Property Summary

NCBI Gene PubMed Count 15
PubMed Score 193.74
PubTator Score 40.75

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count
Cardiomyopathy, Dilated 47
Disease Target Count P-value
lung cancer 4473 1.52423214304577E-4
osteosarcoma 7933 0.00302905030146252
group 4 medulloblastoma 1875 0.00354793263777099
psoriasis 6685 0.00400887995770951
adult high grade glioma 2148 0.00520158646014441
ependymoma 2514 0.00718424159772802
aldosterone-producing adenoma 664 0.0115840366121071
Disease Target Count Z-score Confidence
Cardiomyopathy 110 0.0 4.0

Expression

  Differential Expression (7)

Disease log2 FC p
ependymoma -1.200 0.007
psoriasis -1.100 0.004
osteosarcoma -1.955 0.003
lung cancer 1.800 0.000
adult high grade glioma 1.100 0.005
group 4 medulloblastoma -1.100 0.004
aldosterone-producing adenoma -1.393 0.012

Synonym

Accession P43897 B4E391 F5H2T7 Q561V7 Q8TBC2 Q9UQK0 EF-Ts
Symbols EFTS
EFTSMT

Gene

PDB

2CP9  

  Ortholog (10)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Cow OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Anole lizard OMA EggNOG
Xenopus OMA EggNOG Inparanoid
C. elegans OMA EggNOG Inparanoid
Fruitfly OMA EggNOG Inparanoid

Gene RIF (4)

PMID Text
25037205 show that in addition to early-onset cardiomyopathy, TSFM mutations should be considered in childhood and juvenile encephalopathies with optic and/or peripheral neuropathy, ataxia, or Leigh disease
21741925 identified a homozygous mutation changing a highly conserved arginine into a tryptophan (R312W) in a kindred with intrauterine growth retardation, neonatal lactic acidosis, liver dysfunction and multiple respiratory chain deficiency in muscle
20877624 Observational study of gene-disease association. (HuGE Navigator)
17033963 Molecular modeling showed that the Arg333Trp substitution disrupts local subdomain structure and the dimerization interface.

AA Sequence

MSLLRSLRVFLVARTGSYPAGSLLRQSPQPRHTFYAGPRLSASASSKELLMKLRRKTGYSFVNCKKALET      1 - 70
CGGDLKQAEIWLHKEAQKEGWSKAAKLQGRKTKEGLIGLLQEGNTTVLVEVNCETDFVSRNLKFQLLVQQ     71 - 140
VALGTMMHCQTLKDQPSAYSKGFLNSSELSGLPAGPDREGSLKDQLALAIGKLGENMILKRAAWVKVPSG    141 - 210
FYVGSYVHGAMQSPSLHKLVLGKYGALVICETSEQKTNLEDVGRRLGQHVVGMAPLSVGSLDDEPGGEAE    211 - 280
TKMLSQPYLLDPSITLGQYVQPQGVSVVDFVRFECGEGEEAAETE                             281 - 325
//

Text Mined References (23)

PMID Year Title
27677415 2016 Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25037205 2014 Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22681889 2012 The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.
22499341 2012 Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.
21741925 2012 Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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