Smpd2 sphingomyelin phosphodiesterase 2, neutral [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Smpd2provided by MGI
Official Full Name: sphingomyelin phosphodiesterase 2, neutralprovided by MGI
Primary source: MGI:MGI:1278330
See related: Ensembl:ENSMUSG00000019822 AllianceGenome:MGI:1278330
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: nSMase; nSMase1
Summary: This gene encodes a protein with similarity to the human nSMase1 protein. In humans, the nSMase1 protein 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 sphingomyelinase and instead as a lysophospholipase. [provided by RefSeq, Oct 2009]
Expression: Ubiquitous expression in bladder adult (RPKM 41.4), duodenum adult (RPKM 32.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 B1; 10 22.42 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (41363168..41366410, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (41487172..41490370, complement)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Neutral sphingomyelinase inhibition promotes local and network degeneration in vitro and in vivo.
Title: Neutral sphingomyelinase inhibition promotes local and network degeneration in vitro and in vivo.
Neutral Sphingomyelinase 2 Mediates Oxidative Stress Effects on Astrocyte Senescence and Synaptic Plasticity Transcripts.
Title: Neutral Sphingomyelinase 2 Mediates Oxidative Stress Effects on Astrocyte Senescence and Synaptic Plasticity Transcripts.
results suggest that SMase-2 deficiency plays a role in the survival or proliferation of liver cancer stem-like cells, leading to spontaneous tumors, which is associated with tumor-specific effects on lipid homeostasis
Title: Increased liver tumor formation in neutral sphingomyelinase-2-deficient mice.
cells deficient in acid ceramidase (aCDase) also exhibited defects in CCL5 induction, whereas cells deficient in sphingosine kinase-1 and -2 exhibited higher levels of CCL5.
Title: Regulation of CC ligand 5/RANTES by acid sphingomyelinase and acid ceramidase.
nSMase2 has a role in ceramide generation, aberrant apoptosis, and lung injury under cigarette smoke exposure
Title: Neutral sphingomyelinase 2: a novel target in cigarette smoke-induced apoptosis and lung injury.
Peptidoglycan activates the nSMase/ceramide pathway to induce MKK3/6/p38 MAPK activation, which in turn initiates NF-kappaB activation and ultimately induces COX-2 expression in macrophages.
Title: Peptidoglycan induces cyclooxygenase-2 expression in macrophages by activating the neutral sphingomyelinase-ceramide pathway.
NSMase-2 could be involved in IL-1beta-induced JNK activation in hepatocytes
Title: Expression of neutral sphingomyelinase-2 (NSMase-2) in primary rat hepatocytes modulates IL-beta-induced JNK activation.
Nuclear sphingomyelin-synthase and protein kinase C delta are expressed in melanoma cells
Title: Nuclear sphingomyelin-synthase and protein kinase C delta in melanoma cells.
Acid and neutral sphingomyelinase, ceramide synthase, and acid ceramidase have roles in cutaneous aging
Title: Acid and neutral sphingomyelinase, ceramide synthase, and acid ceramidase activities in cutaneous aging.
Neutral sphingomyelinase 1 deficiency in the mouse causes no lipid storage disease. (nSMase 1)
Title: Neutral sphingomyelinase 1 deficiency in the mouse causes no lipid storage disease.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW108287 (e-PCR)
- UniSTS:180033

Smpd2 (e-PCR), detects polymorphism
- UniSTS:507235

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables phosphoric diester hydrolase activity	ISO Inferred from Sequence Orthology more info
enables sphingomyelin phosphodiesterase activity	IBA Inferred from Biological aspect of Ancestor more info
enables sphingomyelin phosphodiesterase activity	IDA Inferred from Direct Assay more info	PubMed
enables sphingomyelin phosphodiesterase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables sphingomyelin phosphodiesterase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in ceramide biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ceramide biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in ceramide metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular signal transduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in response to mechanical stimulus	ISO Inferred from Sequence Orthology more info
involved_in sphingolipid catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in sphingomyelin catabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within sphingomyelin catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sphingomyelin catabolic process	ISO Inferred from Sequence Orthology more info
involved_in sphingomyelin metabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in caveola	IBA Inferred from Biological aspect of Ancestor more info
located_in caveola	ISO Inferred from Sequence Orthology more info
is_active_in cell periphery	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: sphingomyelin phosphodiesterase 2

Names: N-SMase; lyso-PAF-PLC; lyso-platelet-activating factor-phospholipase C; neutral sphingomyelinase 1

NP_033239.1

EC 3.1.4.12

XP_017169351.1

EC 3.1.4.12

XP_030100833.1

EC 3.1.4.12

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_009213.3 → NP_033239.1 sphingomyelin phosphodiesterase 2

See identical proteins and their annotated locations for NP_033239.1

Status: VALIDATED

Source sequence(s)

AC153360

Consensus CDS

CCDS23805.1

UniProtKB/Swiss-Prot

O70572

UniProtKB/TrEMBL

Q8C6H6

Related

ENSMUSP00000019965.7, ENSMUST00000019965.13

Conserved Domains (1) summary

cl00490
Location:14 → 279

EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

RNA

NR_190511.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC153360

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000076.7 Reference GRCm39 C57BL/6J

Range

41363168..41366410 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030244973.2 → XP_030100833.1 sphingomyelin phosphodiesterase 2 isoform X2

Conserved Domains (1) summary

cl00490
Location:37 → 143

EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
XM_017313862.2 → XP_017169351.1 sphingomyelin phosphodiesterase 2 isoform X1

Conserved Domains (1) summary

cl00490
Location:85 → 294

EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily