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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC13A3
solute carrier family 13 member 3
Chromosome 20 Β· 20q13.12
NCBI Gene: 64849Ensembl: ENSG00000158296.14HGNC: HGNC:14430UniProt: B4DF27
37PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
succinate transmembrane transportdicarboxylic acid transportdicarboxylic acid transmembrane transporter activityglutathione transmembrane transportleukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarateneurodegenerative diseaseneuroinflammatory disorderintelligence
✦AI Summary

SLC13A3 functions as a high-affinity sodium-dependent dicarboxylate cotransporter that transports metabolites across cellular membranes with a 3:1 Na+:anion stoichiometry 1. The transporter accepts substrates including citric acid cycle intermediates such as succinate and alpha-ketoglutarate, as well as citrate and glutathione 23. Recent studies have identified SLC13A3 as a key itaconate transporter, importing this immunoregulatory metabolite from macrophages into various cell types 45. In hepatocytes, itaconate uptake via SLC13A3 activates TFEB-dependent lysosomal biogenesis, enhancing antibacterial innate immunity 4. However, in cancer contexts, SLC13A3-mediated itaconate transport promotes immune evasion by activating the NRF2-SLC7A11 pathway, conferring resistance to ferroptosis and immunotherapy 56. In liver cancer, SLC13A3 acts downstream of Ξ²-catenin signaling and regulates glutathione transport, supporting tumor cell survival through mTOR signaling and autophagy resistance 3. SLC13A3 mutations are associated with acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate. The transporter represents a promising therapeutic target for metabolic disorders and cancer, with small molecule inhibitors showing efficacy in preclinical models 37.

Sources cited
1
SLC13A3 functions as a sodium-dependent cotransporter with 3:1 Na+:anion stoichiometry
PMID: 23177988
2
SLC13A3 transports metabolites including succinate, alpha-ketoglutarate, and citrate
PMID: 37277652
3
SLC13A3 is a low-affinity glutathione transporter and acts downstream of Ξ²-catenin in liver cancer
PMID: 39215042
4
SLC13A3 imports itaconate and activates TFEB-dependent lysosomal biogenesis for antibacterial immunity
PMID: 39116875
5
SLC13A3-mediated itaconate transport promotes tumor ferroptosis resistance via NRF2-SLC7A11 pathway
PMID: 39515327
6
Itaconate transport via SLC13A3 stabilizes PD-L1 and promotes immunotherapy resistance
PMID: 39809284
7
SLC13A3 represents a therapeutic target for metabolic disorders with inhibitor development potential
PMID: 36495372
Disease Associationsβ“˜21
leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarateOpen Targets
0.72Strong
neurodegenerative diseaseOpen Targets
0.42Moderate
neuroinflammatory disorderOpen Targets
0.36Weak
intelligenceOpen Targets
0.30Weak
diabetic ketoacidosisOpen Targets
0.27Weak
Abruptio PlacentaeOpen Targets
0.27Weak
brain diseaseOpen Targets
0.27Weak
brain compressionOpen Targets
0.24Weak
edemaOpen Targets
0.24Weak
Parkinson diseaseOpen Targets
0.21Weak
Alzheimer diseaseOpen Targets
0.21Weak
lysosomal storage diseaseOpen Targets
0.21Weak
multiple sclerosisOpen Targets
0.21Weak
chronic kidney diseaseOpen Targets
0.19Weak
systemic lupus erythematosusOpen Targets
0.19Weak
prostate cancerOpen Targets
0.11Weak
Familial prostate cancerOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
acute myeloid leukemiaOpen Targets
0.06Suggestive
liver cancerOpen Targets
0.06Suggestive
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarateUniProt
Pathogenic Variants4
NM_022829.6(SLC13A3):c.795-2_796delLikely pathogenic
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
β˜…β˜†β˜†β˜†2024
NM_022829.6(SLC13A3):c.1478C>T (p.Pro493Leu)Likely pathogenic
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
β˜†β˜†β˜†β˜†2022β†’ Residue 493
NM_022829.6(SLC13A3):c.761C>A (p.Ala254Asp)Pathogenic
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
β˜†β˜†β˜†β˜†2020β†’ Residue 254
NM_022829.6(SLC13A3):c.1642G>A (p.Gly548Ser)Pathogenic
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
β˜†β˜†β˜†β˜†2020β†’ Residue 548
View on ClinVar β†—
Related Genes

No related genes found for this gene.

Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network

No interaction data available for this gene.

PROTEIN STRUCTURE
Preparing viewer…
PDB8UVC Β· 2.09 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.90LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.67 [0.51–0.90]
RankingsWhere SLC13A3 stands among ~20K protein-coding genes
  • #10,691of 20,598
    Most Researched37
  • #3,819of 5,498
    Most Pathogenic Variants4
  • #8,094of 17,882
    Most Constrained (LOEUF)0.90
Genes detectedSLC13A3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Itaconate transporter SLC13A3 impairs tumor immunity via endowing ferroptosis resistance.
PMID: 39515327
Cancer Cell Β· 2024
1.00
2
Itaconate transporter SLC13A3 confers immunotherapy resistance via alkylation-mediated stabilization of PD-L1.
PMID: 39809284
Cell Metab Β· 2025
0.90
3
SLC13A3 is a major effector downstream of activated Ξ²-catenin in liver cancer pathogenesis.
PMID: 39215042
Nat Commun Β· 2024
0.80
4
Itaconate uptake via SLC13A3 improves hepatic antibacterial innate immunity.
PMID: 39116875
Dev Cell Β· 2024
0.70
5
Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.
PMID: 37277652
Nat Genet Β· 2023
0.60