TEFM (transcription elongation factor, mitochondrial)

2014-11-01  

Identity

HGNC
TEFM
LOCATION
17q11.2
LOCUSID
79736
ALIAS
C17orf42
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79736
MIM: 616422
HGNC: 26223
Ensembl: ENSG00000172171

Variants:

dbSNP: 79736
ClinVar: 79736
TCGA: ENSG00000172171
COSMIC: TEFM

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172171ENST00000306049Q96QE5
ENSG00000172171ENST00000580840J3KTG7
ENSG00000172171ENST00000581216Q96QE5

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
212781632011TEFM (c17orf42) is necessary for transcription of human mtDNA.62
256350992015Mitochondrial biology. Replication-transcription switch in human mitochondria.51
256908922015TEFM is a potent stimulator of mitochondrial transcription elongation in vitro.31
290331272017Mechanism of Transcription Anti-termination in Human Mitochondria.16
192917642009RNF135 mutations are not present in patients with Sotos syndrome-like features.2

Citation

Dessen P

TEFM (transcription elongation factor, mitochondrial)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74613/tefm