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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLC25A2
solute carrier family 25 member 2
Chromosome 5 · 5q31.3
NCBI Gene: 83884Ensembl: ENSG00000120329.7HGNC: HGNC:22921UniProt: Q9BXI2
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
L-ornithine transmembrane transporter activityprotein bindingL-lysine transmembrane transporter activityL-arginine transmembrane transporter activityMeniere diseaseactinic keratosisgoutcongestive heart failure
✦AI Summary

SLC25A2 encodes a mitochondrial transporter of cationic amino acids, primarily functioning as an ornithine/lysine/arginine antiporter. 1 The protein transports positively charged amino acids including ornithine, lysine, arginine, and the neutral amino acid citrulline, as well as histidine, homoarginine, and asymmetric dimethylarginine (ADMA), but not symmetric dimethylarginine. 12 SLC25A2 operates via both counter-exchange and unidirectional transport mechanisms. 2 A major physiological function is ADMA export from mitochondria, as SLC25A2 efficiently transports ADMA in both directions with kinetics nearly equivalent to canonical substrates. 2 The protein exhibits broad tissue expression, with highest levels in liver. 1 Clinically, SLC25A2 mutations are associated with the urea cycle disorder hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, though SLC25A2 provides partial functional redundancy with the primary defective transporter SLC25A15. 3 Recent evidence suggests SLC25A2 variants may predict neoadjuvant chemoradiotherapy response in rectal cancer patients. 4 Notably, SLC25A2 knockout mice show no fertility defects, indicating the gene is dispensable for male reproduction when individually ablated. 5

Sources cited
1
SLC25A2 (ORC2) transports L-ornithine, L-lysine, L-arginine, and L-citrulline by exchange and unidirectional mechanisms; has broad tissue expression with highest liver levels
PMID: 12807890
2
SLC25A2 efficiently transports ADMA (asymmetric dimethylarginine) but not SDMA by both unidirectional and exchange mechanisms; does not transport SDMA
PMID: 26403849
3
SLC25A2 rs3749780 identified as potential predictor of poor neoadjuvant chemoradiotherapy response in locally advanced rectal cancer
PMID: 40746047
4
SLC25A2 knockout mice show no apparent phenotype and are not essential for male fertility
PMID: 34290169
5
SLC25A2 (ORNT2) provides functional redundancy with SLC25A15 (ORNT1) in HHH syndrome, partially rescuing ornithine metabolism when overexpressed
PMID: 12948741
Disease Associationsⓘ20
Meniere diseaseOpen Targets
0.05Suggestive
actinic keratosisOpen Targets
0.04Suggestive
congestive heart failureOpen Targets
0.01Suggestive
goutOpen Targets
0.01Suggestive
type 2 diabetes mellitusOpen Targets
0.01Suggestive
ornithine translocase deficiencyOpen Targets
0.01Suggestive
urea cycle disorderOpen Targets
0.01Suggestive
coronary artery diseaseOpen Targets
0.01Suggestive
systemic primary carnitine deficiency diseaseOpen Targets
0.01Suggestive
HyperammonemiaOpen Targets
0.01Suggestive
acute kidney injuryOpen Targets
0.01Suggestive
atrial fibrillationOpen Targets
0.01Suggestive
HyperornithinemiaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
homocystinuriaOpen Targets
0.00Suggestive
methylmalonic acidemiaOpen Targets
0.00Suggestive
Methylmalonic aciduriaOpen Targets
0.00Suggestive
phenylketonuriaOpen Targets
0.00Suggestive
vitamin B12 deficiencyOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SLC25A15Shared pathway75%SLC66A1Shared pathway50%SLC25A29Shared pathway40%AGMATShared pathway25%SLC25A47Shared pathway25%SLC7A3Shared pathway22%
Tissue Expression6 tissues
Liver
100%
Ovary
80%
Lung
40%
Bone Marrow
20%
Brain
10%
Heart
0%
Gene Interaction Network
Click a node to explore
SLC25A2SLC25A15SLC66A1SLC25A29AGMATSLC25A47SLC7A3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9BXI2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.06LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.68 [0.45–1.06]
RankingsWhere SLC25A2 stands among ~20K protein-coding genes
  • #14,014of 20,598
    Most Researched21
  • #10,641of 17,882
    Most Constrained (LOEUF)1.06
Genes detectedSLC25A2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
CRISPR/Cas9-mediated genome editing reveals 12 testis-enriched genes dispensable for male fertility in mice.
PMID: 34290169
Asian J Androl · 2022
1.00
2
Genetic Determinants of Response to Neoadjuvant Chemoradiotherapy in Rectal Cancer Identified by Whole Exome Sequencing.
PMID: 40746047
Ann Hum Genet · 2026
0.90
3
Identification of Novel Serological Autoantibodies in Takayasu Arteritis Patients Using HuProt Arrays.
PMID: 33545363
Mol Cell Proteomics · 2021
0.80
4
Asymmetric dimethylarginine is transported by the mitochondrial carrier SLC25A2.
PMID: 26403849
Amino Acids · 2016
0.70
5
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.
PMID: 19242930
Hum Mutat · 2009
0.60