• Gene id: 55512

Gene Summary

• Gene Symbol: SMPD3   Gene   UCSC   Ensembl
• Aliases: NSMASE2
• Gene name: sphingomyelin phosphodiesterase 3
• Alternate names: sphingomyelin phosphodiesterase 3, nSMase-2, neutral sphingomyelinase 2, neutral sphingomyelinase II,
• Gene location: 16q22.1 (68448702: 68358326)     Exons: 26     NC_000016.10
• OMIM: 605777

Protein Summary

• Protein general information: Q9NY59  
  • Name: Sphingomyelin phosphodiesterase 3 (EC 3.1.4.12) (Neutral sphingomyelinase 2) (nSMase 2) (nSMase2) (Neutral sphingomyelinase II)
  • Length: 655  
  • Mass: 71081
  • Tissue specificity: Predominantly expressed in brain. {ECO
• Sequence:

  MVLYTTPFPNSCLSALHCVSWALIFPCYWLVDRLAASFIPTTYEKRQRADDPCCLQLLCTALFTPIYLALLVASL
  PFAFLGFLFWSPLQSARRPYIYSRLEDKGLAGGAALLSEWKGTGPGKSFCFATANVCLLPDSLARVNNLFNTQAR
  AKEIGQRIRNGAARPQIKIYIDSPTNTSISAASFSSLVSPQGGDGVARAVPGSIKRTASVEYKGDGGRHPGDEAA
  NGPASGDPVDSSSPEDACIVRIGGEEGGRPPEADDPVPGGQARNGAGGGPRGQTPNHNQQDGDSGSLGSPSASRE
  SLVKGRAGPDTSASGEPGANSKLLYKASVVKKAAARRRRHPDEAFDHEVSAFFPANLDFLCLQEVFDKRAATKLK
  EQLHGYFEYILYDVGVYGCQGCCSFKCLNSGLLFASRYPIMDVAYHCYPNKCNDDALASKGALFLKVQVGSTPQD
  QRIVGYIACTHLHAPQEDSAIRCGQLDLLQDWLADFRKSTSSSSAANPEELVAFDVVCGDFNFDNCSSDDKLEQQ
  HSLFTHYRDPCRLGPGEEKPWAIGTLLDTNGLYDEDVCTPDNLQKVLESEEGRREYLAFPTSKSSGQKGRKELLK
  GNGRRIDYMLHAEEGLCPDWKAEVEEFSFITQLSGLTDHLPVAMRLMVSSGEEEA

• Structural information:
  • Interpro: IPR036691  
  • PDB: 5UVG
  • PDBsum: 5UVG
  • DIP: 60431
  • STRING: ENSP00000219334
• Other Databases: GeneCards:  SMPD3  Malacards:  SMPD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004620	phospholipase activity	IBA	molecular function
GO:0004767	sphingomyelin phosphodiesterase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0006684	sphingomyelin metabolic process	IBA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0006685	sphingomyelin catabolic 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:1900126	negative regulation of hyaluronan biosynthetic process	IEA	biological process
GO:0097187	dentinogenesis	IEA	biological process
GO:0071461	cellular response to redox state	IEA	biological process
GO:0071356	cellular response to tumor necrosis factor	IEA	biological process
GO:0071286	cellular response to magnesium ion	IEA	biological process
GO:0070314	G1 to G0 transition	IEA	biological process
GO:0060541	respiratory system development	IEA	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0043491	protein kinase B signaling	IEA	biological process
GO:0034614	cellular response to reactive oxygen species	IEA	biological process
GO:0032963	collagen metabolic process	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0004767	sphingomyelin phosphodiesterase activity	IEA	molecular function
GO:0002063	chondrocyte development	IEA	biological process
GO:0001958	endochondral ossification	IEA	biological process
GO:0001503	ossification	IEA	biological process
GO:0001501	skeletal system development	IEA	biological process
GO:1901653	cellular response to peptide	IEA	biological process
GO:1900125	regulation of hyaluronan biosynthetic process	IEA	biological process
GO:0140052	cellular response to oxidised low-density lipoprotein particle stimulus	IEA	biological process
GO:0140014	mitotic nuclear division	IEA	biological process
GO:0098868	bone growth	IEA	biological process
GO:0090520	sphingolipid mediated signaling pathway	IEA	biological process
GO:0085029	extracellular matrix assembly	IEA	biological process
GO:0071897	DNA biosynthetic process	IEA	biological process
GO:0070301	cellular response to hydrogen peroxide	IEA	biological process
GO:0061751	neutral sphingomyelin phosphodiesterase activity	IEA	molecular function
GO:0061035	regulation of cartilage development	IEA	biological process
GO:0060348	bone development	IEA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IEA	biological process
GO:0048286	lung alveolus development	IEA	biological process
GO:0048008	platelet-derived growth factor receptor signaling pathway	IEA	biological process
GO:0045840	positive regulation of mitotic nuclear division	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0035264	multicellular organism growth	IEA	biological process
GO:0030509	BMP signaling pathway	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0030282	bone mineralization	IEA	biological process
GO:0030072	peptide hormone secretion	IEA	biological process
GO:0015774	polysaccharide transport	IEA	biological process
GO:0006685	sphingomyelin catabolic process	IEA	biological process
GO:0006684	sphingomyelin metabolic process	IEA	biological process
GO:0006672	ceramide metabolic process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0003433	chondrocyte development involved in endochondral bone morphogenesis	IEA	biological process
GO:0002685	regulation of leukocyte migration	IEA	biological process
GO:0002244	hematopoietic progenitor cell differentiation	IEA	biological process
GO:0001932	regulation of protein phosphorylation	IEA	biological process
GO:0000137	Golgi cis cisterna	IEA	cellular component
GO:1903543	positive regulation of exosomal secretion	ISS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006665	sphingolipid metabolic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00600	Sphingolipid metabolism

Diseases

Associated diseases	References
Pulmonary emphysema	PMID:20448054
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq