TOMM40 (translocase of outer mitochondrial membrane 40)

2007-02-01  

Identity

HGNC
TOMM40
LOCATION
19q13.32
LOCUSID
10452
ALIAS
C19orf1,D19S1177E,PER-EC1,PEREC1,TOM40
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10452
MIM: 608061
HGNC: 18001
Ensembl: ENSG00000130204

Variants:

dbSNP: 10452
ClinVar: 10452
TCGA: ENSG00000130204
COSMIC: TOMM40

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130204ENST00000252487O96008
ENSG00000130204ENST00000405636O96008
ENSG00000130204ENST00000426677O96008
ENSG00000130204ENST00000589253K7EKG6
ENSG00000130204ENST00000589649K7EJ57
ENSG00000130204ENST00000592041K7EKG4
ENSG00000130204ENST00000592434O96008

Expression (GTEx)

0
10
20
30
40
50
60
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
Amyotrophic lateral sclerosis (ALS)KEGGko05014
Amyotrophic lateral sclerosis (ALS)KEGGhsa05014
Metabolism of proteinsREACTOMER-HSA-392499
Mitochondrial protein importREACTOMER-HSA-1268020
MitophagyREACTOMER-HSA-5205647
Pink/Parkin Mediated MitophagyREACTOMER-HSA-5205685

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
389782252024BRG1 promotes liver cancer cell proliferation and metastasis by enhancing mitochondrial function and ATP5A1 synthesis through TOMM40.0
389782252024BRG1 promotes liver cancer cell proliferation and metastasis by enhancing mitochondrial function and ATP5A1 synthesis through TOMM40.0
368354942023TOMM40 Genetic Variants Cause Neuroinflammation in Alzheimer's Disease.7
377187962023TOMM40 '523 Genotype Distinguishes Patterns of Cognitive Improvement for Executive Function in APOEɛ3 Homozygotes.0
378046092023Alzheimer's disease cortical morphological phenotypes are associated with TOMM40'523-APOE haplotypes.3
378741112023Genotypic Effects of the TOMM40'523 Variant and APOE on Longitudinal Cognitive Change over 4 Years: The TOMMORROW Study.0
368354942023TOMM40 Genetic Variants Cause Neuroinflammation in Alzheimer's Disease.7
377187962023TOMM40 '523 Genotype Distinguishes Patterns of Cognitive Improvement for Executive Function in APOEɛ3 Homozygotes.0
378046092023Alzheimer's disease cortical morphological phenotypes are associated with TOMM40'523-APOE haplotypes.3
378741112023Genotypic Effects of the TOMM40'523 Variant and APOE on Longitudinal Cognitive Change over 4 Years: The TOMMORROW Study.0
346253072022Definitive roles of TOMM40-APOE-APOC1 variants in the Alzheimer's risk.17
347400772022APOE, TOMM40, and sex interactions on neural network connectivity.8
350932672022Association and interaction of TOMM40 and PVRL2 with plasma amyloid-β and Alzheimer's disease among Chinese older adults: a population-based study.7
359640032022TOMM40 genetic variants associated with healthy aging and longevity: a systematic review.8
363990962022Associations of the APOE ε2 and ε4 alleles and polygenic profiles comprising APOE-TOMM40-APOC1 variants with Alzheimer's disease biomarkers.6

Citation

Dessen P

TOMM40 (translocase of outer mitochondrial membrane 40)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46484/tumors-explorer/gene-fusions/hgnc