TSFM (Ts translation elongation factor, mitochondrial)

2014-08-01  

Identity

HGNC
LOCATION
12q14.1
LOCUSID
ALIAS
EFTS,EFTSMT
FUSION GENES

Other Information

Locus ID:

NCBI: 10102
MIM: 604723
HGNC: 12367
Ensembl: ENSG00000123297

Variants:

dbSNP: 10102
ClinVar: 10102
TCGA: ENSG00000123297
COSMIC: TSFM

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000123297ENST00000323833P43897
ENSG00000123297ENST00000417094F8WCK2
ENSG00000123297ENST00000434359C9JG32
ENSG00000123297ENST00000457189C9JT21
ENSG00000123297ENST00000540550P43897
ENSG00000123297ENST00000543727P43897
ENSG00000123297ENST00000548851F8VPA7
ENSG00000123297ENST00000550559F8VS27
ENSG00000123297ENST00000651066A0A494C1M9
ENSG00000123297ENST00000651899A0A494C1D5
ENSG00000123297ENST00000652027P43897
ENSG00000123297ENST00000652027E5KS95

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Mitochondrial translationREACTOMER-HSA-5368287
Mitochondrial translation elongationREACTOMER-HSA-5389840

References

Pubmed IDYearTitleCitations
385783532024Short-term regulation of TSFM level does not alter amyloidogenesis and mitochondrial function in type-specific cells.0
385783532024Short-term regulation of TSFM level does not alter amyloidogenesis and mitochondrial function in type-specific cells.0
276774152016Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy.13
276774152016Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy.13
250372052014Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.15
250372052014Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.15
217419252012Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure.19
217419252012Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure.19
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
170339632006Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.66
170339632006Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.66

Citation

Dessen P

TSFM (Ts translation elongation factor, mitochondrial)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54728/js/lib/favicon/favicon-32x32.png