Property Summary

NCBI Gene PubMed Count 15
Grant Count 21
R01 Count 16
Funding $1,564,391.68
PubMed Score 193.74
PubTator Score 40.75

Knowledge Summary

Patent

No data available

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

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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