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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC7A8
solute carrier family 7 member 8
Chromosome 14 Β· 14q11.2
NCBI Gene: 23428Ensembl: ENSG00000092068.21HGNC: HGNC:11066UniProt: Q53EM9
50PubMed Papers
20Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
thyroid hormone transmembrane transporter activitymicrovillus membranethyroid hormone transportamino acid import across plasma membraneneurodegenerative diseaseneuroinflammatory disorderShort staturecataract
✦AI Summary

SLC7A8 encodes a neutral amino acid transporter that forms a heterodimeric complex with SLC3A2 to facilitate the transport of amino acids across cell membranes 1. The protein functions as an antiporter, mediating bidirectional exchange of amino acids with asymmetric substrate affinities that allow regulation of intracellular amino acid pools. Beyond amino acid transport, SLC7A8 plays important roles in cellular uptake of various compounds including kynurenine, which is involved in immune regulation through the aryl hydrocarbon receptor pathway 12. In cancer contexts, SLC7A8 shows tissue-specific expression patterns and clinical relevance. The transporter is decreased in lung adenocarcinoma tissues compared to normal tissue, and its downregulation correlates with poor prognosis and altered immune cell infiltration 3. Conversely, in estrogen receptor-positive breast cancer, particularly low proliferative/luminal A subtypes, high SLC7A8 expression associates with favorable prognosis and longer survival 4. Functional studies demonstrate that SLC7A8 can transport doxorubicin, and genetic variants in SLC7A8 are associated with early disease progression in osteosarcoma patients receiving chemotherapy 5. Additionally, SLC7A8 knockout mice show protection against diet-induced obesity, suggesting metabolic regulatory functions 6.

Sources cited
1
SLC7A8 transports kynurenine in tumor-repopulating cells, contributing to PD-1 upregulation in CD8+ T cells
PMID: 29533786
2
SLC7A8 expression is decreased in lung adenocarcinoma and correlates with poor prognosis and immune infiltration
PMID: 38244585
3
SLC7A8 is involved in tryptophan transport and AHR pathway activation in uterine leiomyoma cells
PMID: 36375056
4
High SLC7A8 expression is associated with favorable prognosis in ER-positive breast cancer
PMID: 32200487
5
SLC7A8 knockout mice are protected against diet-induced obesity
PMID: 35205177
6
SLC7A8 genetic variants are associated with early disease progression in osteosarcoma and the protein transports doxorubicin
PMID: 36438828
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.37Weak
neuroinflammatory disorderOpen Targets
0.33Weak
Short statureOpen Targets
0.32Weak
cataractOpen Targets
0.30Weak
alcohol drinkingOpen Targets
0.15Weak
deafnessOpen Targets
0.12Weak
hearing loss, autosomal recessiveOpen Targets
0.12Weak
autosomal dominant nonsyndromic hearing lossOpen Targets
0.12Weak
auditory neuropathy, autosomal dominant 3Open Targets
0.09Suggestive
autosomal dominant nonsyndromic hearing loss 17Open Targets
0.09Suggestive
autosomal dominant nonsyndromic hearing loss 7Open Targets
0.09Suggestive
autosomal recessive nonsyndromic hearing loss 102Open Targets
0.09Suggestive
deafness, aminoglycoside-inducedOpen Targets
0.09Suggestive
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposureOpen Targets
0.09Suggestive
autosomal recessive nonsyndromic hearing loss 86Open Targets
0.09Suggestive
hearing loss, autosomal dominant 88Open Targets
0.09Suggestive
hearing loss, autosomal dominant 89Open Targets
0.09Suggestive
autosomal recessive nonsyndromic hearing loss 1BOpen Targets
0.09Suggestive
autosomal dominant nonsyndromic hearing loss 65Open Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
Pathogenic Variants3
NM_012244.4(SLC7A8):c.1017-1G>TLikely pathogenic
Cataract
β˜…β˜†β˜†β˜†2024
NM_012244.4(SLC7A8):c.851A>G (p.Asn284Ser)Likely pathogenic
Short stature
β˜†β˜†β˜†β˜†2001β†’ Residue 284
NM_012244.4(SLC7A8):c.730G>A (p.Ala244Thr)Likely pathogenic
Short stature
β˜†β˜†β˜†β˜†2001β†’ Residue 244
View on ClinVar β†—
Related Genes
SLC3A1Protein interaction84%LCN2Protein interaction80%SLCO1C1Protein interaction73%SLC3A2Protein interaction66%SLC43A1Protein interaction65%SLC7A5Protein interaction63%
Tissue Expression6 tissues
Ovary
100%
Lung
24%
Heart
15%
Brain
11%
Liver
5%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
SLC7A8SLC3A1LCN2SLCO1C1SLC3A2SLC43A1SLC7A5
PROTEIN STRUCTURE
Preparing viewer…
PDB7CMI Β· 2.90 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.79LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.59 [0.45–0.79]
RankingsWhere SLC7A8 stands among ~20K protein-coding genes
  • #8,879of 20,598
    Most Researched50
  • #4,063of 5,498
    Most Pathogenic Variants3
  • #6,556of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedSLC7A8
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Tumor-Repopulating Cells Induce PD-1 Expression in CD8
PMID: 29533786
Cancer Cell Β· 2018
1.00
2
PMID: 38244585
Aging (Albany NY) Β· 2024
0.90
3
Mono-(2-ethyl-5-hydroxyhexyl) phthalate promotes uterine leiomyoma cell survival through tryptophan-kynurenine-AHR pathway activation.
PMID: 36375056
Proc Natl Acad Sci U S A Β· 2022
0.80
4
Selective Alanine Transporter Utilization Is a Therapeutic Vulnerability in ARID1A-Mutant Ovarian Cancer.
PMID: 40658600
Cancer Res Β· 2025
0.70
5
Identification of key biomarkers related to fibrocartilage chondrocytes for osteoarthritis based on bulk, single-cell transcriptomic data.
PMID: 39640258
Front Immunol Β· 2024
0.60