-326	CLIP-seq
MIRT1458582	hsa-miR-330-5p	CLIP-seq
MIRT1458583	hsa-miR-3926	CLIP-seq
MIRT1458584	hsa-miR-4640-5p	CLIP-seq
MIRT1458585	hsa-miR-4691-5p	CLIP-seq
MIRT1458586	hsa-miR-4712-5p	CLIP-seq
MIRT1458587	hsa-miR-4726-5p	CLIP-seq
MIRT1458588	hsa-miR-4753-5p	CLIP-seq
MIRT1458589	hsa-miR-488	CLIP-seq
MIRT1458590	hsa-miR-506	CLIP-seq
MIRT1458591	hsa-miR-520a-5p	CLIP-seq
MIRT1458592	hsa-miR-525-5p	CLIP-seq
MIRT1458593	hsa-miR-548an	CLIP-seq
MIRT1458594	hsa-miR-548n	CLIP-seq
MIRT1458595	hsa-miR-548t	CLIP-seq
MIRT1458596	hsa-miR-593	CLIP-seq
MIRT1458597	hsa-miR-610	CLIP-seq
MIRT1458598	hsa-miR-770-5p	CLIP-seq
MIRT1458599	hsa-miR-875-3p	CLIP-seq
MIRT1458600	hsa-miR-3180-5p	CLIP-seq
MIRT1458601	hsa-miR-3925-5p	CLIP-seq
MIRT1458602	hsa-miR-4653-3p	CLIP-seq
MIRT1458603	hsa-miR-4694-3p	CLIP-seq
MIRT1458591	hsa-miR-520a-5p	CLIP-seq
MIRT1458592	hsa-miR-525-5p	CLIP-seq
MIRT1458604	hsa-miR-589	CLIP-seq
MIRT1458600	hsa-miR-3180-5p	CLIP-seq
MIRT1458601	hsa-miR-3925-5p	CLIP-seq
MIRT1458591	hsa-miR-520a-5p	CLIP-seq
MIRT1458592	hsa-miR-525-5p	CLIP-seq
MIRT1458604	hsa-miR-589	CLIP-seq
MIRT1458600	hsa-miR-3180-5p	CLIP-seq
MIRT1458601	hsa-miR-3925-5p	CLIP-seq
MIRT1458591	hsa-miR-520a-5p	CLIP-seq
MIRT1458592	hsa-miR-525-5p	CLIP-seq
MIRT1458604	hsa-miR-589	CLIP-seq

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
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	7615523
GO:0006412	Process	Translation	IEA
GO:0006414	Process	Translational elongation	IEA
GO:0070013	Component	Intracellular organelle lumen	IEA
GO:0070125	Process	Mitochondrial translational elongation	IBA
GO:0070125	Process	Mitochondrial translational elongation	IDA	27677415
GO:0070125	Process	Mitochondrial translational elongation	TAS	7615523

MIM	HGNC	e!Ensembl
604723	12367	ENSG00000123297

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

159

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	Likely pathogenic; Pathogenic	rs768320625, rs774870834, rs2140413092, rs751169823, rs1955738689, rs750371292, rs372337739, rs2140412540, rs1403882425, rs201754030, rs587777688, rs1955739271, rs772810012, rs121909485, rs2540949104 View all (25 more)	RCV001335749 RCV003463018 RCV003462986 RCV003463037 RCV001785093 RCV003471012 RCV004571443 RCV003464284 RCV003464386 RCV000143783 RCV000143784 RCV002470383 RCV003464572 RCV000005710 RCV003464625 RCV003464617 RCV005614387 RCV003155836 RCV003230786 RCV003464721 RCV003464722 RCV003464723 RCV003464724 RCV003464725 RCV003466475 RCV003466476 RCV003464727 RCV003464728 RCV003466477 RCV003466478 RCV003464730 RCV003464731 RCV003464732 RCV003466479 RCV004573792 RCV004573793 RCV003467806 RCV003462540 RCV001832514 RCV005005085
Primary dilated cardiomyopathy	Likely pathogenic; Pathogenic	rs201754030	RCV000157550

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign; Likely benign	rs112348190	RCV005890877
Combined oxidative phosphorylation deficiency	Uncertain significance	rs886049729	RCV000264166
Encephalomyopathy with respiratory failure and lactic acidosis	Conflicting classifications of pathogenicity; Uncertain significance	rs200132571, rs548510701	RCV001277411 RCV001277410
Nephrotic syndrome, type 21	Conflicting classifications of pathogenicity	rs376562033	RCV004730952
See cases	Uncertain significance; Conflicting classifications of pathogenicity	rs765880033, rs151248026	RCV002252752 RCV002252093
Skeletal myopathy	Uncertain significance	rs869025542	RCV000208279
Thymoma	Benign; Likely benign	rs112348190	RCV005890878
TSFM-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs754595630, rs776948504, rs114694283, rs143207991, rs62000432, rs186621675, rs183575246, rs147317818, rs200132571, rs147609698, rs146777264	RCV003963316 RCV003900492 RCV003915255 RCV004757499 RCV003977633 RCV003904062 RCV003950052 RCV003930321 RCV003957607 RCV003959881 RCV003907937
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs112348190	RCV005890879

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Hypoxia	Associate	29180379
Klinefelter Syndrome	Associate	35622500
Leigh Disease	Associate	25037205
Liver Failure	Associate	21741925
Mitochondrial Diseases	Associate	21169334, 21741925
Mitochondrial Encephalomyopathies	Associate	21741925
Multiple Sclerosis	Associate	20405052, 23160276, 24044605, 36405756, 36759259
Multiple System Atrophy	Associate	25037205
Odontoma	Associate	30911037
Optic Atrophy	Associate	25037205
Peripheral Nervous System Diseases	Associate	25037205

TSFM (Ts translation elongation factor, mitochondrial)