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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLC6A14
solute carrier family 6 member 14
Chromosome X · Xq23
NCBI Gene: 11254Ensembl: ENSG00000268104.4HGNC: HGNC:11047UniProt: B2R8J1
41PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
beta-alanine transmembrane transporter activityaromatic amino acid transmembrane transporter activityneutral, basic amino acid:sodium:chloride symporter activitybranched-chain amino acid:sodium symporter activitycystic fibrosisobesitycystic fibrosis associated meconium ileusulcerative colitis
✦AI Summary

SLC6A14 is a Na+/Cl−-dependent amino acid transporter that mediates uptake of neutral and cationic amino acids (particularly leucine and lysine) across the intestinal epithelium and other cell types 1. The transporter also accepts non-alpha amino acids like beta-alanine and carnitine species 23. Beyond its classical absorptive function, SLC6A14 has emerged as a multifactorial disease modifier. In cystic fibrosis, it exhibits pleiotropic effects on meconium ileus occurrence, lung disease severity, and P. aeruginosa infection timing 4. In ulcerative colitis, SLC6A14 upregulation correlates with disease markers and promotes NLRP3 inflammasome-mediated pyroptosis in intestinal epithelial cells, while reducing SLC6A14 suppresses inflammatory responses 56. Mechanistically, SLC6A14-mediated glutamine uptake supports macrophage IL-1β secretion through histone phosphorylation pathways 7. In cancer contexts, elevated SLC6A14 promotes glutamine-driven oxidative phosphorylation and cancer stemness in early-onset breast cancer 8, facilitates gemcitabine resistance and immune evasion in pancreatic cancer via mTOR/NF-κB signaling 9, and supports bladder cancer progression through histone lactylation 10. These findings identify SLC6A14 as a therapeutic target across inflammatory and malignant diseases.

Sources cited
1
SLC6A14 mediates Na+/Cl−-dependent uptake of neutral and cationic amino acids
PMID: 10446133
2
SLC6A14 transports beta-alanine with low affinity and has higher affinity for leucine and lysine
PMID: 18599538
3
SLC6A14 transports carnitine species coupled to Na+ and Cl− gradients
PMID: 17855766
4
SLC6A14 is a genetic modifier of cystic fibrosis disease severity affecting meconium ileus, lung disease, and P. aeruginosa infection
PMID: 32166393
5
SLC6A14 promotes ulcerative colitis progression by facilitating NLRP3 inflammasome-mediated pyroptosis
PMID: 38314135
6
SLC6A14 is a signature biomarker in ulcerative colitis associated with immune infiltration and disease severity
PMID: 38070204
7
SLC6A14-mediated asparagine uptake orchestrates macrophage inflammation through histone phosphorylation and LKB1 signaling
PMID: 40203093
8
SLC6A14 promotes cancer stemness and early-onset breast cancer through glutamine-driven oxidative phosphorylation
PMID: 40959920
9
SLC6A14-mediated glutamine metabolism drives gemcitabine resistance and immune evasion in pancreatic cancer via mTOR/NF-κB signaling
PMID: 41444422
10
SLC6A14 promotes bladder cancer progression through glutamine catabolism and histone lactylation
PMID: 40808274
Disease Associationsⓘ20
cystic fibrosisOpen Targets
0.39Weak
obesityOpen Targets
0.38Weak
cystic fibrosis associated meconium ileusOpen Targets
0.32Weak
ulcerative colitisOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.09Suggestive
pachyonychia congenitaOpen Targets
0.09Suggestive
Blackfan-Diamond anemiaOpen Targets
0.08Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.08Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.08Suggestive
lung disease associated with cystic fibrosisOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
inosine triphosphatase deficiencyOpen Targets
0.07Suggestive
cerebral creatine deficiency syndromeOpen Targets
0.07Suggestive
cancerOpen Targets
0.07Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.07Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.07Suggestive
Autosomal dominant methemoglobinemiaOpen Targets
0.06Suggestive
alpha-thalassemia-myelodysplastic syndromeOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SLC1A5Protein interaction94%SLC6A20Shared pathway42%SLC6A12Shared pathway40%SLC6A19Shared pathway36%SLC6A6Shared pathway36%SLC6A16Shared pathway33%
Tissue Expression6 tissues
Lung
100%
Brain
0%
Liver
0%
Ovary
0%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
SLC6A14SLC1A5SLC6A20SLC6A12SLC6A19SLC6A6SLC6A16
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9UN76
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.59Moderately Constrained
pLIⓘ
0.31Tolerant
Observed/Expected LoF0.41 [0.29–0.59]
RankingsWhere SLC6A14 stands among ~20K protein-coding genes
  • #10,088of 20,598
    Most Researched41
  • #3,987of 17,882
    Most Constrained (LOEUF)0.59 · top quartile
Genes detectedSLC6A14
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Biomarkers prediction and immune landscape in ulcerative colitis: Findings based on bioinformatics and machine learning.
PMID: 38070204
Comput Biol Med · 2024
1.00
2
Asparagine transporter supports macrophage inflammation via histone phosphorylation.
PMID: 40203093
Sci Adv · 2025
0.90
3
Unravelling the molecular landscape of endometrial cancer subtypes: insights from multiomics analysis.
PMID: 38775562
Int J Surg · 2024
0.80
4
Update on SLC6A14 in lung and gastrointestinal physiology and physiopathology: focus on cystic fibrosis.
PMID: 32166393
Cell Mol Life Sci · 2020
0.70
5
SLC6A14 Drives Mitochondrial Fusion and Oxidative Phosphorylation to Promote Cancer Stemness and Early-Onset of Breast Cancer.
PMID: 40959920
Adv Sci (Weinh) · 2025
0.60