Basic Information

Symbol
SGMS2
RNA class
mRNA
Alias
Sphingomyelin Synthase 2 SMS2 Phosphatidylcholine:Ceramide Cholinephosphotransferase 2 EC 2.7.8.27 MGC26963 SM Synthase CDL
Location (GRCh38)
4:107824563-107915047
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Sudden cardiac death diagnosis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_001375905.1
Sequence length
6240.0 nt
GC content
0.3780

Transcripts

ID Sequence Length GC content
NM_001136257.2 NCBI
AAAUGGAGUUUCAAAAUCACAAGCUUCUUUCCCACAUGAACAUAAGACU… 5945 nt 0.3554
NM_001136258.2 NCBI
AGAUUGAUCUCUGUUGCCGCUCAGGGAGGUCAGCUCCAGGCCCUCAGCC… 6149 nt 0.3677
NM_001375905.1 NCBI
ACUGAGCGCCGCGCCGUGGGCCGAGUGGGGCGGGGAGACCCAGCCCUCG… 6240 nt 0.3780
NM_001375906.1 NCBI
AGAUUGAUCUCUGUUGCCGCUCAGGGAGGUCAGCUCCAGGCCCUCAGCC… 6287 nt 0.3719
NM_001375907.1 NCBI
ACUGAGCGCCGCGCCGUGGGCCGAGUGGGGCGGGGAGACCCAGCCCUCG… 6271 nt 0.3786
NM_001375908.1 NCBI
AGAUUGAUCUCUGUUGCCGCUCAGGGAGGUCAGCUCCAGGCCCUCAGCC… 6180 nt 0.3683
NM_001375910.1 NCBI
ACUGAGCGCCGCGCCGUGGGCCGAGUGGGGCGGGGAGACCCAGCCCUCG… 6073 nt 0.3763
NM_001375911.1 NCBI
ACUGAGCGCCGCGCCGUGGGCCGAGUGGGGCGGGGAGACCCAGCCCUCG… 5541 nt 0.3743
NM_152621.6 NCBI
AAAUGGAGUUUCAAAAUCACAAGCUUCUUUCCCACAUGAACAUAAGACU… 6221 nt 0.3610
Summary

Sphingomyelin, a major component of cell and Golgi membranes, is made by the transfer of phosphocholine from phosphatidylcholine onto ceramide, with diacylglycerol as a side product. The protein encoded by this gene is an enzyme that catalyzes this reaction primarily at the cell membrane. The synthesis is reversible, and this enzyme can catalyze the reaction in either direction. The encoded protein is required for cell growth. Three transcript variants encoding the same protein have been found for this gene. There is evidence for more variants, but the full-length nature of their transcripts has not been determined.[provided by RefSeq, Oct 2008]

Forensic Context

A study in human patients with dilated cardiomyopathy demonstrated that the SGMS2 mRNA is upregulated in ischemic cardiomyopathy compared to volume overload cardiomyopathy and forms a negatively correlated pair with miR-494-3p, with the direct targeting interaction validated by luciferase reporter assay [Bonet et al. DOI:10.3390/biom14050524].