SLC7A8: Solute Carrier Family 7 Member 8
Amino acid transporter LAT2 involved in nutrient sensing and metabolic regulation
Gene Information Card
| Symbol | SLC7A8 |
|---|---|
| Full Name | Solute Carrier Family 7 Member 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 23428 ncbi.nlm.nih.gov/gene/23428 |
| Ensembl ID | ENSG00000100804 |
| UniProt ID | Q9UHI5 |
| OMIM ID | 604235 |
| HGNC ID | 11066 |
| Aliases | LAT2, LPI-PC1, hLAT2 |
Description
SLC7A8 encodes the L-type amino acid transporter 2 (LAT2), a sodium-independent, pH-sensitive transporter that mediates the uptake of large neutral amino acids. It forms a heterodimeric complex with the heavy chain SLC3A2 (CD98) and is widely expressed in kidney, intestine, brain, and placenta. LAT2 plays a critical role in amino acid homeostasis, mTOR signaling, and cellular growth.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lysinuric protein intolerance (LPI) | Defective amino acid transport due to SLC7A7 mutations; SLC7A8 may partially compensate but is not directly causative. | OMIM #222700 |
| Cancer (multiple types) | Overexpression of SLC7A8 in certain tumors supports amino acid supply for proliferation and mTOR activation. | COSMIC, PubMed |
| Chronic kidney disease | Altered SLC7A8 expression in renal tubules affects amino acid reabsorption and metabolic balance. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Small intestine | 10.2 | High |
| Placenta | 8.7 | Medium |
| Brain | 6.3 | Medium |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.4 | High expression |
| Caco-2 | 11.8 | Intestinal epithelial model |
| HepG2 | 4.2 | Low expression |
| SH-SY5Y | 7.6 | Neuronal model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Reduced transport activity in vitro |
| c.1286G>A (p.Arg429Gln) | Missense | <0.01% | Altered substrate specificity |
| c.1522C>T (p.Arg508Cys) | Missense | <0.01% | Impaired heterodimerization with SLC3A2 |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg349Trp) reduce amino acid transport activity.
Gain of Function (GOF)
Not reported for SLC7A8.
Dominant Negative (DN)
Not described for SLC7A8.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003333 – amino acid transmembrane transport | • GO:0015171 – amino acid transmembrane transporter activity |
| • GO:0015183 – L-amino acid transmembrane transporter activity | • GO:0015293 – symporter activity |
| • GO:0005886 – plasma membrane | • GO:0016021 – integral component of membrane |
Pathways
• Amino acid transport across the plasma membrane (Reactome: R-HSA-352230)
• mTOR signaling (Reactome: R-HSA-165159)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
Protein Summary
LAT2 (SLC7A8) is a 535-amino acid transmembrane protein with 12 putative membrane-spanning domains. It functions as a light chain of the heterodimeric amino acid transporter complex, associating with SLC3A2 via a disulfide bond. LAT2 mediates the exchange of large neutral amino acids (e.g., leucine, phenylalanine, tryptophan) in a sodium-independent manner. Its activity is pH-dependent and essential for amino acid uptake in epithelial and neuronal cells. The protein is implicated in nutrient sensing, cell growth, and metabolic regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC7A8 Knockout HEK293 Cell Line | EDC08226 | Human | 23428 | Details Get a Quote |
| SLC7A8 Knockout HCT 116 Cell Line | EDJ-KQ22751 | Human | 23428 | Details Get a Quote |
| SLC7A8 Knockout HeLa Cell Line | EDJ-KQ55735 | Human | 23428 | Details Get a Quote |
| SLC7A8 Knockout A-549 Cell Line | EDJ-KQ64233 | Human | 23428 | Details Get a Quote |
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