TSFM (Ts translation elongation factor, mitochondrial)

2014-08-01 Affiliation

Identity

HGNC

TSFM

LOCATION

12q14.1

LOCUSID

10102

ALIAS

EFTS,EFTSMT

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000123297	ENST00000323833	P43897
ENSG00000123297	ENST00000417094	F8WCK2
ENSG00000123297	ENST00000434359	C9JG32
ENSG00000123297	ENST00000457189	C9JT21
ENSG00000123297	ENST00000540550	P43897
ENSG00000123297	ENST00000543727	P43897
ENSG00000123297	ENST00000548851	F8VPA7
ENSG00000123297	ENST00000550559	F8VS27
ENSG00000123297	ENST00000651066	A0A494C1M9
ENSG00000123297	ENST00000651899	A0A494C1D5
ENSG00000123297	ENST00000652027	P43897
ENSG00000123297	ENST00000652027	E5KS95

Expression (GTEx)

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

Pathway	Source	External ID
Organelle biogenesis and maintenance	REACTOME	R-HSA-1852241
Mitochondrial translation	REACTOME	R-HSA-5368287
Mitochondrial translation elongation	REACTOME	R-HSA-5389840

References

Pubmed ID	Year	Title	Citations
38578353	2024	Short-term regulation of TSFM level does not alter amyloidogenesis and mitochondrial function in type-specific cells.	0
38578353	2024	Short-term regulation of TSFM level does not alter amyloidogenesis and mitochondrial function in type-specific cells.	0
27677415	2016	Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy.	13
27677415	2016	Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy.	13
25037205	2014	Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.	15
25037205	2014	Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.	15
21741925	2012	Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure.	19
21741925	2012	Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure.	19
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	20
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	20
17033963	2006	Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.	66
17033963	2006	Distinct 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/css/lib/img/logo-atlas-4.svg