Basic Information

Symbol
SMPD2
RNA class
mRNA
Alias
Sphingomyelin Phosphodiesterase 2 NSMase Neutral Sphingomyelinase ISC1 Lyso-Platelet-Activating Factor-Phospholipase C Lyso-PAF-PLC N-SMase Sphingomyelin Phosphodiesterase 2, Neutral Membrane (Neutral Sphingomyelinase) EC 3.1.4.12 NSMASE1 NSMase1
Location (GRCh38)
6:109440678-109443920
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Drug abuse diagnoses
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_003080.3
Sequence length
1684.0 nt
GC content
0.6110

Transcripts

ID Sequence Length GC content
NM_003080.3 NCBI
CCUCAACUUUGCGCCUGUUGCUGGGCCGCCGGCGCGCGGGCGGCCGCGA… 1684 nt 0.6110
Summary

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]

Forensic Context

A study in human postmortem brain tissue demonstrated that the SMPD2 was up-regulated in the frontal cortex of alcoholic cases compared to controls, as identified through cDNA microarray profiling and validated by Bayesian statistical analysis and hierarchical clustering [Liu et al. DOI:10.1111/J.1471-4159.2004.02570.X].