MTERF4 (mitochondrial transcription termination factor 4)

2014-11-01  

Identity

HGNC
MTERF4
LOCATION
2q37.3
LOCUSID
130916
ALIAS
MTERFD2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 130916
MIM: 615393
HGNC: 28785
Ensembl: ENSG00000122085

Variants:

dbSNP: 130916
ClinVar: 130916
TCGA: ENSG00000122085
COSMIC: MTERF4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000122085ENST00000241527Q7Z6M4
ENSG00000122085ENST00000391980Q7Z6M4
ENSG00000122085ENST00000401626B5MBW3
ENSG00000122085ENST00000406593B4DFP7
ENSG00000122085ENST00000407095B4DKD5
ENSG00000122085ENST00000414146H7C1N9
ENSG00000122085ENST00000424798H7C316
ENSG00000122085ENST00000434791C9JX74
ENSG00000122085ENST00000439144C9JNJ7
ENSG00000122085ENST00000449133H7C3Q3
ENSG00000122085ENST00000495694E7EW93
ENSG00000122085ENST00000614476Q7Z6M4

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
Gene ExpressionREACTOMER-HSA-74160
rRNA processingREACTOMER-HSA-72312
rRNA processing in the mitochondrionREACTOMER-HSA-8868766
rRNA modification in the mitochondrionREACTOMER-HSA-6793080

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
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
229496732012Structure of the human MTERF4-NSUN4 protein complex that regulates mitochondrial ribosome biogenesis.30
278948402017Overexpression of MTERF4 promotes the amyloidogenic processing of APP by inhibiting ADAM10.0

Citation

Dessen P

MTERF4 (mitochondrial transcription termination factor 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70539/mterf4