HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
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.
SLC6A6
solute carrier family 6 member 6
Chromosome 3 Β· 3p25.1
NCBI Gene: 6533Ensembl: ENSG00000131389.18HGNC: HGNC:11052UniProt: A0A087WY96
79PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
apical plasma membranepositive regulation of cell differentiationamino acid import across plasma membraneamino acid transmembrane transporter activityhypotaurinemic retinal degeneration and cardiomyopathycardiomyopathyrevision of total joint arthroplastyRetinal dystrophy
✦AI Summary

SLC6A6 (solute carrier family 6 member 6) functions as a sodium- and chloride-dependent transporter primarily responsible for taurine uptake across cellular membranes 12. The protein localizes to both plasma membrane and mitochondria, where it imports taurine essential for mitochondrial transfer RNA modifications and translation 2. SLC6A6 also transports beta-alanine and can mediate GABA transport. Beyond its transport function, SLC6A6 plays critical roles in cellular metabolism and immune regulation. In cancer contexts, tumor cells overexpress SLC6A6 to outcompete CD8+ T cells for taurine, leading to T cell exhaustion and immune evasion through ATF4-mediated upregulation of immune checkpoint genes 1. The transporter is regulated by protein kinase A for subcellular localization and by NFAT5 for mitochondrial function 2. SLC6A6 expression is elevated in gastric cancer and correlates with poor prognosis, potentially due to hypomethylation 3. In vascular biology, SLC6A6 suppresses smooth muscle cell proliferation and migration via Wnt/Ξ²-catenin signaling inhibition 4. Therapeutically, targeting SLC6A6 or taurine supplementation shows promise for cancer treatment and liver fibrosis management 5.

Sources cited
1
SLC6A6 mediates taurine uptake and tumor cells outcompete T cells for taurine, causing immune exhaustion
PMID: 38565142
2
SLC6A6 localizes to mitochondria and imports taurine for mitochondrial tRNA modifications and translation
PMID: 41652173
3
SLC6A6 expression is elevated in gastric cancer and correlates with poor prognosis
PMID: 30767502
4
SLC6A6 suppresses vascular smooth muscle cell proliferation via Wnt/Ξ²-catenin signaling
PMID: 36769341
5
Taurine via SLC6A6 ameliorates liver fibrosis by regulating macrophage polarization
PMID: 40216178
Disease Associationsβ“˜21
hypotaurinemic retinal degeneration and cardiomyopathyOpen Targets
0.44Moderate
cardiomyopathyOpen Targets
0.42Moderate
revision of total joint arthroplastyOpen Targets
0.35Weak
Retinal dystrophyOpen Targets
0.34Weak
retinal degenerationOpen Targets
0.34Weak
aseptic looseningOpen Targets
0.29Weak
Uveal MelanomaOpen Targets
0.19Weak
secondary malignant neoplasmOpen Targets
0.18Weak
neoplasmOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
age-related macular degenerationOpen Targets
0.08Suggestive
hypertrophic cardiomyopathyOpen Targets
0.07Suggestive
left ventricular noncompactionOpen Targets
0.07Suggestive
X-linked retinal dysplasiaOpen Targets
0.07Suggestive
Alzheimer diseaseOpen Targets
0.07Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.07Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.06Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.06Suggestive
Stargardt diseaseOpen Targets
0.06Suggestive
reticular dystrophy of the retinal pigment epitheliumOpen Targets
0.06Suggestive
Hypotaurinemic retinal degeneration and cardiomyopathyUniProt
Pathogenic Variants3
NM_003043.6(SLC6A6):c.746C>T (p.Thr249Ile)Pathogenic
Retinal dystrophy
β˜…β˜†β˜†β˜†2024β†’ Residue 249
NM_003043.6(SLC6A6):c.233C>A (p.Ala78Glu)Likely pathogenic
Retinal degeneration|Hypotaurinemic retinal degeneration and cardiomyopathy
β˜…β˜†β˜†β˜†2020β†’ Residue 78
NM_003043.6(SLC6A6):c.1196G>T (p.Gly399Val)Likely pathogenic
Retinal degeneration|Hypotaurinemic retinal degeneration and cardiomyopathy
β˜…β˜†β˜†β˜†2020β†’ Residue 399
View on ClinVar β†—
Related Genes
SLC6A13Shared pathway64%SLC6A20Shared pathway38%SLC6A14Shared pathway36%SLC6A19Shared pathway33%SLC6A16Shared pathway30%SLC6A1Shared pathway29%
Tissue Expression6 tissues
Ovary
100%
Lung
81%
Heart
42%
Bone Marrow
36%
Brain
25%
Liver
5%
Gene Interaction Network
Click a node to explore
SLC6A6SLC6A13SLC6A20SLC6A14SLC6A19SLC6A16SLC6A1
PROTEIN STRUCTURE
Preparing viewer…
PDB9JD5 Β· 2.58 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.40Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.26 [0.17–0.40]
RankingsWhere SLC6A6 stands among ~20K protein-coding genes
  • #6,034of 20,598
    Most Researched79
  • #4,019of 5,498
    Most Pathogenic Variants3
  • #1,998of 17,882
    Most Constrained (LOEUF)0.40 Β· top quartile
Genes detectedSLC6A6
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Cancer SLC6A6-mediated taurine uptake transactivates immune checkpoint genes and induces exhaustion in CD8
PMID: 38565142
Cell Β· 2024
1.00
2
SLC6A6 imports taurine into mitochondria to sustain mitochondrial translation and tumour growth.
PMID: 41652173
Nat Metab Β· 2026
0.90
3
Taurine ameliorates liver fibrosis by repressing Fpr2-regulated macrophage M1 polarization.
PMID: 40216178
Eur J Pharmacol Β· 2025
0.80
4
m
PMID: 40668085
Environ Sci Technol Β· 2025
0.70
5
Hormetic elevation of taurine restrains inflammaging by deactivating the NLRP3 inflammasome.
PMID: 40501605
bioRxiv Β· 2025
0.60