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

Summary

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

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_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Sphingomyelin synthases 1 and 2 exhibit phosphatidylcholine phospholipase C activity.
Title: Sphingomyelin synthases 1 and 2 exhibit phosphatidylcholine phospholipase C activity.
Sphingomyelin synthase related protein is a mammalian phosphatidylethanolamine phospholipase C.
Title: Sphingomyelin synthase related protein is a mammalian phosphatidylethanolamine phospholipase C.
Effect of liver total sphingomyelin synthase deficiency on plasma lipid metabolism.
Title: Effect of liver total sphingomyelin synthase deficiency on plasma lipid metabolism.
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.
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.
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.
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.
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)

Endonuclease-mediated (3)
Targeted (2) 1 citation

General gene information

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Markers

AI854299 (e-PCR)
- UniSTS:165296

MGI:3693554 (e-PCR)
- UniSTS:498418

UniSTS:498418 (e-PCR)
- UniSTS:498418

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

EC 2.7.8.27

NP_001366512.1

EC 2.7.8.27

NP_001366513.1

EC 2.7.8.27

NP_001366514.1

EC 2.7.8.27

NP_001366515.1

EC 2.7.8.27

NP_001366516.1

EC 2.7.8.27

NP_083219.2

EC 2.7.8.27

XP_011238551.1

EC 2.7.8.27

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_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
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
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
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
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
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
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