MTIF3 (mitochondrial translational initiation factor 3)

2014-11-01  

Identity

HGNC
MTIF3
LOCATION
13q12.2
LOCUSID
219402
ALIAS
IF3mt
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 219402
HGNC: 29788
Ensembl: ENSG00000122033

Variants:

dbSNP: 219402
ClinVar: 219402
TCGA: ENSG00000122033
COSMIC: MTIF3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000122033ENST00000381116Q9H2K0
ENSG00000122033ENST00000381120Q9H2K0
ENSG00000122033ENST00000405591Q9H2K0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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 initiationREACTOMER-HSA-5368286

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
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
262536122015Genetic Predisposition to Weight Loss and Regain With Lifestyle Intervention: Analyses From the Diabetes Prevention Program and the Look AHEAD Randomized Controlled Trials.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
172671212007Mitochondrial translation initiation factor 3 gene polymorphism associated with Parkinson's disease.9
172671212007Mitochondrial translation initiation factor 3 gene polymorphism associated with Parkinson's disease.9
208877762010Mitochondrial translation initiation factor 3 polymorphism and Parkinson's disease.8
208877762010Mitochondrial translation initiation factor 3 polymorphism and Parkinson's disease.8
209760882010Possible involvement of a mitochondrial translation initiation factor 3 variant causing decreased mRNA levels in Parkinson's disease.8
192091882009Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study.4
263376952015rs4771122 Predicts Multiple Measures of Long-Term Weight Loss After Bariatric Surgery.4

Citation

Dessen P

MTIF3 (mitochondrial translational initiation factor 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70552/mtif3