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    Smpd3 sphingomyelin phosphodiesterase 3, neutral [ Mus musculus (house mouse) ]

    Gene ID: 58994, updated on 9-Dec-2024

    Summary

    Official Symbol
    Smpd3provided by MGI
    Official Full Name
    sphingomyelin phosphodiesterase 3, neutralprovided by MGI
    Primary source
    MGI:MGI:1927578
    See related
    Ensembl:ENSMUSG00000031906 AllianceGenome:MGI:1927578
    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
    fro; Nsm2; nSMase2; 4631433G07Rik
    Summary
    Enables identical protein binding activity; neutral sphingomyelin phosphodiesterase activity; and phospholipid binding activity. Involved in sphingomyelin metabolic process. Acts upstream of or within several processes, including bone development; enzyme-linked receptor protein signaling pathway; and sphingolipid metabolic process. Located in Golgi cis cisterna and plasma membrane. Is expressed in several structures, including alimentary system; limb; nervous system; sensory organ; and skeleton. Used to study hypopituitarism; osteogenesis imperfecta; osteogenesis imperfecta type 2; and osteogenesis imperfecta type 3. Orthologous to human SMPD3 (sphingomyelin phosphodiesterase 3). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in colon adult (RPKM 31.2), large intestine adult (RPKM 26.1) and 17 other tissues See more
    Orthologs
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    Genomic context

    See Smpd3 in Genome Data Viewer
    Location:
    8 D3; 8 53.12 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (106979180..107064597, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (106252548..106337965, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene solute carrier family 7, member 6 opposite strand Neighboring gene protein arginine N-methyltransferase 7 Neighboring gene RIKEN cDNA 4930506A18 gene Neighboring gene STARR-positive B cell enhancer ABC_E111 Neighboring gene STARR-positive B cell enhancer ABC_E5038 Neighboring gene predicted gene, 39238 Neighboring gene predicted gene, 34026

    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?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (7 hits/80 screens)

    Associated conditions

    Description Tests
    fragilitas ossium
    GeneReviews: Not available

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Items 1 - 25 of 60
    Process Evidence Code Pubs
    acts_upstream_of_or_within BMP signaling pathway PubMed 
    acts_upstream_of_or_within DNA biosynthetic process PubMed 
    acts_upstream_of_or_within G1 to G0 transition PubMed 
    involved_in artery smooth muscle contraction  
    acts_upstream_of_or_within bone development PubMed 
    acts_upstream_of_or_within bone growth PubMed 
    acts_upstream_of_or_within bone mineralization PubMed 
    acts_upstream_of_or_within bone mineralization PubMed 
    acts_upstream_of_or_within cartilage development PubMed 
    acts_upstream_of_or_within cartilage development PubMed 
    acts_upstream_of_or_within cellular response to hydrogen peroxide PubMed 
    acts_upstream_of_or_within cellular response to magnesium ion PubMed 
    acts_upstream_of_or_within cellular response to oxidised low-density lipoprotein particle stimulus PubMed 
    acts_upstream_of_or_within cellular response to peptide PubMed 
    acts_upstream_of_or_within cellular response to reactive oxygen species PubMed 
    acts_upstream_of_or_within cellular response to redox state PubMed 
    acts_upstream_of_or_within cellular response to tumor necrosis factor PubMed 
    acts_upstream_of_or_within ceramide metabolic process PubMed 
    acts_upstream_of_or_within chondrocyte development PubMed 
    acts_upstream_of_or_within chondrocyte development involved in endochondral bone morphogenesis PubMed 
    acts_upstream_of_or_within collagen metabolic process PubMed 
    acts_upstream_of_or_within dentinogenesis PubMed 
    involved_in dopamine uptake  
    acts_upstream_of_or_within endochondral ossification PubMed 
    acts_upstream_of_or_within extracellular matrix assembly PubMed 
    acts_upstream_of_or_within hematopoietic progenitor cell differentiation PubMed 
    acts_upstream_of_or_within lung alveolus development PubMed 
    acts_upstream_of_or_within lung development PubMed 
    acts_upstream_of_or_within mitotic nuclear division PubMed 
    acts_upstream_of_or_within multicellular organism growth PubMed 
    acts_upstream_of_or_within multicellular organism growth PubMed 
    involved_in negative regulation of cytosolic calcium ion concentration  
    acts_upstream_of_or_within negative regulation of hyaluronan biosynthetic process PubMed 
    acts_upstream_of_or_within negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction PubMed 
    acts_upstream_of_or_within ossification PubMed 
    acts_upstream_of_or_within peptide hormone secretion PubMed 
    acts_upstream_of_or_within platelet-derived growth factor receptor signaling pathway PubMed 
    acts_upstream_of_or_within polysaccharide transport PubMed 
    involved_in positive regulation of ceramide biosynthetic process  
    involved_in positive regulation of exosomal secretion  
    acts_upstream_of_or_within positive regulation of mitotic nuclear division PubMed 
    involved_in positive regulation of nitric oxide biosynthetic process  
    involved_in positive regulation of non-canonical NF-kappaB signal transduction  
    acts_upstream_of_or_within positive regulation of smooth muscle cell proliferation PubMed 
    acts_upstream_of_or_within regulation of cartilage development PubMed 
    acts_upstream_of_or_within regulation of hyaluronan biosynthetic process PubMed 
    acts_upstream_of_or_within regulation of leukocyte migration PubMed 
    acts_upstream_of_or_within regulation of protein phosphorylation PubMed 
    acts_upstream_of_or_within respiratory system development PubMed 
    acts_upstream_of_or_within signal transduction PubMed 
    acts_upstream_of_or_within signal transduction PubMed 
    acts_upstream_of_or_within skeletal system development PubMed 
    acts_upstream_of_or_within skeletal system development PubMed 
    acts_upstream_of_or_within sphingolipid mediated signaling pathway PubMed 
    acts_upstream_of_or_within sphingolipid metabolic process PubMed 
    acts_upstream_of_or_within sphingomyelin catabolic process PubMed 
    involved_in sphingomyelin catabolic process  
    involved_in sphingomyelin metabolic process  
    acts_upstream_of_or_within sphingomyelin metabolic process PubMed 
    involved_in sphingomyelin metabolic process PubMed 
    Items 1 - 25 of 60
    Component Evidence Code Pubs
    located_in Golgi apparatus PubMed 
    located_in Golgi cis cisterna PubMed 
    located_in Golgi membrane  
    is_active_in cytoplasm  
    located_in extracellular region  
    located_in plasma membrane PubMed 

