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
278948402017Overexpression of MTERF4 promotes the amyloidogenic processing of APP by inhibiting ADAM10.3
278948402017Overexpression of MTERF4 promotes the amyloidogenic processing of APP by inhibiting ADAM10.3
229496732012Structure of the human MTERF4-NSUN4 protein complex that regulates mitochondrial ribosome biogenesis.59
229496732012Structure of the human MTERF4-NSUN4 protein complex that regulates mitochondrial ribosome biogenesis.59

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-(mitochondrial-transcription-termination-factor-4)