SLC25A18
Solute Carrier Family 25 Member 18
Gene Information Card
| Symbol | SLC25A18 |
|---|---|
| Full Name | Solute Carrier Family 25 Member 18 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 83733 ncbi.nlm.nih.gov/gene/83733 |
| Ensembl ID | ENSG00000100216 |
| UniProt ID | Q9H936 |
| OMIM ID | 609304 |
| HGNC ID | 10988 |
| Aliases | GC2, MGC2650 |
Description
SLC25A18 (Solute Carrier Family 25 Member 18) encodes a mitochondrial glutamate carrier (GC2) that mediates the transport of glutamate across the inner mitochondrial membrane. This protein is essential for mitochondrial metabolism, including the malate-aspartate shuttle and urea cycle. It is expressed in various tissues, with highest levels in liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hyperammonemia | Defective glutamate transport impairs urea cycle function, leading to ammonia accumulation | ClinVar, OMIM |
| Mitochondrial complex I deficiency | Altered glutamate metabolism may affect NADH production and electron transport chain | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Brain | 5.1 | Medium |
| Heart | 3.2 | Low |
| Lung | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocyte model |
| HEK293 | 4.5 | Embryonic kidney |
| SH-SY5Y | 3.8 | Neuroblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Potential loss of function |
| c.214C>T | missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Impaired glutamate import into mitochondria, disrupting the malate-aspartate shuttle and urea cycle.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005313 – L-glutamate transmembrane transporter activity | • GO:0015297 – antiporter activity |
| • GO:0005743 – mitochondrial inner membrane | • GO:0006536 – glutamate metabolic process |
| • GO:0055085 – transmembrane transport |
Pathways
• Malate-aspartate shuttle
• Urea cycle
• Glutamate metabolism
Protein Summary
SLC25A18 is a mitochondrial inner membrane protein that functions as a glutamate carrier (GC2). It catalyzes the electrogenic exchange of glutamate for aspartate or other anions, playing a key role in the malate-aspartate shuttle and nitrogen metabolism. The protein is 323 amino acids long and contains three tandem repeats of a mitochondrial carrier domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A18 Knockout HEK293 Cell Line | EDJ-KQ9897 | Human | 83733 | Details Get a Quote |
| SLC25A18 Knockout HeLa Cell Line | EDJ-KQ57475 | Human | 83733 | Details Get a Quote |
| SLC25A18 Knockout A-549 Cell Line | EDJ-KQ65977 | Human | 83733 | Details Get a Quote |
| SLC25A18 Knockout HCT 116 Cell Line | EDJ-KQ74400 | Human | 83733 | Details Get a Quote |
| SLC25A18 Knockout Huh-7 Cell Line | EDC08346 | Human | 83733 | Details Get a Quote |
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