SLC25A2: Solute Carrier Family 25 Member 2
Mitochondrial ornithine transporter involved in the urea cycle and arginine metabolism
Gene Information Card
| Symbol | SLC25A2 |
|---|---|
| Full Name | Solute Carrier Family 25 Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p13.3 |
| NCBI Gene ID | 83884 ncbi.nlm.nih.gov/gene/83884 |
| Ensembl ID | ENSG00000120327 |
| UniProt ID | Q9BXI2 |
| OMIM ID | 608157 |
| HGNC ID | 10983 |
| Aliases | ORNT2, ORC2, SLC25A2 |
Description
SLC25A2 (Solute Carrier Family 25 Member 2) encodes a mitochondrial inner membrane transporter that mediates the exchange of ornithine and citrulline across the mitochondrial membrane. This protein is essential for the urea cycle, allowing ornithine to enter the mitochondria for conversion to citrulline. Defects in this gene can lead to hyperornithinemia and related metabolic disturbances.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hyperornithinemia | Impaired ornithine transport into mitochondria reduces urea cycle flux, causing ornithine accumulation in plasma | ClinVar, OMIM |
| Gyrate Atrophy of Choroid and Retina (possible modifier) | Disrupted ornithine metabolism may exacerbate retinal degeneration in patients with OAT deficiency | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Small Intestine | 6.1 | Low |
| Pancreas | 4.7 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocyte model, high expression |
| HEK293 | 5.8 | Embryonic kidney, moderate expression |
| K562 | 1.3 | Myelogenous leukemia, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.535C>T (p.Arg179Trp) | Missense | <0.01% | Reduced ornithine transport activity |
| c.482G>A (p.Arg161Gln) | Missense | <0.01% | Impaired mitochondrial targeting |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg179Trp) reduce or abolish ornithine transport, leading to hyperornithinemia.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; SLC25A2 functions as a homodimer, but dominant-negative effects have not been documented.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Urea cycle (Reactome R-HSA-70635)
• Mitochondrial ornithine transport (Reactome R-HSA-8866423)
Protein Summary
SLC25A2 is a 301-amino acid mitochondrial carrier protein with six transmembrane domains. It forms a homodimer in the inner mitochondrial membrane and catalyzes the electroneutral exchange of ornithine for citrulline (or H+). This transport is rate-limiting for the urea cycle. The protein is highly expressed in liver and kidney, consistent with its role in nitrogen disposal.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A21 Knockout HEK293 Cell Line | EDJ-KQ1981 | Human | 89874 | Details Get a Quote |
| SLC25A29 Knockout HEK293 Cell Line | EDJ-KQ2594 | Human | 123096 | Details Get a Quote |
| SLC25A20 Knockout HEK293 Cell Line | EDJ-KQ4186 | Human | 788 | Details Get a Quote |
| SLC25A27 Knockout HEK293 Cell Line | EDC08392 | Human | 9481 | Details Get a Quote |
| SLC25A25 Knockout HEK293 Cell Line | EDJ-KQ7460 | Human | 114789 | Details Get a Quote |
| SLC25A24 Knockout HEK293 Cell Line | EDJ-KQ9104 | Human | 29957 | Details Get a Quote |
| SLC25A2 Knockout HEK293 Cell Line | EDJ-KQ9922 | Human | 83884 | Details Get a Quote |
| SLC25A23 Knockout HEK293 Cell Line | EDJ-KQ12172 | Human | 79085 | Details Get a Quote |
| SLC25A22 Knockout HEK293 Cell Line | EDJ-KQ15309 | Human | 79751 | Details Get a Quote |
| SLC25A21 Knockout A-549 Cell Line | EDJ-KQ21957 | Human | 89874 | Details Get a Quote |
| SLC25A21 Knockout HCT 116 Cell Line | EDJ-KQ21958 | Human | 89874 | Details Get a Quote |
| SLC25A21 Knockout HeLa Cell Line | EDJ-KQ21959 | Human | 89874 | Details Get a Quote |
| SLC25A22 Knockout A-549 Cell Line | EDJ-KQ46009 | Human | 79751 | Details Get a Quote |
| SLC25A22 Knockout HCT 116 Cell Line | EDC07823 | Human | 79751 | Details Get a Quote |
| SLC25A22 Knockout HeLa Cell Line | EDJ-KQ46011 | Human | 79751 | Details Get a Quote |
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