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Aliases for SGMS2 Gene

Aliases for SGMS2 Gene

  • Sphingomyelin Synthase 2 2 3 4
  • SMS2 3 4 6
  • EC 2.7.8.27 4 63
  • Phosphatidylcholine:Ceramide Cholinephosphotransferase 2 3
  • SM Synthase 3

External Ids for SGMS2 Gene

Previous GeneCards Identifiers for SGMS2 Gene

  • GC04P108966
  • GC04P108745
  • GC04P104477

Summaries for SGMS2 Gene

Entrez Gene Summary for SGMS2 Gene

  • 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. Three transcript variants encoding the same protein have been found for this gene. There is evidence for more variants, but the full-length nature of their transcripts has not been determined.[provided by RefSeq, Oct 2008]

GeneCards Summary for SGMS2 Gene

SGMS2 (Sphingomyelin Synthase 2) is a Protein Coding gene. Among its related pathways are Sphingolipid metabolism and Sphingolipid metabolism. GO annotations related to this gene include kinase activity and ceramide cholinephosphotransferase activity. An important paralog of this gene is SAMD8.

UniProtKB/Swiss-Prot for SGMS2 Gene

  • Sphingomyelin synthases synthesize the sphingolipid, sphingomyelin, through transfer of the phosphatidyl head group, phosphatidylcholine, on to the primary hydroxyl of ceramide. The reaction is bidirectional depending on the respective levels of the sphingolipid and ceramide. Plasma membrane SMS2 can also convert phosphatidylethanolamine (PE) to ceramide phosphatidylethanolamine (CPE). Major form in liver. Required for cell growth in certain cell types. Regulator of cell surface levels of ceramide, an important mediator of signal transduction and apoptosis. Regulation of sphingomyelin (SM) levels at the cell surface affects insulin sensitivity.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SGMS2 Gene

Genomics for SGMS2 Gene

Regulatory Elements for SGMS2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SGMS2 Gene

Start:
107,824,563 bp from pter
End:
107,915,047 bp from pter
Size:
90,485 bases
Orientation:
Plus strand

Genomic View for SGMS2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SGMS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SGMS2 Gene

Proteins for SGMS2 Gene

  • Protein details for SGMS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NHU3-SMS2_HUMAN
    Recommended name:
    Phosphatidylcholine:ceramide cholinephosphotransferase 2
    Protein Accession:
    Q8NHU3
    Secondary Accessions:
    • A8K2S9
    • B2RA61

    Protein attributes for SGMS2 Gene

    Size:
    365 amino acids
    Molecular mass:
    42280 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Overexpression of the human protein in mouse causes increased non-HDL-sphingomyelin and non-HDL cholesterol levels, decreased HDL-sphingomyelin and HDL-cholesterol levels and increases lipoprotein atherogenic potential

neXtProt entry for SGMS2 Gene

Proteomics data for SGMS2 Gene at MOPED

Selected DME Specific Peptides for SGMS2 Gene

Post-translational modifications for SGMS2 Gene

  • Palmitoylated on Cys-331, Cys-332, Cys-343 and Cys-348; which plays an important role in plasma membrane localization.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SGMS2 Gene

Domains for SGMS2 Gene

Protein Domains for SGMS2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SGMS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NHU3

UniProtKB/Swiss-Prot:

SMS2_HUMAN :
  • Q8NHU3
Family:
  • Belongs to the sphingomyelin synthase family.
genes like me logo Genes that share domains with SGMS2: view

