SMPD2 (sphingomyelin phosphodiesterase 2)

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Gene Gene information from NCBI Gene database.
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Entrez ID 6610
Gene name Sphingomyelin phosphodiesterase 2
Gene symbol SMPD2
Synonyms (NCBI Gene)
ISC1NSMASENSMASE1
Chromosome 6
Chromosome location 6q21
Summary 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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0004767 Function Sphingomyelin phosphodiesterase activity IBA
GO:0004767 Function Sphingomyelin phosphodiesterase activity IDA 10608884, 14741383
GO:0004767 Function Sphingomyelin phosphodiesterase activity IEA
GO:0005515 Function Protein binding IPI 28514442, 32296183, 32814053, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
603498 11121 ENSG00000135587
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60906
Protein name Sphingomyelin phosphodiesterase 2 (EC 3.1.4.12) (Lyso-platelet-activating factor-phospholipase C) (Lyso-PAF-PLC) (Neutral sphingomyelinase) (N-SMase) (nSMase) (nSMase1)
Protein function Catalyzes, at least in vitro, the hydrolysis of sphingomyelin to form ceramide and phosphocholine (PubMed:10608884). Also hydrolyzes 1-O-alkyl-2-lyso-sn-glycero-3-phosphocholine (lyso-platelet-activating factor) in vivo (PubMed:10608884). Also a
PDB 8J2F
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03372 Exo_endo_phos 13 → 272 Endonuclease/Exonuclease/phosphatase family Domain
Sequence 
MKPNFSLRLRIFNLNCWGIPYLSKHRADRMRRLGDFLNQESFDLALLEEVWSEQDFQYLR
QKLSPTYPAAHHFRSGIIGSGLCVFSKHPIQELTQHIYTLNGYPYMIHHGDWFSGKAVGL
LVLHLSGMVLNAYVTHLHAEYNRQKDIYLAHRVAQAWELAQFIHHTSKKADVVLLCGDLN
MHPEDLGCCLLKEWTGLHDAYLETRDFKGSEEGNTMVPKNCYVSQQELKPFPFGVRIDYV
LYKAVSGFYISCKSFETTTGFDPHRGTPLSDHEALMATLFVRHSPPQQNPSSTHGPAERS
PLMCVLKEAWTELGLGMAQARWWATFASYVIGLGLLLLALLCVLAAGGGAGEAAILLWTP
SVGLVLWAGAFYLFHVQEVNGLYRAQAELQHVLGRAREAQDLGPEPQPALLLGQQEGDRT
KEQ
Sequence length 423
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway Reactome Pathway
Sphingolipid metabolism Glycosphingolipid metabolism
Metabolic pathways TNFR1-mediated ceramide production
Sphingolipid signaling pathway  
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SMPD3 3 shared pathwaysSphingolipid metabolism, TNFR1-mediated ceramide production, Glycosphingolipid metabolism Related via 3 shared pathways including Sphingolipid metabolism, TNFR1-mediated ceramide production. ASAH2 3 shared pathwaysSphingolipid metabolism, Sphingolipid signaling pathway, Glycosphingolipid metabolism Related via 3 shared pathways including Sphingolipid metabolism, Sphingolipid signaling pathway. ASAH1 3 shared pathwaysSphingolipid metabolism, Sphingolipid signaling pathway, Glycosphingolipid metabolism Related via 3 shared pathways including Sphingolipid metabolism, Sphingolipid signaling pathway. ENPP7 2 shared pathwaysSphingolipid metabolism, Glycosphingolipid metabolism Related via 2 shared pathways including Sphingolipid metabolism, Glycosphingolipid metabolism. SMPD4 2 shared pathwaysSphingolipid metabolism, Glycosphingolipid metabolism Related via 2 shared pathways including Sphingolipid metabolism, Glycosphingolipid metabolism.
Schizophrenia Linked via 3 of 5 related genesSMPD3, ASAH2, ASAH1 Diabetes mellitus type 2 Linked via 2 of 5 related genesSMPD3, ASAH1 Liver disease Linked via 2 of 5 related genesASAH2, ENPP7 Obstructive pulmonary disease Linked via 1 of 5 related genesSMPD3 Leukemia Linked via 1 of 5 related genesSMPD3