Aliases for SMPD2 Gene
External Ids for SMPD2 Gene
Previous GeneCards Identifiers for SMPD2 Gene
This gene encodes a protein which was initially identified as a sphingomyelinase based on sequence similarity between bacterial sphingomyelinases and a yeast protein. Subsequent studies showed that its biological function is less likely to be as a sphingomyelinase and instead as a lysophospholipase. [provided by RefSeq, Oct 2009]
GeneCards Summary for SMPD2 Gene
SMPD2 (Sphingomyelin Phosphodiesterase 2) is a Protein Coding gene. Diseases associated with SMPD2 include Lipid Storage Disease and Coffin-Siris Syndrome 1. Among its related pathways are Sphingolipid metabolism and p75(NTR)-mediated signaling. Gene Ontology (GO) annotations related to this gene include sphingomyelin phosphodiesterase activity.
UniProtKB/Swiss-Prot Summary for SMPD2 Gene
Catalyzes the hydrolysis of sphingomyelin to form ceramide and phosphocholine. Ceramide mediates numerous cellular functions, such as apoptosis and growth arrest, and is capable of regulating these 2 cellular events independently. Also hydrolyzes sphingosylphosphocholine. Hydrolyze 1-acyl-2-lyso-sn-glycero-3-phosphocholine (lyso-PC) and 1-O-alkyl-2-lyso-sn-glycero-3-phosphocholine (lyso-platelet-activating factor).