No data available for Gene Families for SGMS2 Gene

Function for SGMS2 Gene

Molecular function for SGMS2 Gene

UniProtKB/Swiss-Prot CatalyticActivity: A ceramide + a phosphatidylcholine = a sphingomyelin + a 1,2-diacyl-sn-glycerol
UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by bacterial PC-phospholipase C inhibitor D609.
UniProtKB/Swiss-Prot Function: Sphingomyelin synthases synthesize the sphingolipid, sphingomyelin, through transfer of the phosphatidyl head group, phosphatidylcholine, on to the primary hydroxyl of ceramide. The reaction is bidirectional depending on the respective levels of the sphingolipid and ceramide. Plasma membrane SMS2 can also convert phosphatidylethanolamine (PE) to ceramide phosphatidylethanolamine (CPE). Major form in liver. Required for cell growth in certain cell types. Regulator of cell surface levels of ceramide, an important mediator of signal transduction and apoptosis. Regulation of sphingomyelin (SM) levels at the cell surface affects insulin sensitivity.

Enzyme Numbers (IUBMB) for SGMS2 Gene

Gene Ontology (GO) - Molecular Function for SGMS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0016301 kinase activity IEA --
GO:0033188 sphingomyelin synthase activity IEA --
GO:0047493 ceramide cholinephosphotransferase activity IDA 14685263
genes like me logo Genes that share ontologies with SGMS2: view
genes like me logo Genes that share phenotypes with SGMS2: view

Animal Models for SGMS2 Gene

MGI Knock Outs for SGMS2:

Animal Model Products

CRISPR Products

miRNA for SGMS2 Gene

miRTarBase miRNAs that target SGMS2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SGMS2

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for SGMS2 Gene

Localization for SGMS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SGMS2 Gene

Cell membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Note=Predominantly plasma membrane, some in Golgi apparatus. Some localization in the perinuclear region where it colocalizes with a sialyltransferase.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SGMS2 Gene COMPARTMENTS Subcellular localization image for SGMS2 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 5
peroxisome 2
cytosol 1

Gene Ontology (GO) - Cellular Components for SGMS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA 14685263
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 14685263
GO:0016020 membrane --
GO:0030173 integral component of Golgi membrane IDA 14685263
genes like me logo Genes that share ontologies with SGMS2: view

Pathways for SGMS2 Gene

genes like me logo Genes that share pathways with SGMS2: view

Pathways by source for SGMS2 Gene

Interacting Proteins for SGMS2 Gene

Gene Ontology (GO) - Biological Process for SGMS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006665 sphingolipid metabolic process TAS --
GO:0006686 sphingomyelin biosynthetic process IDA 14685263
GO:0016310 phosphorylation IEA --
GO:0030148 sphingolipid biosynthetic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with SGMS2: view

Compounds for SGMS2 Gene

(2027) HMDB Compounds for SGMS2 Gene

Compound Synonyms Cas Number PubMed IDs
Cer(d18:0/12:0)
Not Available
Cer(d18:0/14:0)
Not Available
Cer(d18:0/16:0)
Not Available
Cer(d18:0/18:0)
Not Available
Cer(d18:0/18:1(11Z))
Not Available
genes like me logo Genes that share compounds with SGMS2: view

Transcripts for SGMS2 Gene

Unigene Clusters for SGMS2 Gene

Sphingomyelin synthase 2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SGMS2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SGMS2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c · 6d · 6e · 6f ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - - - - -
SP2: - - -
SP3: - - - - - -
SP4: - - - - - -
SP5: - - - - - - -
SP6: - -
SP7:
SP8:

Relevant External Links for SGMS2 Gene

GeneLoc Exon Structure for
SGMS2
ECgene alternative splicing isoforms for
SGMS2

Expression for SGMS2 Gene

mRNA expression in normal human tissues for SGMS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

SOURCE GeneReport for Unigene cluster for SGMS2 Gene Hs.595423

mRNA Expression by UniProt/SwissProt for SGMS2 Gene

Q8NHU3-SMS2_HUMAN
Tissue specificity: Brain, heart, kidney, liver, muscle and stomach. Also expressed in a number of cell lines such as carcinoma HeLa cells, hepatoma Hep-G2 cells, and colon carcinoma Caco-2 cells.
genes like me logo Genes that share expressions with SGMS2: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein expression for SGMS2 Gene

