TOMM40 (translocase of outer mitochondrial membrane 40)

2007-02-01  

Identity

HGNC
LOCATION
19q13.32
LOCUSID
ALIAS
C19orf1,D19S1177E,PER-EC1,PEREC1,TOM40
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
201005812010Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort.169
196683392009Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.163
200293862010A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer's disease.149
200293862010A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer's disease.149
256443842015Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53949).107
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
251409022014Influenza A virus protein PB1-F2 translocates into mitochondria via Tom40 channels and impairs innate immunity.64
217843542011The effect of TOMM40 poly-T length on gray matter volume and cognition in middle-aged persons with APOE ε3/ε3 genotype.60
218252362011Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease.56
236267962011A clinical phenotype mimicking essential hypertension in a newly discovered family with Liddle's syndrome.41

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/tomm40