SLC7A2: Solute Carrier Family 7 Member 2
Cationic Amino Acid Transporter, y+ System, Member 2 (CAT-2)
Gene Information Card
| Symbol | SLC7A2 |
|---|---|
| Full Name | Solute Carrier Family 7 Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p22 |
| NCBI Gene ID | 6542 ncbi.nlm.nih.gov/gene/6542 |
| Ensembl ID | ENSG00000103994 |
| UniProt ID | P52569 |
| OMIM ID | 601872 |
| HGNC ID | 11060 |
| Aliases | CAT2, ATRC2, HCAT2, SLC7A2 |
Description
SLC7A2 (Solute Carrier Family 7 Member 2) encodes a member of the solute carrier family 7, the cationic amino acid transporter (CAT) family. The encoded protein mediates high-affinity, sodium-independent transport of cationic amino acids such as L-arginine, L-lysine, and L-ornithine. It plays a critical role in nitric oxide synthesis by supplying L-arginine to nitric oxide synthases, and is involved in immune response, inflammation, and cell growth.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | Altered arginine transport affecting nitric oxide production | ClinVar, OMIM |
| Asthma | Dysregulated arginine metabolism in airway inflammation | NCBI, PubMed |
| Inflammatory bowel disease | Impaired arginine uptake in intestinal epithelium | NCBI, PubMed |
| Cancer (various) | Altered expression influencing tumor growth and immune evasion | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Lung | 6.1 | Low |
| Spleen | 15.2 | Medium |
| Small intestine | 9.7 | Medium |
| Brain | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 18.5 | Hepatocellular carcinoma |
| A549 | 7.2 | Lung adenocarcinoma |
| THP-1 | 22.1 | Monocytic leukemia |
| Caco-2 | 14.8 | Colorectal adenocarcinoma |
| HEK293 | 5.6 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | <0.01% | Reduced arginine transport activity |
| c.455C>T (p.Pro152Leu) | Missense | <0.01% | Altered substrate affinity |
| c.789+1G>A | Splice donor | <0.01% | Predicted loss of function |
| c.1024A>G (p.Ile342Val) | Missense | 0.02% | Likely benign |
Mutation functional classification
Loss of Function (LOF)
Splice site and missense variants (e.g., c.789+1G>A, p.Gly38Arg) reduce or abolish arginine transport, impairing nitric oxide synthesis.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in SLC7A2.
Dominant Negative (DN)
No dominant-negative mutations described for SLC7A2.
View complete mutation data：
Gene Ontology (GO)
| • amino acid transmembrane transporter activity (GO:0015171) | • L-arginine transmembrane transporter activity (GO:0015187) |
| • L-lysine transmembrane transporter activity (GO:0015189) | • plasma membrane (GO:0005886) |
| • integral component of membrane (GO:0016021) | • transport (GO:0006810) |
| • cellular amino acid metabolic process (GO:0006520) |
Pathways
• Arginine and proline metabolism (Reactome: R-HSA-71291)
• Transport of inorganic cations/anions and amino acids/oligopeptides (Reactome: R-HSA-425393)
• Nitric oxide signaling (Reactome: R-HSA-202131)
Protein Summary
The SLC7A2 protein (CAT-2) is a 658-amino acid, 12-transmembrane domain transporter localized to the plasma membrane. It functions as a homodimer or heterodimer with SLC3A2 (4F2hc) to mediate high-affinity, sodium-independent uptake of cationic amino acids. CAT-2 is essential for L-arginine supply to nitric oxide synthases, thereby regulating nitric oxide production in immune and vascular cells. Alternative splicing generates isoforms with distinct tissue distribution and transport kinetics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC7A2 Knockout HEK293 Cell Line | EDJ-KQ5777 | Human | 6542 | Details Get a Quote |
| SLC7A2 Knockout A-549 Cell Line | EDJ-KQ29194 | Human | 6542 | Details Get a Quote |
| SLC7A2 Knockout HCT 116 Cell Line | EDJ-KQ29195 | Human | 6542 | Details Get a Quote |
| SLC7A2 Knockout HeLa Cell Line | EDJ-KQ18246 | Human | 6542 | Details Get a Quote |
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