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    Sgms2 sphingomyelin synthase 2 [ Mus musculus (house mouse) ]

    Gene ID: 74442, updated on 14-Nov-2024

    Summary

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    Official Symbol
    Sgms2provided by MGI
    Official Full Name
    sphingomyelin synthase 2provided by MGI
    Primary source
    MGI:MGI:1921692
    See related
    Ensembl:ENSMUSG00000050931 AllianceGenome:MGI:1921692
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    4933405A16Rik; 5133401H06Rik
    Summary
    Sphingomyelin, a major component of cell and Golgi membranes, is made by the transfer of phosphocholine from phosphatidylcholine onto ceramide, with diacylglycerol as a side product. The protein encoded by this gene is an enzyme that catalyzes this reaction primarily at the cell membrane. The synthesis is reversible, and this enzyme can catalyze the reaction in either direction. The encoded protein is required for cell growth. [provided by RefSeq, Oct 2008]
    Expression
    Broad expression in testis adult (RPKM 10.6), kidney adult (RPKM 7.9) and 20 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Sgms2 in Genome Data Viewer
    Location:
    3 G3; 3 60.91 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (131112634..131197204, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (131318985..131491443, complement)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E11712 Neighboring gene RIKEN cDNA 4930534D22 gene Neighboring gene cytochrome P450, family 2, subfamily u, polypeptide 1 Neighboring gene STARR-seq mESC enhancer starr_09003 Neighboring gene STARR-seq mESC enhancer starr_09004 Neighboring gene STARR-seq mESC enhancer starr_09005 Neighboring gene predicted gene 43116 Neighboring gene predicted gene, 36753 Neighboring gene predicted gene, 36863 Neighboring gene STARR-seq mESC enhancer starr_09007 Neighboring gene CapStarr-seq enhancer MGSCv37_chr3:131227425-131227534 Neighboring gene 3'-phosphoadenosine 5'-phosphosulfate synthase 1 Neighboring gene predicted gene, 36917

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data 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

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    Related articles in PubMed

    1. Deficiency of sphingomyelin synthase 2 prolongs survival by the inhibition of lymphoma infiltration through ICAM-1 reduction. Taniguchi M, et al. FASEB J, 2020 Mar. PMID 31970839
    2. Imaging Mass Spectrometry Reveals Acyl-Chain- and Region-Specific Sphingolipid Metabolism in the Kidneys of Sphingomyelin Synthase 2-Deficient Mice. Sugimoto M, et al. PLoS One, 2016. PMID 27010944, Free PMC Article
    3. Possible roles of long-chain sphingomyelines and sphingomyelin synthase 2 in mouse macrophage inflammatory response. Sakamoto H, et al. Biochem Biophys Res Commun, 2017 Jan 8. PMID 27836537
    4. Stressful learning paradigm precludes manifestation of cognitive ability in sphingomyelin synthase-2 knockout mice. Wang M, et al. Behav Brain Res, 2017 Feb 15. PMID 27840247
    5. Prenatal alcohol exposure inducing the apoptosis of mossy cells in hippocampus of SMS2-/- mice. Wang L, et al. Environ Toxicol Pharmacol, 2015 Nov. PMID 26562048

    See all (74) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SMS2 siRNA inhibits pancreatic tumor growth by tumor microenvironment modulation.
      Title: SMS2 siRNA inhibits pancreatic tumor growth by tumor microenvironment modulation.
    2. Disruption of sphingomyelin synthase 2 gene alleviates cognitive impairment in a mouse model of Alzheimer's disease.
      Title: Disruption of sphingomyelin synthase 2 gene alleviates cognitive impairment in a mouse model of Alzheimer's disease.
    3. Modulation of function and structure of stratum corneum in sphingomyelin synthase 2-deficient mice.
      Title: Modulation of function and structure of stratum corneum in sphingomyelin synthase 2-deficient mice.
    4. SMS2 deficiency impairs PKCdelta-regulated B cell tolerance in the germinal center.
      Title: SMS2 deficiency impairs PKCδ-regulated B cell tolerance in the germinal center.
    5. Sphingomyelin synthases 1 and 2 exhibit phosphatidylcholine phospholipase C activity.
      Title: Sphingomyelin synthases 1 and 2 exhibit phosphatidylcholine phospholipase C activity.
    6. Sphingomyelin synthase related protein is a mammalian phosphatidylethanolamine phospholipase C.
      Title: Sphingomyelin synthase related protein is a mammalian phosphatidylethanolamine phospholipase C.
    7. Effect of liver total sphingomyelin synthase deficiency on plasma lipid metabolism.
      Title: Effect of liver total sphingomyelin synthase deficiency on plasma lipid metabolism.
    8. Sphingomyelin synthase 2 loss suppresses steatosis but exacerbates fibrosis in the liver of mice fed with choline-deficient, L-amino acid-defined, high-fat diet.
      Title: Sphingomyelin synthase 2 loss suppresses steatosis but exacerbates fibrosis in the liver of mice fed with choline-deficient, L-amino acid-defined, high-fat diet.
    9. Sphingomyelin Synthase 2 Inhibition Ameliorates Cerebral Ischemic Reperfusion Injury Through Reducing the Recruitment of Toll-Like Receptor 4 to Lipid Rafts.
      Title: Sphingomyelin Synthase 2 Inhibition Ameliorates Cerebral Ischemic Reperfusion Injury Through Reducing the Recruitment of Toll-Like Receptor 4 to Lipid Rafts.
    10. Sgms2-knockout and wild-type control mice were exposed to cigarette smoke for 6 months.Chronic cigarette smoke reduces SGMS activity and gene expression in mouse lungs. Sgms2-deficient mice have enhanced airway and tissue resistance after chronic cigarette smoke exposure, but similar degrees of emphysema to wild-type. Sgms2(-/-) mice had greater AKT phosphorylation, peribronchial collagen deposition and protease activity.
      Title: Airway Resistance Caused by Sphingomyelin Synthase 2 Insufficiency in Response to Cigarette Smoke.
    Submit: New GeneRIF Correction See all GeneRIFs (34)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Targeted (2)  1 citation

