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

Gene ID: 74442, updated on 11-Apr-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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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
  • 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. Sphingomyelin synthase 2 is a positive regulator of the CSF1R-STAT3 pathway in pancreatic cancer-associated macrophage. He S, et al. Front Pharmacol, 2022. PMID 36324684, Free PMC Article
  2. Modulation of function and structure of stratum corneum in sphingomyelin synthase 2-deficient mice. Honma N, et al. Chem Phys Lipids, 2022 Nov. PMID 36279928
  3. Sphingomyelin synthase related protein is a mammalian phosphatidylethanolamine phospholipase C. Chiang YP, et al. Biochim Biophys Acta Mol Cell Biol Lipids, 2021 Nov. PMID 34332077, Free PMC Article
  4. 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. Sugimoto M, et al. Biochem Biophys Res Commun, 2020 Dec 17. PMID 33059919
  5. 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

See all (70) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. Sphingomyelin synthases 1 and 2 exhibit phosphatidylcholine phospholipase C activity.
    Title: Sphingomyelin synthases 1 and 2 exhibit phosphatidylcholine phospholipase C activity.
  4. Sphingomyelin synthase related protein is a mammalian phosphatidylethanolamine phospholipase C.
    Title: Sphingomyelin synthase related protein is a mammalian phosphatidylethanolamine phospholipase C.
  5. Effect of liver total sphingomyelin synthase deficiency on plasma lipid metabolism.
    Title: Effect of liver total sphingomyelin synthase deficiency on plasma lipid metabolism.
  6. 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.
  7. 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.
  8. 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.
  9. Investigated role of sphingomyelin synthase 1 (SMS1) and sphingomyelin synthase 2 (SMS2) in osteoblast differentiation in order to better understand the role SMS1 and SMS2 play in skeletal development.
    Title: Deficiency of sphingomyelin synthase 1 but not sphingomyelin synthase 2 reduces bone formation due to impaired osteoblast differentiation.
  10. These results suggest that SMS2 regulates osteoclast differentiation by inducing RANKL expression via RXRalpha.
    Title: Knockdown of sphingomyelin synthase 2 inhibits osteoclastogenesis by decreasing RANKL expression in mouse primary osteoblasts.
Submit: New GeneRIF Correction See all GeneRIFs (32)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (2)  1 citation
  • Endonuclease-mediated (3) 

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 phosphotransferase activity, for other substituted phosphate groups 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
  
enables transferase activity IEA
Inferred from Electronic Annotation
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 
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within phosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of bone mineralization ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within sphingolipid metabolic process IEA
Inferred from Electronic Annotation
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 membrane 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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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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