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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TOMM22
translocase of outer mitochondrial membrane 22
Chromosome 22 · 22q13.1
NCBI Gene: 56993Ensembl: ENSG00000100216.7HGNC: HGNC:18002UniProt: Q549C5
121PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
ReceptorTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionmitochondrion targeting sequence bindingmembranemitochondrial outer membrane translocase complexAbnormality of the skeletal systemdiverticular diseaseBlackfan-Diamond anemiahereditary persistence of fetal hemoglobin-sickle cell disease syndrome
✦AI Summary

TOMM22 encodes a central receptor component of the translocase of outer mitochondrial membrane (TOM) complex essential for importing nuclear-encoded mitochondrial proteins 1. The protein functions as a transit peptide receptor alongside TOMM20, facilitating the movement of preproteins into the translocation pore for proper mitochondrial protein import 1. TOMM22 is critical for maintaining mitochondrial function, dynamics, and morphology, with its knockdown impairing mitochondrial oxidative function, increasing superoxide production, and disrupting mitochondrial dynamics 2 3. In disease contexts, TOMM22 shows varied significance: it is overexpressed in pancreatic cancer where it promotes aggressive growth by enhancing mitochondrial protein import and respiratory function 1, and has been identified as a candidate gene for late-onset Parkinson's disease 4 5. The protein is specifically required for hepatocyte survival, with mutations causing liver-specific defects in zebrafish models 6. TOMM22 also plays roles in mitophagy regulation and has been implicated in intervertebral disc degeneration as a potential diagnostic biomarker 7. Statin-induced downregulation of TOMM22 contributes to mitochondrial dysfunction in skeletal muscle, potentially explaining statin-induced myopathy 2 3.

Sources cited
1
TOMM22 is a central receptor component of TOM complex essential for mitochondrial protein import and is overexpressed in pancreatic cancer
PMID: 37878010
2
TOMM22 knockdown impairs mitochondrial function, increases superoxide production, and disrupts mitochondrial dynamics
PMID: 37425714
3
TOMM22 has key roles in maintaining mitochondrial dynamics and function, with statin-induced downregulation contributing to myopathy
PMID: 41303460
4
TOMM22 identified as candidate gene for late-onset Parkinson's disease
PMID: 34148545
5
TOMM22 listed among novel PD-associated genes reported since 2019
PMID: 37222843
6
TOMM22 is specifically required for hepatocyte survival with mutations causing liver defects
PMID: 20483998
7
TOMM22 implicated as potential diagnostic biomarker for intervertebral disc degeneration
PMID: 39296040
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.17Weak
diverticular diseaseOpen Targets
0.14Weak
Blackfan-Diamond anemiaOpen Targets
0.08Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.08Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.08Suggestive
inosine triphosphatase deficiencyOpen Targets
0.07Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.07Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.07Suggestive
delta-beta-thalassemiaOpen Targets
0.06Suggestive
Autosomal dominant methemoglobinemiaOpen Targets
0.06Suggestive
hemoglobin D diseaseOpen Targets
0.06Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.06Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.06Suggestive
alpha thalassemia spectrumOpen Targets
0.05Suggestive
Alpha-thalassemiaOpen Targets
0.05Suggestive
beta thalassemiaOpen Targets
0.05Suggestive
Beta-thalassemiaOpen Targets
0.05Suggestive
beta-thalassemia HBB/LCRBOpen Targets
0.05Suggestive
hemolytic anemia due to adenylate kinase deficiencyOpen Targets
0.05Suggestive
lumbar disc degenerationOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TOMM40LProtein interaction99%HSPA9Protein interaction96%SAMM50Protein interaction96%TIMM10Protein interaction96%TIMM9Protein interaction96%TIMM21Protein interaction96%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
Click a node to explore
TOMM22TOMM40LHSPA9SAMM50TIMM10TIMM9TIMM21
PROTEIN STRUCTURE
Preparing viewer…
PDB7VD2 · 2.53 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.46Moderately Constrained
pLIⓘ
0.98Intolerant
Observed/Expected LoF0.18 [0.08–0.46]
RankingsWhere TOMM22 stands among ~20K protein-coding genes
  • #3,902of 20,598
    Most Researched121 · top quartile
  • #2,576of 17,882
    Most Constrained (LOEUF)0.46 · top quartile
Genes detectedTOMM22
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of sixteen novel candidate genes for late onset Parkinson's disease.
PMID: 34148545
Mol Neurodegener · 2021
1.00
2
Recent advances in novel mutation genes of Parkinson's disease.
PMID: 37222843
J Neurol · 2023
0.90
3
Machine learning and single-cell analysis identify the mitophagy-associated gene TOMM22 as a potential diagnostic biomarker for intervertebral disc degeneration.
PMID: 39296040
Heliyon · 2024
0.80
4
The mitochondrial import gene tomm22 is specifically required for hepatocyte survival and provides a liver regeneration model.
PMID: 20483998
Dis Model Mech · 2010
0.70
5
TOMM40 and TOMM22 of the Translocase Outer Mitochondrial Membrane Complex rescue statin-impaired mitochondrial dynamics, morphology, and mitophagy in skeletal myotubes.
PMID: 37425714
bioRxiv · 2023
0.60