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ceramide cholinephosphotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ceramide cholinephosphotransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ceramide cholinephosphotransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables ceramide phosphoethanolamine synthase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sphingomyelin synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables sphingomyelin synthase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sphingomyelin synthase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables sphingomyelin synthase 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
    		  
    acts_upstream_of_or_within ceramide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within ceramide phosphoethanolamine biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of bone mineralization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of bone mineralization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sphingomyelin biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within sphingomyelin biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sphingomyelin biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sphingomyelin biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in sphingomyelin biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in Golgi membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    phosphatidylcholine:ceramide cholinephosphotransferase 2
    NP_001366511.1
    NP_001366512.1
    NP_001366513.1
    NP_001366514.1
    NP_001366515.1
    NP_001366516.1
    NP_083219.2
    XP_011238551.1

    NCBI Reference Sequences (RefSeq)

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    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_001379582.1 → NP_001366511.1  phosphatidylcholine:ceramide cholinephosphotransferase 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All seven variants encode the same protein.
      Source sequence(s)
      AC165416
      UniProtKB/Swiss-Prot
      Q149I0, Q9D4B1
      Conserved Domains (1) summary
      pfam14360
      Location:220 → 293
      PAP2_C; PAP2 superfamily C-terminal

    2. NM_001379583.1 → NP_001366512.1  phosphatidylcholine:ceramide cholinephosphotransferase 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All seven variants encode the same protein.
      Source sequence(s)
      AC165333, AC165416
      UniProtKB/Swiss-Prot
      Q149I0, Q9D4B1
      Conserved Domains (1) summary
      pfam14360
      Location:220 → 293
      PAP2_C; PAP2 superfamily C-terminal

    3. NM_001379584.1 → NP_001366513.1  phosphatidylcholine:ceramide cholinephosphotransferase 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All seven variants encode the same protein.
      Source sequence(s)
      AC165333, AC165416
      UniProtKB/Swiss-Prot
      Q149I0, Q9D4B1
      Conserved Domains (1) summary
      pfam14360
      Location:220 → 293
      PAP2_C; PAP2 superfamily C-terminal

    4. NM_001379585.1 → NP_001366514.1  phosphatidylcholine:ceramide cholinephosphotransferase 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. All seven variants encode the same protein.
      Source sequence(s)
      AC165333, AC165416
      UniProtKB/Swiss-Prot
      Q149I0, Q9D4B1
      Conserved Domains (1) summary
      pfam14360
      Location:220 → 293
      PAP2_C; PAP2 superfamily C-terminal

    5. NM_001379586.1 → NP_001366515.1  phosphatidylcholine:ceramide cholinephosphotransferase 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. All seven variants encode the same protein.
      Source sequence(s)
      AC165333, AC165416
      UniProtKB/Swiss-Prot
      Q149I0, Q9D4B1
      Conserved Domains (1) summary
      pfam14360
      Location:220 → 293
      PAP2_C; PAP2 superfamily C-terminal

    6. NM_001379587.1 → NP_001366516.1  phosphatidylcholine:ceramide cholinephosphotransferase 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. All seven variants encode the same protein.
      Source sequence(s)
      AC165333, AC165416
      UniProtKB/Swiss-Prot
      Q149I0, Q9D4B1
      Conserved Domains (1) summary
      pfam14360
      Location:220 → 293
      PAP2_C; PAP2 superfamily C-terminal

    7. NM_028943.6 → NP_083219.2  phosphatidylcholine:ceramide cholinephosphotransferase 2

      See identical proteins and their annotated locations for NP_083219.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All seven variants encode the same protein.
      Source sequence(s)
      AC165416
      Consensus CDS
      CCDS17843.1
      UniProtKB/Swiss-Prot
      Q149I0, Q9D4B1
      Related
      ENSMUSP00000087713.5, ENSMUST00000090246.5
      Conserved Domains (1) summary
      pfam14360
      Location:220 → 293
      PAP2_C; PAP2 superfamily C-terminal

    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_000069.7 Reference GRCm39 C57BL/6J

      Range
      131112634..131197204 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011240249.4 → XP_011238551.1  phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform X1

      See identical proteins and their annotated locations for XP_011238551.1

      UniProtKB/Swiss-Prot
      Q149I0, Q9D4B1
      Conserved Domains (1) summary
      pfam14360
      Location:220 → 293
      PAP2_C; PAP2 superfamily C-terminal
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D4B1.2 GenPept UniProtKB/Swiss-Prot:Q9D4B1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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