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.

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 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
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