TOMM20: Translocase of Outer Mitochondrial Membrane 20
Mitochondrial protein import receptor and biomarker in cancer and neurodegeneration
Gene Information Card
| Symbol | TOMM20 |
|---|---|
| Full Name | Translocase of Outer Mitochondrial Membrane 20 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.3 |
| NCBI Gene ID | 9804 ncbi.nlm.nih.gov/gene/9804 |
| Ensembl ID | ENSG00000173726 |
| UniProt ID | Q15388 |
| OMIM ID | 601848 |
| HGNC ID | 11949 |
| Aliases | TOM20, MAS20, MOM19 |
Description
TOMM20 encodes the receptor subunit of the translocase of the outer mitochondrial membrane (TOM) complex. This protein recognizes and imports nuclear-encoded mitochondrial precursor proteins, playing an essential role in mitochondrial biogenesis and function. TOMM20 is widely expressed and has been implicated in cancer progression, neurodegenerative diseases, and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression of TOMM20 enhances mitochondrial import and metabolic reprogramming, promoting tumor growth and survival. | COSMIC; PMID: 25691885 |
| Alzheimer's disease | Reduced TOMM20 levels impair mitochondrial protein import, leading to mitochondrial dysfunction and oxidative stress. | ClinVar; PMID: 28459450 |
| Parkinson's disease | Dysregulation of TOMM20 affects mitochondrial quality control and contributes to dopaminergic neuron loss. | ClinVar; PMID: 30321590 |
| Cardiomyopathy | Altered TOMM20 expression disrupts mitochondrial energy production in cardiac tissue. | OMIM; PMID: 27545680 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 14.5 | High |
| Heart | 12.3 | High |
| Brain | 9.8 | Medium |
| Kidney | 11.1 | High |
| Lung | 8.2 | Medium |
| Skeletal muscle | 15.0 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 16.2 | Cervical cancer cell line |
| HEK293 | 13.8 | Embryonic kidney cell line |
| SH-SY5Y | 10.5 | Neuroblastoma cell line |
| MCF7 | 14.0 | Breast cancer cell line |
| HepG2 | 12.7 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96Gln) | Missense | <0.01% | Reduced protein stability and import efficiency (ClinVar) |
| c.412C>T (p.Pro138Ser) | Missense | <0.01% | Altered receptor binding affinity (COSMIC) |
| c.523_524insA | Frameshift | <0.01% | Loss of function (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the TPR domain impair mitochondrial import.
Gain of Function (GOF)
Not well characterized; overexpression in cancer may act as a gain-of-function by enhancing mitochondrial biogenesis.
Dominant Negative (DN)
Missense mutations in the TPR domain may interfere with wild-type TOMM20 function in heterozygotes.
View complete mutation data：
Gene Ontology (GO)
| • integral component of membrane (GO:0016021) | • mitochondrial outer membrane (GO:0005741) |
| • protein transporter activity (GO:0008565) | • protein targeting to mitochondrion (GO:0006626) |
| • protein transport (GO:0015031) | • protein import into mitochondrial outer membrane (GO:0045040) |
Pathways
• Mitochondrial protein import (KEGG: hsa03060)
• TOM complex assembly (Reactome: R-HSA-1268020)
Protein Summary
TOMM20 is a 16 kDa transmembrane protein anchored in the mitochondrial outer membrane. It contains a tetratricopeptide repeat (TPR) domain that binds the presequence of mitochondrial precursor proteins. As the initial receptor of the TOM complex, TOMM20 transfers substrates to the central channel protein TOMM40. Its expression is essential for mitochondrial homeostasis and is frequently upregulated in cancers to support rapid proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TOMM20L Knockout HEK293 Cell Line | EDJ-KQ15882 | Human | 387990 | Details Get a Quote |
| TOMM20 Knockout HEK293 Cell Line | EDJ-KQ50908 | Human | 9804 | Details Get a Quote |
| TOMM20 Knockout HeLa Cell Line | EDJ-KQ55257 | Human | 9804 | Details Get a Quote |
| TOMM20L Knockout HeLa Cell Line | EDJ-KQ60003 | Human | 387990 | Details Get a Quote |
| TOMM20 Knockout A-549 Cell Line | EDJ-KQ63735 | Human | 9804 | Details Get a Quote |
| TOMM20L Knockout A-549 Cell Line | EDJ-KQ68464 | Human | 387990 | Details Get a Quote |
| TOMM20 Knockout HCT 116 Cell Line | EDJ-KQ72194 | Human | 9804 | Details Get a Quote |
| TOMM20L Knockout HCT 116 Cell Line | EDJ-KQ76842 | Human | 387990 | Details Get a Quote |
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