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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TOMM6
translocase of outer mitochondrial membrane 6
Chromosome 6 Β· 6p21.1
NCBI Gene: 100188893Ensembl: ENSG00000214736.9HGNC: HGNC:34528UniProt: Q96B49
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingmitochondrionprotein insertion into mitochondrial outer membranemitochondrial outer membraneneurodegenerative diseasebilirubin metabolism diseaseKimura diseasehepatic veno-occlusive disease-immunodeficiency syndrome
✦AI Summary

TOMM6 is a component of the translocase of the outer mitochondrial membrane (TOM) complex, essential for recognizing and translocating cytosolically synthesized preproteins into mitochondria 1. The TOM complex associates with ion channel VDAC2 and PINK1 kinase at depolarized mitochondria, stabilizing PINK1 at the outer mitochondrial membrane and triggering mitophagy through E3 ubiquitin ligase PRKN recruitment 1. This protein insertion function is critical for mitochondrial protein homeostasis and quality control. TOMM6 expression is dysregulated in disease contexts: it shows positive correlation with superoxide dismutase 1 (SOD1) in Kashin-Beck disease cartilage, suggesting altered mitochondrial function in this endemic arthritis 2. TOMM6 is among hub genes positively correlated with colorectal cancer development, identified through weighted gene co-expression network analysis, indicating potential involvement in cancer-associated metabolic reprogramming 3. Additionally, TOMM6 is upregulated in cisplatin-resistant lung adenocarcinoma cells, correlating with increased lncRNA UCA1 expression 4. These findings suggest TOMM6 dysfunction may contribute to disease pathogenesis through impaired mitochondrial protein import and altered cellular metabolism, representing a potential therapeutic target in cancer and degenerative diseases.

Sources cited
1
TOMM6 is a TOM complex component essential for mitochondrial preprotein translocation and PINK1-mediated mitophagy
PMID: 40080546
2
TOMM6 expression correlates with SOD1 in Kashin-Beck disease cartilage, indicating altered mitochondrial function
PMID: 40507958
3
TOMM6 is a hub gene positively associated with colorectal cancer development
PMID: 32815531
4
TOMM6 is upregulated in cisplatin-resistant lung adenocarcinoma cells with elevated UCA1 expression
PMID: 32249461
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.50Moderate
bilirubin metabolism diseaseOpen Targets
0.05Suggestive
Kimura diseaseOpen Targets
0.03Suggestive
Hepatic veno-occlusive disease - immunodeficiencyOpen Targets
0.03Suggestive
hepatic veno-occlusive disease-immunodeficiency syndromeOpen Targets
0.03Suggestive
dilated cardiomyopathy 1IOpen Targets
0.03Suggestive
smoking initiationOpen Targets
0.03Suggestive
insomniaOpen Targets
0.03Suggestive
sunburnOpen Targets
0.03Suggestive
type 2 diabetes mellitusOpen Targets
0.02Suggestive
bone diseaseOpen Targets
0.02Suggestive
secondary malignant neoplasmOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
adrenal cortex carcinomaOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
diabetic retinopathyOpen Targets
0.00Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.00Suggestive
prostate cancerOpen Targets
0.00Suggestive
testicular carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
TOMM20Protein interaction100%TOMM70Protein interaction100%TOMM40LProtein interaction100%TOMM5Protein interaction81%HIGD2AProtein interaction78%MTX1Protein interaction75%
Tissue Expression4 tissues
Lung
0%
Liver
0%
Bone Marrow
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
TOMM6TOMM20TOMM70TOMM40LTOMM5HIGD2AMTX1
PROTEIN STRUCTURE
Preparing viewer…
PDB7VD2 Β· 2.53 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.72LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.94 [0.51–1.72]
RankingsWhere TOMM6 stands among ~20K protein-coding genes
  • #14,581of 20,598
    Most Researched19
  • #16,218of 17,882
    Most Constrained (LOEUF)1.72
Genes detectedTOMM6
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Integrative Proteome and Transcriptome Analyses Reveal the Metabolic Disturbance of the Articular Cartilage in Kashin-Beck Disease, an Endemic Arthritis.
PMID: 40507958
Int J Mol Sci Β· 2025
1.00
2
Analysis of lncRNA UCA1-related downstream pathways and molecules of cisplatin resistance in lung adenocarcinoma.
PMID: 32249461
J Clin Lab Anal Β· 2020
0.67
3
Identification of key gene modules and genes in colorectal cancer by co-expression analysis weighted gene co-expression network analysis.
PMID: 32815531
Biosci Rep Β· 2020
0.33