SLC25A40: Solute Carrier Family 25 Member 40
Mitochondrial carrier protein with roles in metabolism and potential links to disease
Gene Information Card
| Symbol | SLC25A40 |
|---|---|
| Full Name | solute carrier family 25 member 40 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q21.12 |
| NCBI Gene ID | 55972 ncbi.nlm.nih.gov/gene/55972 |
| Ensembl ID | ENSG00000106031 |
| UniProt ID | Q8TBP5 |
| OMIM ID | 610821 |
| HGNC ID | 26026 |
| Aliases | MGC12972, FLJ12650 |
Description
SLC25A40 encodes a member of the solute carrier family 25 (mitochondrial carrier) proteins. These proteins transport various metabolites across the mitochondrial inner membrane. SLC25A40 is predicted to be involved in mitochondrial transport processes, though its specific substrate and physiological function remain under investigation. Expression data suggest roles in metabolism and potential involvement in disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Metabolic disorders | Altered mitochondrial transport may disrupt energy homeostasis | Limited; inferred from family function and expression patterns |
| Cancer | Dysregulated expression observed in some tumor types | COSMIC mutation data; further validation needed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Heart | 6.1 | Low |
| Brain | 4.2 | Low |
| Testis | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocyte model |
| HEK293 | 7.5 | Embryonic kidney |
| K562 | 5.0 | Leukemia line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown |
| c.100C>T | missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Not established for SLC25A40
Gain of Function (GOF)
Not established for SLC25A40
Dominant Negative (DN)
Not established for SLC25A40
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • integral component of membrane (GO:0016021) |
| • mitochondrial phosphate transmembrane transporter activity (GO:0005315) | • transmembrane transport (GO:0055085) |
Pathways
• Mitochondrial transport (Reactome: R-HSA-1268020)
Protein Summary
SLC25A40 is a 298-amino acid mitochondrial carrier protein with six transmembrane domains. It localizes to the inner mitochondrial membrane and is predicted to transport small molecules such as nucleotides or cofactors. Structural homology suggests it belongs to the SLC25 family of antiporters. Its exact substrate and physiological role remain to be fully characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A40 Knockout HEK293 Cell Line | EDJ-KQ15314 | Human | 55972 | Details Get a Quote |
| SLC25A40 Knockout A-549 Cell Line | EDJ-KQ46021 | Human | 55972 | Details Get a Quote |
| SLC25A40 Knockout HCT 116 Cell Line | EDJ-KQ46022 | Human | 55972 | Details Get a Quote |
| SLC25A40 Knockout HeLa Cell Line | EDJ-KQ46023 | Human | 55972 | Details Get a Quote |
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