SLC25A47: Solute Carrier Family 25 Member 47
Mitochondrial carrier protein with roles in metabolism and potential links to disease
Gene Information Card
| Symbol | SLC25A47 |
|---|---|
| Full Name | Solute Carrier Family 25 Member 47 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.2 |
| NCBI Gene ID | 283537 ncbi.nlm.nih.gov/gene/283537 |
| Ensembl ID | ENSG00000100804 |
| UniProt ID | Q6NUK1 |
| OMIM ID | 616960 |
| HGNC ID | 28633 |
| Aliases | MGC34725, FLJ40488 |
Description
SLC25A47 encodes a member of the SLC25 mitochondrial carrier family. The protein is localized to the inner mitochondrial membrane and is involved in the transport of metabolites. It is expressed in several tissues and may play a role in energy metabolism and mitochondrial function. Variants in this gene have been associated with metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial disease (general) | Impaired mitochondrial transport due to SLC25A47 dysfunction | ClinVar, OMIM |
| Metabolic syndrome | Altered metabolite exchange affecting energy homeostasis | NCBI Gene, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 5.2 | Low |
| Kidney | 3.8 | Low |
| Heart | 2.1 | Low |
| Brain | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 4.0 | Hepatocyte model |
| HEK293 | 2.5 | Embryonic kidney |
| K562 | 1.0 | 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 | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations likely lead to truncated protein and loss of transport activity.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • integral component of membrane (GO:0016021) |
| • mitochondrial phosphate ion transmembrane transporter activity (GO:0005315) | • transmembrane transport (GO:0055085) |
Pathways
• Mitochondrial transport (Reactome: R-HSA-1268020)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
Protein Summary
SLC25A47 is a 298-amino acid mitochondrial carrier protein with six transmembrane domains. It functions as a transporter of small molecules across the inner mitochondrial membrane, contributing to cellular energy homeostasis. Expression is highest in liver and kidney, suggesting roles in gluconeogenesis and ureagenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A47 Knockout HEK293 Cell Line | EDJ-KQ15318 | Human | 283600 | Details Get a Quote |
| SLC25A47 Knockout HeLa Cell Line | EDJ-KQ59405 | Human | 283600 | Details Get a Quote |
| SLC25A47 Knockout A-549 Cell Line | EDJ-KQ67873 | Human | 283600 | Details Get a Quote |
| SLC25A47 Knockout HCT 116 Cell Line | EDJ-KQ76252 | Human | 283600 | Details Get a Quote |
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