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 Signaling by GPCR and NGF Pathway. Gene Ontology (GO) annotations related to this gene include sphingomyelin phosphodiesterase activity.
UniProtKB/Swiss-Prot Summary for SMPD2 Gene
Converts sphingomyelin to ceramide. 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). The physiological substrate seems to be Lyso-PAF.