Orthologs for SGMS2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SGMS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SGMS2 35
  • 99.91 (n)
  • 100 (a)
SGMS2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SGMS2 35
  • 90.05 (n)
  • 95.62 (a)
SGMS2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SGMS2 35
  • 92.24 (n)
  • 96.16 (a)
SGMS2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sgms2 35
  • 85.66 (n)
  • 91.51 (a)
Sgms2 16
Sgms2 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SGMS2 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SGMS2 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sgms2 35
  • 87.12 (n)
  • 90.68 (a)
chicken
(Gallus gallus)
Aves SGMS2 35
  • 80.55 (n)
  • 89.04 (a)
SGMS2 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SGMS2 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sgms2 35
  • 73.79 (n)
  • 78.08 (a)
zebrafish
(Danio rerio)
Actinopterygii sgms2 35
  • 62.93 (n)
  • 63.22 (a)
sgms2 36
  • 62 (a)
OneToMany
SGMS2 (1 of 2) 36
  • 54 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sms-1 36
  • 24 (a)
ManyToMany
sms-2 36
  • 27 (a)
ManyToMany
sms-3 36
  • 20 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5178 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10588 36
  • 42 (a)
OneToMany
Species with no ortholog for SGMS2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SGMS2 Gene

ENSEMBL:
Gene Tree for SGMS2 (if available)
TreeFam:
Gene Tree for SGMS2 (if available)

Paralogs for SGMS2 Gene

Paralogs for SGMS2 Gene

Selected SIMAP similar genes for SGMS2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SGMS2: view

Variants for SGMS2 Gene

Sequence variations from dbSNP and Humsavar for SGMS2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs1160677 -- 107,897,601(+) TAGAT(A/C)CTTTT intron-variant
rs1493123 -- 107,896,991(+) CTGAA(C/G)ATTCC intron-variant
rs2047026 -- 107,905,550(+) TGAGG(A/G)ATGCA intron-variant
rs2131462 -- 107,898,735(+) CCCTT(C/G)CCTTT intron-variant
rs3079267 -- 107,898,527(+) AGTAA(-/TA)TGTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SGMS2 Gene

Variant ID Type Subtype PubMed ID
nsv830031 CNV Gain 17160897
esv2677080 CNV Deletion 23128226
esv21916 CNV Loss 19812545
nsv461611 CNV Loss 19166990
dgv5673n71 CNV Loss 21882294
nsv4457 CNV Insertion 18451855

Relevant External Links for SGMS2 Gene

HapMap Linkage Disequilibrium report
SGMS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SGMS2 Gene

Disorders for SGMS2 Gene

Relevant External Links for SGMS2

Genetic Association Database (GAD)
SGMS2
Human Genome Epidemiology (HuGE) Navigator
SGMS2
genes like me logo Genes that share disorders with SGMS2: view

No data available for UniProtKB/Swiss-Prot for SGMS2 Gene

Publications for SGMS2 Gene

  1. Sphingomyelin synthase 2 is palmitoylated at the COOH-terminal tail, which is involved in its localization in plasma membranes. (PMID: 19233134) Tani M. … Kuge O. (Biochem. Biophys. Res. Commun. 2009) 3 4 23
  2. Identification of a family of animal sphingomyelin synthases. (PMID: 14685263) Huitema K. … Holthuis J.C. (EMBO J. 2004) 2 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Both sphingomyelin synthases SMS1 and SMS2 are required for sphingomyelin homeostasis and growth in human HeLa cells. (PMID: 17449912) Tafesse F.G. … Holthuis J.C.M. (J. Biol. Chem. 2007) 3 4
  5. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PMID: 20332099) Kalsi G. … Riley B.P. (Hum. Mol. Genet. 2010) 3 48

Products for SGMS2 Gene

Sources for SGMS2 Gene

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