TOMM22: Translocase of Outer Mitochondrial Membrane 22
Essential component of the TOM complex for mitochondrial protein import
Gene Information Card
| Symbol | TOMM22 |
|---|---|
| Full Name | Translocase of Outer Mitochondrial Membrane 22 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 56993 ncbi.nlm.nih.gov/gene/56993 |
| Ensembl ID | ENSG00000100216 |
| UniProt ID | Q9NS69 |
| OMIM ID | 608048 |
| HGNC ID | 18002 |
| Aliases | TOM22, MST065, CGI-149 |
Description
TOMM22 encodes the translocase of outer mitochondrial membrane 22, a central receptor component of the TOM (translocase of the outer membrane) complex. This protein is essential for the recognition and import of nuclear-encoded mitochondrial precursor proteins into the mitochondria. It acts as a docking site for cytosolic chaperones and facilitates the transfer of preproteins to the translocation pore.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial import deficiency | Impaired protein translocation due to TOMM22 dysfunction | PMID: 25982116 |
| Neurodegenerative disorders | Reduced mitochondrial import leads to cellular stress | PMID: 30318147 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 10.3 | Medium |
| Brain | 8.7 | Low |
| Kidney | 11.1 | Medium |
| Testis | 9.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical cancer cell line |
| HEK293 | 13.8 | Embryonic kidney cells |
| SH-SY5Y | 11.5 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Reduced protein stability |
| c.124C>T | Nonsense | <0.01% | Premature truncation |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt TOMM22 expression or folding impair mitochondrial import and cause cellular energy deficit.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
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 import into mitochondrial intermembrane space (GO:0045041) |
Pathways
• Mitochondrial protein import (Reactome: R-HSA-1268020)
• TOM complex assembly (Reactome: R-HSA-1268021)
Protein Summary
TOMM22 is a 22 kDa transmembrane protein embedded in the mitochondrial outer membrane. It contains a single transmembrane domain and a cytosolic N-terminal domain that binds mitochondrial targeting signals. As part of the TOM complex, it cooperates with TOMM20 and TOMM40 to mediate the initial steps of mitochondrial protein import. Its expression is ubiquitous but enriched in metabolically active tissues.
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