• Gene id: 6610

Gene Summary

• Gene Symbol: SMPD2   Gene   UCSC   Ensembl
• Aliases: ISC1, NSMASE, NSMASE1
• Gene name: sphingomyelin phosphodiesterase 2
• Alternate names: sphingomyelin phosphodiesterase 2, N-SMase, lyso-PAF-PLC, lyso-platelet-activating factor-phospholipase C, neutral sphingomyelinase,
• Gene location: 6q21 (109440720: 109443921)     Exons: 10     NC_000006.12
• Gene summary(Entrez): This gene encodes a protein which was initially identified as a sphingomyelinase based on sequence similarity between bacterial sphingomyelinases and a yeast protein. Subsequent studies showed that its biological function is less likely to be as a sphingo
• OMIM: 608838

Protein Summary

• Protein general information: O60906  
  • Name: Sphingomyelin phosphodiesterase 2 (EC 3.1.4.12) (Lyso platelet activating factor phospholipase C) (Lyso PAF PLC) (Neutral sphingomyelinase) (N SMase) (nSMase)
  • Length: 423  
  • Mass: 47646
• Sequence:

  MKPNFSLRLRIFNLNCWGIPYLSKHRADRMRRLGDFLNQESFDLALLEEVWSEQDFQYLRQKLSPTYPAAHHFRS
  GIIGSGLCVFSKHPIQELTQHIYTLNGYPYMIHHGDWFSGKAVGLLVLHLSGMVLNAYVTHLHAEYNRQKDIYLA
  HRVAQAWELAQFIHHTSKKADVVLLCGDLNMHPEDLGCCLLKEWTGLHDAYLETRDFKGSEEGNTMVPKNCYVSQ
  QELKPFPFGVRIDYVLYKAVSGFYISCKSFETTTGFDPHRGTPLSDHEALMATLFVRHSPPQQNPSSTHGPAERS
  PLMCVLKEAWTELGLGMAQARWWATFASYVIGLGLLLLALLCVLAAGGGAGEAAILLWTPSVGLVLWAGAFYLFH
  VQEVNGLYRAQAELQHVLGRAREAQDLGPEPQPALLLGQQEGDRTKEQ

• Structural information:
  • Interpro: IPR036691  IPR005135  IPR038772  
  • STRING: ENSP00000258052
• Other Databases: GeneCards:  SMPD2  Malacards:  SMPD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005901	caveola	IBA	cellular component
GO:0004767	sphingomyelin phosphodiesterase activity	IBA	molecular function
GO:0006684	sphingomyelin metabolic process	IBA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0004767	sphingomyelin phosphodiesterase activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006684	sphingomyelin metabolic process	TAS	biological process
GO:0004767	sphingomyelin phosphodiesterase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:2000304	positive regulation of ceramide biosynthetic process	TAS	biological process
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006685	sphingomyelin catabolic process	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0004767	sphingomyelin phosphodiesterase activity	IEA	molecular function
GO:0046513	ceramide biosynthetic process	IEA	biological process
GO:0009612	response to mechanical stimulus	IEA	biological process
GO:0005901	caveola	IEA	cellular component
GO:0004767	sphingomyelin phosphodiesterase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006665	sphingolipid metabolic process	IEA	biological process

KEGG pathways

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

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881