Aliases for SLC7A2 Gene
External Ids for SLC7A2 Gene
Previous HGNC Symbols for SLC7A2 Gene
Previous GeneCards Identifiers for SLC7A2 Gene
The protein encoded by this gene is a cationic amino acid transporter and a member of the APC (amino acid-polyamine-organocation) family of transporters. The encoded membrane protein is responsible for the cellular uptake of arginine, lysine and ornithine. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
GeneCards Summary for SLC7A2 Gene
SLC7A2 (Solute Carrier Family 7 Member 2) is a Protein Coding gene. Diseases associated with SLC7A2 include Lysinuric Protein Intolerance. Among its related pathways are Amino acid transport across the plasma membrane and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include amino acid transmembrane transporter activity and basic amino acid transmembrane transporter activity. An important paralog of this gene is SLC7A1.
UniProtKB/Swiss-Prot for SLC7A2 Gene
Functions as permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine); the affinity for its substrates differs between isoforms created by alternative splicing. Isoform 1 functions as permease that mediates the transport of the cationic amino acids (arginine, lysine and ornithine), and it has much higher affinity for arginine than isoform 2. Isoform 2 functions as low-affinity, high capacity permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine) (PubMed:9174363). May play a role in classical or alternative activation of macrophages via its role in arginine transport.