SLC7A6: Solute Carrier Family 7 Member 6
A cationic amino acid transporter with roles in cellular nutrition and signaling
Gene Information Card
| Symbol | SLC7A6 |
|---|---|
| Full Name | Solute Carrier Family 7 Member 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 9057 ncbi.nlm.nih.gov/gene/9057 |
| Ensembl ID | ENSG00000103034 |
| UniProt ID | Q92536 |
| OMIM ID | 605642 |
| HGNC ID | 11064 |
| Aliases | y+LAT2, LAT-2, KIAA0245 |
Description
SLC7A6 encodes a member of the solute carrier family 7, specifically the y+L-type amino acid transporter 2 (y+LAT2). This protein forms a heterodimeric complex with the heavy chain SLC3A2 (CD98) to mediate sodium-independent transport of cationic amino acids and sodium-dependent transport of neutral amino acids. It plays a critical role in cellular amino acid homeostasis, particularly in the kidney and intestine, and is involved in nitric oxide synthesis by supplying arginine to endothelial and immune cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lysinuric protein intolerance (LPI) | Defective transport of cationic amino acids due to mutations in SLC7A6 or its partner SLC3A2 leads to impaired renal and intestinal absorption. | OMIM #222700; ClinVar |
| Cancer (various) | Overexpression of SLC7A6 in certain tumors may enhance arginine uptake, supporting tumor growth and nitric oxide production. | COSMIC; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Small intestine | 10.2 | Medium |
| Liver | 8.1 | Medium |
| Lung | 6.3 | Low |
| Brain | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HepG2 | 11.8 | Medium expression |
| A549 | 9.4 | Medium expression |
| MCF7 | 6.1 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.125C>T (p.Thr42Met) | Missense | <0.01% | Reduced transport activity; associated with LPI |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Impaired heterodimer formation; LPI |
| c.1022T>C (p.Leu341Pro) | Missense | <0.01% | Loss of function; LPI |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Thr42Met, p.Gly163Arg, p.Leu341Pro) reduce or abolish amino acid transport activity, leading to lysinuric protein intolerance.
Gain of Function (GOF)
No gain-of-function mutations reported in SLC7A6.
Dominant Negative (DN)
Not described for SLC7A6.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Amino acid transport across the plasma membrane (Reactome: R-HSA-352230)
• Arginine and proline metabolism (KEGG: hsa00330)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
Protein Summary
The SLC7A6 protein (y+LAT2) is a 511-amino acid transmembrane transporter with 12 predicted membrane-spanning domains. It functions as a light chain that associates with the heavy chain SLC3A2 (CD98) via a disulfide bond. The heterodimer mediates the exchange of extracellular cationic amino acids (e.g., L-arginine, L-lysine) for intracellular neutral amino acids (e.g., L-leucine) plus sodium. This antiport mechanism is essential for cellular arginine uptake, which fuels nitric oxide synthesis and polyamine production. The protein is highly expressed in kidney and intestinal epithelia, consistent with its role in amino acid reabsorption.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC7A6 Knockout HEK293 Cell Line | EDJ-KQ6446 | Human | 9057 | Details Get a Quote |
| SLC7A6 Knockout HeLa Cell Line | EDJ-KQ29183 | Human | 9057 | Details Get a Quote |
| SLC7A6 Knockout A-549 Cell Line | EDJ-KQ30510 | Human | 9057 | Details Get a Quote |
| SLC7A6 Knockout HCT 116 Cell Line | EDJ-KQ30511 | Human | 9057 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records