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

Gene ID: 20598, updated on 9-Dec-2024

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
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Genomic context

See Smpd2 in Genome Data Viewer
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_000076.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E2321 Neighboring gene zinc finger and BTB domain containing 24 Neighboring gene STARR-seq mESC enhancer starr_26452 Neighboring gene predicted gene, 51797 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:41197812-41197921 Neighboring gene microtubule associated monooxygenase, calponin and LIM domain containing 1 Neighboring gene peptidylprolyl isomerase (cyclophilin)-like 6 Neighboring gene STARR-positive B cell enhancer ABC_E2932 Neighboring gene STARR-positive B cell enhancer ABC_E5127 Neighboring gene CD164 antigen

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

Preferred Names
sphingomyelin phosphodiesterase 2
Names
N-SMase
lyso-PAF-PLC
lyso-platelet-activating factor-phospholipase C
neutral sphingomyelinase 1
NP_033239.1
XP_017169351.1
XP_030100833.1

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)

  1. NM_009213.3NP_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:14279
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

RNA

  1. 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

  1. NC_000076.7 Reference GRCm39 C57BL/6J

    Range
    41363168..41366410 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    cl00490
    Location:37143
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  2. XM_017313862.2XP_017169351.1  sphingomyelin phosphodiesterase 2 isoform X1

    Conserved Domains (1) summary
    cl00490
    Location:85294
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily