SGMS2

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]

Description

Sphingomyelin synthase 2

Tissue specificity

Low tissue specificity

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

4 (107824563 - 107915047)

Ensembl ID

ENSG00000164023  (ver. 103.38)

Orthologs

Mouse Sgms2: ENSMUSG00000050931

UniProt

Q8NHU3

neXtProt

NX_Q8NHU3

Human splice variants
Mouse splice variants

Protein structure