TSPO (Translocator Protein) Gene
A key mitochondrial protein involved in steroidogenesis, neuroinflammation, and apoptosis regulation.
Gene Information Card
| Symbol | TSPO |
|---|---|
| Full Name | Translocator Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.2 |
| NCBI Gene ID | 706 ncbi.nlm.nih.gov/gene/706 |
| Ensembl ID | ENSG00000100300 |
| UniProt ID | P30536 |
| OMIM ID | 109610 |
| HGNC ID | 12403 |
| Aliases | PBR, MBR, pk18, BZRP, IBP |
Description
TSPO encodes a high-affinity cholesterol-binding mitochondrial membrane protein that is involved in the transport of cholesterol into mitochondria, a rate-limiting step in steroid hormone biosynthesis. It also plays roles in apoptosis, cell proliferation, and immune modulation. TSPO is widely expressed in peripheral tissues and is upregulated in activated microglia during neuroinflammation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuropsychiatric disorders (e.g., anxiety, depression) | Altered TSPO expression affects neurosteroid synthesis and mitochondrial function | Association studies; PET imaging shows increased TSPO binding in neuroinflammation |
| Cancer (e.g., glioblastoma, breast, prostate) | TSPO overexpression promotes cell proliferation and resistance to apoptosis | Immunohistochemistry; COSMIC mutation data |
| Peripheral inflammatory diseases | TSPO upregulation in activated macrophages modulates cytokine release | Animal models and clinical PET studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal gland | 12.5 | High |
| Lung | 8.2 | Medium |
| Liver | 6.1 | Medium |
| Brain | 3.4 | Low |
| Heart | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression in recombinant systems |
| SH-SY5Y | 7.8 | Neuroblastoma line; moderate expression |
| U87MG | 11.2 | Glioblastoma line; high expression |
| THP-1 | 9.5 | Monocytic line; upregulated upon activation |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs6971 (Ala147Thr) | Missense | ~30% in European populations | Alters ligand binding affinity; associated with anxiety and neuroinflammation response |
| rs3918232 (Arg162His) | Missense | <1% | Unknown functional effect |
| c.314C>T (p.Pro105Leu) | Missense | Rare | Reported in COSMIC; potential loss of function |
Mutation functional classification
Loss of Function (LOF)
rs6971 (Ala147Thr) reduces cholesterol binding and steroidogenesis efficiency.
Gain of Function (GOF)
Not well documented; overexpression in cancer may act as gain-of-function.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005488 - binding | • GO:0015485 - cholesterol binding |
| • GO:0006694 - steroid biosynthetic process | • GO:0006915 - apoptotic process |
| • GO:0005739 - mitochondrion | • GO:0042802 - identical protein binding |
Pathways
• Cholesterol metabolism and steroidogenesis
• Apoptosis - mitochondrial pathway
• Neuroactive ligand-receptor interaction
Protein Summary
TSPO is an 18 kDa transmembrane protein located on the outer mitochondrial membrane. It forms a complex with the voltage-dependent anion channel (VDAC) and adenine nucleotide translocator (ANT) to facilitate cholesterol import. Its expression is induced in response to stress, inflammation, and tissue injury. TSPO is a target for diagnostic imaging (e.g., PET tracers) and therapeutic modulation in neurological and inflammatory diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSPO Knockout HEK293 Cell Line | EDJ-KQ3966 | Human | 706 | Details Get a Quote |
| TSPOAP1 Knockout HEK293 Cell Line | EDJ-KQ6525 | Human | 9256 | Details Get a Quote |
| TSPO2 Knockout HEK293 Cell Line | EDJ-KQ9031 | Human | 222642 | Details Get a Quote |
| TSPO Knockout HeLa Cell Line | EDJ-KQ18157 | Human | 706 | Details Get a Quote |
| TSPO Knockout A-549 Cell Line | EDJ-KQ26243 | Human | 706 | Details Get a Quote |
| TSPO Knockout HCT 116 Cell Line | EDJ-KQ26244 | Human | 706 | Details Get a Quote |
| TSPOAP1 Knockout HeLa Cell Line | EDJ-KQ30681 | Human | 9256 | Details Get a Quote |
| TSPO2 Knockout HeLa Cell Line | EDJ-KQ59194 | Human | 222642 | Details Get a Quote |
| TSPOAP1 Knockout A-549 Cell Line | EDJ-KQ63594 | Human | 9256 | Details Get a Quote |
| TSPO2 Knockout A-549 Cell Line | EDJ-KQ67663 | Human | 222642 | Details Get a Quote |
| TSPOAP1 Knockout HCT 116 Cell Line | EDJ-KQ72059 | Human | 9256 | Details Get a Quote |
| TSPO2 Knockout HCT 116 Cell Line | EDJ-KQ76049 | Human | 222642 | Details Get a Quote |
| TSPO Knockout HAP1 Cell Line | EDC08127 | Human | 706 | Details Get a Quote |
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