Aliases for SPNS2 Gene
External Ids for SPNS2 Gene
Previous GeneCards Identifiers for SPNS2 Gene
The protein encoded by this gene is a transporter of sphingosine 1-phosphate, a secreted lipid that is important in cardiovascular, immunological, and neural development. Defects in this gene are a cause of early onset progressive hearing loss. [provided by RefSeq, Jul 2016]
GeneCards Summary for SPNS2 Gene
SPNS2 (Sphingolipid Transporter 2) is a Protein Coding gene. Diseases associated with SPNS2 include Deafness, Autosomal Recessive 115. Gene Ontology (GO) annotations related to this gene include transmembrane transporter activity and sphingolipid transporter activity. An important paralog of this gene is SPNS1.
UniProtKB/Swiss-Prot Summary for SPNS2 Gene
Acts a a crucial lysosphingolipid sphingosine 1-phosphate (S1P) transporter involved in S1P secretion and function (PubMed:19074308, PubMed:23180825). S1P is a bioactive signaling molecule that regulates many physiological processes important for the development and for the immune system. Regulates levels of S1P and the S1P gradient that exists between the high circulating concentrations of S1P and low tissue levels that control lymphocyte trafficking (PubMed:19074308, PubMed:23180825).