Endometriosis Knowledgebase

Search Result

Gene id

55512

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 (: ) Exons:

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: 71,081

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:0000137	Golgi cis cisterna	IEA	cellular_component
GO:0000139	Golgi membrane	IEA	cellular_component
GO:0002244	hematopoietic progenitor cell differentiation	IEA	biological_process
GO:0004767	sphingomyelin phosphodies terase activity	IEA	molecular_function
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0006685	sphingomyelin catabolic p rocess	TAS	biological_process
GO:0006687	glycosphingolipid metabol ic process	TAS	biological_process
GO:0007049	cell cycle	IEA	biological_process
GO:0030072	peptide hormone secretion	IEA	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:1903543	positive regulation of ex osomal secretion	ISS	biological_process
GO:2000304	positive regulation of ce ramide biosynthetic proce ss	TAS	biological_process
GO:0000137	Golgi cis cisterna	IEA	cellular_component
GO:0000139	Golgi membrane	IEA	cellular_component
GO:0002244	hematopoietic progenitor cell differentiation	IEA	biological_process
GO:0004767	sphingomyelin phosphodies terase activity	IEA	molecular_function
GO:0004767	sphingomyelin phosphodies terase activity	IEA	molecular_function
GO:0005794	Golgi apparatus	IEA	cellular_component
GO:0005794	Golgi apparatus	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0006629	lipid metabolic process	IEA	biological_process
GO:0006665	sphingolipid metabolic pr ocess	IEA	biological_process
GO:0006665	sphingolipid metabolic pr ocess	IEA	biological_process
GO:0006684	sphingomyelin metabolic p rocess	IEA	biological_process
GO:0006685	sphingomyelin catabolic p rocess	TAS	biological_process
GO:0006687	glycosphingolipid metabol ic process	TAS	biological_process
GO:0007049	cell cycle	IEA	biological_process
GO:0007275	multicellular organism de velopment	IEA	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016787	hydrolase activity	IEA	molecular_function
GO:0030072	peptide hormone secretion	IEA	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:1903543	positive regulation of ex osomal secretion	ISS	biological_process
GO:2000304	positive regulation of ce ramide biosynthetic proce ss	TAS	biological_process
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0006685	sphingomyelin catabolic p rocess	TAS	biological_process
GO:0006687	glycosphingolipid metabol ic process	TAS	biological_process
GO:1903543	positive regulation of ex osomal secretion	ISS	biological_process
GO:2000304	positive regulation of ce ramide biosynthetic proce ss	TAS	biological_process

KEGG pathways

hsa00600 Sphingolipid metabolism
hsa01100 Metabolic pathways

Diseases

Associated diseases	References
Diabetes	GAD18622492
Endometriosis	PubMed24960545

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
24960545	Endometrio sis			77 (63 women wi th endometriosi s, 14 women wit hout endometrio sis)		SMS1 GCS	Show abstract