    General protein information

    Preferred Names
    sphingomyelin phosphodiesterase 3
    Names
    nSMase-2
    neutral sphingomyelinase 2
    neutral sphingomyelinase II
    NP_067466.1
    XP_006531304.1
    XP_011246764.1
    XP_011246765.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_021491.4NP_067466.1  sphingomyelin phosphodiesterase 3

      See identical proteins and their annotated locations for NP_067466.1

      Status: VALIDATED

      Source sequence(s)
      AC124544, AC134615
      Consensus CDS
      CCDS22634.1
      UniProtKB/Swiss-Prot
      Q3UTQ5, Q9JJY3
      Related
      ENSMUSP00000069255.8, ENSMUST00000067512.8
      Conserved Domains (2) summary
      cd09078
      Location:336646
      nSMase; Neutral sphingomyelinases (nSMase) catalyze the hydrolysis of sphingomyelin in biological membranes to ceramide and phosphorylcholine
      PRK12372
      Location:181305
      PRK12372; ribonuclease III; Reviewed

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      106979180..107064597 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006531241.5XP_006531304.1  sphingomyelin phosphodiesterase 3 isoform X1

      See identical proteins and their annotated locations for XP_006531304.1

      UniProtKB/Swiss-Prot
      Q3UTQ5, Q9JJY3
      Conserved Domains (2) summary
      cd09078
      Location:336646
      nSMase; Neutral sphingomyelinases (nSMase) catalyze the hydrolysis of sphingomyelin in biological membranes to ceramide and phosphorylcholine
      PRK12372
      Location:181305
      PRK12372; ribonuclease III; Reviewed
    2. XM_011248462.1XP_011246764.1  sphingomyelin phosphodiesterase 3 isoform X1

      See identical proteins and their annotated locations for XP_011246764.1

      UniProtKB/Swiss-Prot
      Q3UTQ5, Q9JJY3
      Related
      ENSMUSP00000148282.2, ENSMUST00000212896.2
      Conserved Domains (2) summary
      cd09078
      Location:336646
      nSMase; Neutral sphingomyelinases (nSMase) catalyze the hydrolysis of sphingomyelin in biological membranes to ceramide and phosphorylcholine
      PRK12372
      Location:181305
      PRK12372; ribonuclease III; Reviewed
    3. XM_011248463.4XP_011246765.1  sphingomyelin phosphodiesterase 3 isoform X1

      See identical proteins and their annotated locations for XP_011246765.1

      UniProtKB/Swiss-Prot
      Q3UTQ5, Q9JJY3
      Conserved Domains (2) summary
      cd09078
      Location:336646
      nSMase; Neutral sphingomyelinases (nSMase) catalyze the hydrolysis of sphingomyelin in biological membranes to ceramide and phosphorylcholine
      PRK12372
      Location:181305
      PRK12372; ribonuclease III; Reviewed
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