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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TOMM5
translocase of outer mitochondrial membrane 5
Chromosome 9 · 9p13.2
NCBI Gene: 401505Ensembl: ENSG00000175768.14HGNC: HGNC:31369UniProt: Q8N4H5
27PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionmitochondrial outer membrane translocase complexprotein insertion into mitochondrial outer membranemitochondrial outer membraneneurodegenerative diseaseduodenitisCongenital pulmonary alveolar proteinosisidiopathic CD4 lymphocytopenia
✦AI Summary

TOMM5 is a component of the translocase of the outer mitochondrial membrane (TOM) complex, which is essential for recognizing and translocating cytosolically synthesized mitochondrial preproteins into mitochondria 1. The protein plays a critical role in PINK1-mediated mitophagy, where TOM complex components including TOMM5 are required for PINK1 retention on the mitochondrial surface during mitochondrial damage sensing 1. When mitochondria lose membrane potential due to damage, PINK1 import is stalled during transfer from TOM to TIM23, causing accumulation at the outer membrane where it can trigger downstream mitophagy pathways 1. TOMM5 deficiency in mice causes a lung-specific phenotype resembling cryptogenic organizing pneumonia, characterized by widespread intra-alveolar fibrosis and inflammatory cell infiltration 2. The gene has emerged as a potential biomarker in several disease contexts, including hepatocellular carcinoma prognosis prediction 3, intervertebral disc degeneration diagnosis 4, and polycystic ovary syndrome 5. Additionally, TOMM5 expression shows altered ribosome occupancy patterns in Huntington disease models, suggesting involvement in mitochondrial translation regulation 6.

Sources cited
1
TOMM5 is required for PINK1 retention on mitochondrial surface during damage sensing and mitophagy
PMID: 41266657
2
TOMM5 knockout mice develop lung-specific pathology resembling cryptogenic organizing pneumonia
PMID: 22688586
3
TOMM5 is part of a 3-gene risk signature for HCC prognosis prediction
PMID: 37114494
4
TOMM5 identified as key autophagy-related diagnostic marker for intervertebral disc degeneration
PMID: 38041088
5
TOMM5 recognized as potential biomarker gene in polycystic ovary syndrome
PMID: 39043888
6
TOMM5 shows altered ribosome occupancy in Huntington disease striatal cell models
PMID: 38447791
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.15Weak
duodenitisOpen Targets
0.05Suggestive
Congenital pulmonary alveolar proteinosisOpen Targets
0.04Suggestive
idiopathic CD4 lymphocytopeniaOpen Targets
0.04Suggestive
Chronic mucocutaneous candidosisOpen Targets
0.04Suggestive
immunodeficiency 51Open Targets
0.04Suggestive
immunodeficiency 75Open Targets
0.04Suggestive
osteoporosis-pseudoglioma syndromeOpen Targets
0.04Suggestive
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaOpen Targets
0.04Suggestive
pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9Open Targets
0.04Suggestive
Nezelof syndromeOpen Targets
0.04Suggestive
Thymic aplasiaOpen Targets
0.04Suggestive
Neonatal acute respiratory distress with surfactant metabolism deficiencyOpen Targets
0.03Suggestive
X-Linked Combined Immunodeficiency DiseasesOpen Targets
0.03Suggestive
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominantOpen Targets
0.03Suggestive
immunodeficiency 78 with autoimmunity and developmental delayOpen Targets
0.03Suggestive
interstitial lung disease 1Open Targets
0.03Suggestive
bronchiolitis obliteransOpen Targets
0.03Suggestive
sarcoidosisOpen Targets
0.03Suggestive
primary ciliary dyskinesiaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
IMMTProtein interaction100%SAMM50Protein interaction100%CHCHD3Protein interaction100%MFN1Protein interaction100%DNAJC11Protein interaction100%APOOProtein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
85%
Bone Marrow
83%
Liver
79%
Ovary
67%
Lung
63%
Gene Interaction Network
Click a node to explore
TOMM5IMMTSAMM50CHCHD3MFN1DNAJC11APOO
PROTEIN STRUCTURE
Preparing viewer…
PDB7VD2 · 2.53 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.28LoF Tolerant
pLIⓘ
0.44Tolerant
Observed/Expected LoF0.28 [0.10–1.28]
RankingsWhere TOMM5 stands among ~20K protein-coding genes
  • #12,697of 20,598
    Most Researched27
  • #13,520of 17,882
    Most Constrained (LOEUF)1.28
Genes detectedTOMM5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Intratumoral microbial heterogeneity affected tumor immune microenvironment and determined clinical outcome of HBV-related HCC.
PMID: 37114494
Hepatology · 2023
1.00
2
A unified mechanism for mitochondrial damage sensing in PINK1-Parkin-mediated mitophagy.
PMID: 41266657
EMBO J · 2026
0.90
3
Diagnostic model based on key autophagy-related genes in intervertebral disc degeneration.
PMID: 38041088
BMC Musculoskelet Disord · 2023
0.80
4
Cryptogenic organizing pneumonia in Tomm5(-/-) mice.
PMID: 22688586
Vet Pathol · 2013
0.70
5
Ribosome Profiling and Mass Spectrometry Reveal Widespread Mitochondrial Translation Defects in a Striatal Cell Model of Huntington Disease.
PMID: 38447791
Mol Cell Proteomics · 2024
0.60