SGMS2 (sphingomyelin synthase 2)

2003-05-01  

Identity

HGNC
LOCATION
4q25
LOCUSID
ALIAS
CDL,SMS2

Other Information

Locus ID:

NCBI: 166929
MIM: 611574
HGNC: 28395
Ensembl: ENSG00000164023

Variants:

dbSNP: 166929
ClinVar: 166929
TCGA: ENSG00000164023
COSMIC: SGMS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164023ENST00000359079Q8NHU3
ENSG00000164023ENST00000359079A0A024RDH4
ENSG00000164023ENST00000394684Q8NHU3
ENSG00000164023ENST00000394684A0A024RDH4
ENSG00000164023ENST00000394686Q8NHU3
ENSG00000164023ENST00000394686A0A024RDH4
ENSG00000164023ENST00000503385E5RGG5
ENSG00000164023ENST00000503862E5RJU3
ENSG00000164023ENST00000506993E5RJ63

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Sphingolipid metabolismKEGGko00600
Sphingolipid metabolismKEGGhsa00600
Metabolic pathwaysKEGGhsa01100
Sphingolipid signaling pathwayKEGGhsa04071
Sphingolipid signaling pathwayKEGGko04071
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Sphingolipid de novo biosynthesisREACTOMER-HSA-1660661

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
174499122007Both sphingomyelin synthases SMS1 and SMS2 are required for sphingomyelin homeostasis and growth in human HeLa cells.79
185662972008Sphingomyelin synthase 2 deficiency attenuates NFkappaB activation.46
176164792007Inhibition of sphingomyelin synthase (SMS) affects intracellular sphingomyelin accumulation and plasma membrane lipid organization.44
221062712011Sphingomyelin and sphingomyelin synthase (SMS) in the malignant transformation of glioma cells and in 2-hydroxyoleic acid therapy.39
183709302008Sphingomyelin synthases regulate production of diacylglycerol at the Golgi.32
179821382008SMS overexpression and knockdown: impact on cellular sphingomyelin and diacylglycerol metabolism, and cell apoptosis.29
192866352009Sphingomyelin synthase 2 is one of the determinants for plasma and liver sphingomyelin levels in mice.29
219803372011Sphingomyelin synthases regulate protein trafficking and secretion.28
194547632009Sphingomyelin synthase SMS2 displays dual activity as ceramide phosphoethanolamine synthase.22
186948482008The domain responsible for sphingomyelin synthase (SMS) activity.19

Citation

Dessen P

SGMS2 (sphingomyelin synthase 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/41354/sgms2