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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TOMM7
translocase of outer mitochondrial membrane 7
Chromosome 7 Β· 7p15.3
NCBI Gene: 54543Ensembl: ENSG00000196683.12HGNC: HGNC:21648UniProt: Q75MR5
24PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingregulation of protein stabilitypositive regulation of protein localization to mitochondrionpositive regulation of type 2 mitophagyGarg-Mishra progeroid syndrometype 2 diabetes mellitusdiabetes mellitusresponse to BCG intravesical immunotherapy
✦AI Summary

TOMM7 encodes a component of the translocase of the outer mitochondrial membrane (TOM) complex that is essential for mitochondrial protein import and mitophagy regulation 1. The protein facilitates recognition and translocation of cytosolically synthesized mitochondrial preproteins into mitochondria 1. TOMM7 plays a crucial role in PINK1/Parkin-mediated mitophagy by regulating intracellular redistribution of phospholipase PLA2G6 between the nucleus and mitochondria 2. Loss-of-function variants in TOMM7 cause severe metabolic reprogramming, shifting cellular energy production from oxidative phosphorylation to glycolysis 3. Disease-causing mutations lead to autosomal recessive progeroid syndrome characterized by severe dwarfism, mandibular hypoplasia, and partial lipodystrophy 1, as well as microcephalic osteodysplastic dwarfism with moyamoya disease 3. TOMM7 dysfunction results in enlarged mitochondria, increased cellular senescence, and defective angiogenesis 3. The gene also shows prognostic significance in multiple myeloma and clear cell renal cell carcinoma, where altered expression correlates with patient outcomes 45.

Sources cited
1
TOMM7 encodes a translocase component essential for mitochondrial protein import and causes progeroid syndrome when mutated
PMID: 36282599
2
TOMM7 regulates PINK1/Parkin-mediated mitophagy through PLA2G6 redistribution
PMID: 41276015
3
TOMM7 mutations cause metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease
PMID: 39615461
4
TOMM7 serves as a prognostic marker in multiple myeloma
PMID: 39726602
5
TOMM7 expression correlates with patient outcomes in clear cell renal cell carcinoma
PMID: 38994370
Disease Associationsβ“˜21
Garg-Mishra progeroid syndromeOpen Targets
0.64Moderate
type 2 diabetes mellitusOpen Targets
0.41Moderate
diabetes mellitusOpen Targets
0.32Weak
response to BCG intravesical immunotherapyOpen Targets
0.30Weak
COVID-19Open Targets
0.30Weak
joint diseaseOpen Targets
0.11Weak
asthmaOpen Targets
0.09Suggestive
ovarian dysfunctionOpen Targets
0.08Suggestive
cervical carcinomaOpen Targets
0.05Suggestive
polycythemia veraOpen Targets
0.05Suggestive
atrial fibrillationOpen Targets
0.04Suggestive
atrial flutterOpen Targets
0.04Suggestive
Varicose veinsOpen Targets
0.04Suggestive
aortic stenosisOpen Targets
0.03Suggestive
albuminuriaOpen Targets
0.03Suggestive
Abruptio PlacentaeOpen Targets
0.03Suggestive
diabetic nephropathyOpen Targets
0.02Suggestive
Miyoshi myopathyOpen Targets
0.02Suggestive
Abnormal sperm morphologyOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
Garg-Mishra progeroid syndromeUniProt
Pathogenic Variants3
NM_019059.5(TOMM7):c.86C>T (p.Pro29Leu)Pathogenic
Garg-Mishra progeroid syndrome|not specified
β˜…β˜†β˜†β˜†2025β†’ Residue 29
NM_019059.5(TOMM7):c.26_29del (p.Lys9fs)Pathogenic
not specified
β˜…β˜†β˜†β˜†2025β†’ Residue 9
NM_019059.5(TOMM7):c.73T>C (p.Trp25Arg)Pathogenic
See cases|Garg-Mishra progeroid syndrome
β˜†β˜†β˜†β˜†2023β†’ Residue 25
View on ClinVar β†—
Related Genes
TIMM8AProtein interaction100%MTX1Protein interaction100%PVRProtein interaction100%MTX2Protein interaction100%IMMTProtein interaction100%TIMM8BProtein interaction100%
Tissue Expression6 tissues
Ovary
100%
Heart
70%
Brain
54%
Lung
52%
Bone Marrow
47%
Liver
42%
Gene Interaction Network
Click a node to explore
TOMM7TIMM8AMTX1PVRMTX2IMMTTIMM8B
PROTEIN STRUCTURE
Preparing viewer…
PDB7VD2 Β· 2.53 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.58LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.86 [0.49–1.58]
RankingsWhere TOMM7 stands among ~20K protein-coding genes
  • #13,335of 20,598
    Most Researched24
  • #4,141of 5,498
    Most Pathogenic Variants3
  • #15,597of 17,882
    Most Constrained (LOEUF)1.58
Genes detectedTOMM7
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Identification and validation of extracellular vesicle reference genes for the normalization of RT-qPCR data.
PMID: 38545822
J Extracell Vesicles Β· 2024
1.00
2
Mitochondrial protein TOMM7 alleviates diabetic kidney disease by regulating mitophagy via intracellular redistribution of phospholipase PLA2G6.
PMID: 41276015
Kidney Int Β· 2026
0.90
3
Mitochondria-associated programmed cell death: elucidating prognostic biomarkers, immune checkpoints, and therapeutic avenues in multiple myeloma.
PMID: 39726602
Front Immunol Β· 2024
0.80
4
Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.
PMID: 39615461
EBioMedicine Β· 2024
0.70
5
[Association of genetic variants in TOMM7 gene and gene environment interaction with type 2 diabetes in Chinese Dong population].
PMID: 25652373
Zhong Nan Da Xue Xue Bao Yi Xue Ban Β· 2015
0.60