• Gene id: 166929

Gene Summary

• Gene Symbol: SGMS2   Gene   UCSC   Ensembl
• Aliases: CDL, SMS2
• Gene name: sphingomyelin synthase 2
• Alternate names: phosphatidylcholine:ceramide cholinephosphotransferase 2, SM synthase,
• Gene location: 4q25 (107823644: 107915046)     Exons: 11     NC_000004.12
• Gene summary(Entrez): 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 reacti
• OMIM: 611574

Protein Summary

• Protein general information: Q8NHU3  
  • Name: Phosphatidylcholine:ceramide cholinephosphotransferase 2 (EC 2.7.8.27) (Sphingomyelin synthase 2)
  • Length: 365  
  • Mass: 42280
  • Tissue specificity: Brain, heart, kidney, liver, muscle and stomach. Also expressed in a number of cell lines such as carcinoma HeLa cells, hepatoma Hep-G2 cells, and colon carcinoma Caco-2 cells. {ECO
• Sequence:

  MDIIETAKLEEHLENQPSDPTNTYARPAEPVEEENKNGNGKPKSLSSGLRKGTKKYPDYIQIAMPTESRNKFPLE
  WWKTGIAFIYAVFNLVLTTVMITVVHERVPPKELSPPLPDKFFDYIDRVKWAFSVSEINGIILVGLWITQWLFLR
  YKSIVGRRFCFIIGTLYLYRCITMYVTTLPVPGMHFQCAPKLNGDSQAKVQRILRLISGGGLSITGSHILCGDFL
  FSGHTVTLTLTYLFIKEYSPRHFWWYHLICWLLSAAGIICILVAHEHYTIDVIIAYYITTRLFWWYHSMANEKNL
  KVSSQTNFLSRAWWFPIFYFFEKNVQGSIPCCFSWPLSWPPGCFKSSCKKYSRVQKIGEDNEKST

• Structural information:
  • Interpro: IPR025749  
  • STRING: ENSP00000378176
• Other Databases: GeneCards:  SGMS2  Malacards:  SGMS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046513	ceramide biosynthetic process	IBA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IBA	cellular component
GO:0030173	integral component of Golgi membrane	IBA	cellular component
GO:0047493	ceramide cholinephosphotransferase activity	IBA	molecular function
GO:0033188	sphingomyelin synthase activity	IBA	molecular function
GO:0030148	sphingolipid biosynthetic process	IBA	biological process
GO:0006686	sphingomyelin biosynthetic process	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0033188	sphingomyelin synthase activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0030500	regulation of bone mineralization	IMP	biological process
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0033188	sphingomyelin synthase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030148	sphingolipid biosynthetic process	TAS	biological process
GO:0033188	sphingomyelin synthase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1905373	ceramide phosphoethanolamine biosynthetic process	IEA	biological process
GO:0033188	sphingomyelin synthase activity	IEA	molecular function
GO:0006686	sphingomyelin biosynthetic process	IEA	biological process
GO:0002950	ceramide phosphoethanolamine synthase activity	IEA	molecular function
GO:0046513	ceramide biosynthetic process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0047493	ceramide cholinephosphotransferase activity	IDA	molecular function
GO:0006686	sphingomyelin biosynthetic process	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0030173	integral component of Golgi membrane	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04071	Sphingolipid signaling pathway
hsa00600	Sphingolipid metabolism

Diseases

Associated diseases	References
Calvarial doughnut lesions with bone fragility	KEGG:H02395
Calvarial doughnut lesions with bone fragility	KEGG:H02395
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881