SLC25A52: Mitochondrial Solute Carrier and Its Role in Cellular Metabolism
A comprehensive overview of SLC25A52, including gene structure, expression, disease associations, and functional implications.
Gene Information Card
| Symbol | SLC25A52 |
|---|---|
| Full Name | Solute carrier family 25 member 52 |
| Gene Type | protein-coding |
| Chromosomal Location | 18p11.32 |
| NCBI Gene ID | 147407 ncbi.nlm.nih.gov/gene/147407 |
| Ensembl ID | ENSG00000171103 |
| UniProt ID | Q8N5K9 |
| OMIM ID | 616112 |
| HGNC ID | 28342 |
| Aliases | C18orf32, MGC13057 |
Description
SLC25A52 encodes a member of the mitochondrial solute carrier family (SLC25). These proteins are typically localized to the inner mitochondrial membrane and facilitate the transport of various metabolites across this membrane. While the specific substrate of SLC25A52 is not yet fully characterized, its structural similarity to other SLC25 family members suggests a role in mitochondrial metabolism. The gene is located on chromosome 18p11.32 and is expressed in multiple tissues, with notable levels in the liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No direct disease association | Currently, no specific disease has been directly linked to mutations in SLC25A52 in major databases (OMIM, ClinVar). | Based on OMIM and ClinVar entries, no pathogenic variants are curated for this gene. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.4 | Medium |
| Kidney | 10.1 | Medium |
| Testis | 8.3 | Low |
| Brain | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Liver cancer cell line, high expression |
| A549 | 7.8 | Lung carcinoma, moderate expression |
| K562 | 4.5 | Leukemia, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants | N/A | N/A | No pathogenic or likely pathogenic variants are listed in ClinVar for SLC25A52. |
Mutation functional classification
Loss of Function (LOF)
No evidence of loss-of-function mutations in SLC25A52 has been reported in curated databases.
Gain of Function (GOF)
No evidence of gain-of-function mutations in SLC25A52 has been reported.
Dominant Negative (DN)
No evidence of dominant-negative effects for SLC25A52 mutations.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial inner membrane | • transmembrane transport |
| • solute:proton antiporter activity |
Pathways
• Mitochondrial transport
• SLC25 family-mediated transport
Protein Summary
The SLC25A52 protein is a predicted mitochondrial solute carrier with a typical tripartite structure consisting of three tandem repeats of approximately 100 amino acids, each containing a conserved signature motif. It is likely embedded in the inner mitochondrial membrane, where it may participate in the transport of small molecules. However, its exact substrate and physiological function remain to be experimentally determined. The protein is predicted to have six transmembrane helices, consistent with other SLC25 family members.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A52 Knockout HEK293 Cell Line | EDJ-KQ10600 | Human | 147407 | Details Get a Quote |
| SLC25A52 Knockout HeLa Cell Line | EDJ-KQ58573 | Human | 147407 | Details Get a Quote |
| SLC25A52 Knockout A-549 Cell Line | EDJ-KQ67063 | Human | 147407 | Details Get a Quote |
| SLC25A52 Knockout HCT 116 Cell Line | EDJ-KQ75464 | Human | 147407 | Details Get a Quote |
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