SGMS2 sphingomyelin synthase 2
Gene ID: 166929, updated on 4-Jan-2025Gene type: protein coding
Also known as: CDL; SMS2
- See all available tests in GTR for this gene
- Go to complete Gene record for SGMS2
- Go to Variation Viewer for SGMS2 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Calvarial doughnut lesions-bone fragility syndrome | See labs |
Genomic context
- Location:
- 4q25
- Sequence:
- Chromosome: 4; NC_000004.12 (107824563..107915047)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SGMS2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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