TSPO2
Translocator Protein 2
Gene Information Card
| Symbol | TSPO2 |
|---|---|
| Full Name | Translocator Protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 222642 ncbi.nlm.nih.gov/gene/222642 |
| Ensembl ID | ENSG00000198218 |
| UniProt ID | Q5T7P2 |
| OMIM ID | 615678 |
| HGNC ID | 30793 |
| Aliases | BZRP2, MBR2, PKBS2 |
Description
TSPO2 (Translocator Protein 2) is a protein-coding gene located on chromosome 6p21.1. It encodes a mitochondrial membrane protein involved in cholesterol transport and steroidogenesis. TSPO2 is a paralog of TSPO and is primarily expressed in testis and certain cancer cell lines. Its function is linked to the regulation of mitochondrial permeability and apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered TSPO2 expression may affect mitochondrial cholesterol transport and apoptosis | COSMIC database reports somatic mutations in multiple cancer types |
| Male infertility | Potential role in testicular steroidogenesis | OMIM #615678 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Adrenal gland | 2.1 | Low |
| Brain | 0.8 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 8.3 | Moderate expression |
| HeLa | 3.2 | Low expression |
| A549 | 1.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.314C>T (p.Pro105Leu) | Missense | <0.01% | Unknown functional impact |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Predicted damaging (SIFT) |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial outer membrane | • cholesterol binding |
| • transporter activity | • steroid biosynthetic process |
Pathways
• Cholesterol metabolism
• Steroidogenesis
Protein Summary
TSPO2 encodes a 169-amino acid protein with a molecular weight of approximately 18 kDa. It is localized to the mitochondrial outer membrane and contains a conserved cholesterol-binding domain. The protein is thought to facilitate cholesterol import into mitochondria, a rate-limiting step in steroid hormone synthesis. TSPO2 is predominantly expressed in testis and may play a role in male fertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSPO2 Knockout HEK293 Cell Line | EDJ-KQ9031 | Human | 222642 | Details Get a Quote |
| TSPO2 Knockout HeLa Cell Line | EDJ-KQ59194 | Human | 222642 | Details Get a Quote |
| TSPO2 Knockout A-549 Cell Line | EDJ-KQ67663 | Human | 222642 | Details Get a Quote |
| TSPO2 Knockout HCT 116 Cell Line | EDJ-KQ76049 | Human | 222642 | Details Get a Quote |
