TSFM (Ts translation elongation factor, mitochondrial)

2014-08-01  

Identity

HGNC
TSFM
LOCATION
12q14.1
LOCUSID
10102
ALIAS
EFTS,EFTSMT
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

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

References

Pubmed IDYearTitleCitations
170339632006Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.53
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
217419252012Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure.13
250372052014Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.6
276774152016Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy.5

Citation

Dessen P

TSFM (Ts translation elongation factor, mitochondrial)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54728/tsfm