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Aliases for SMPD2 Gene

Aliases for SMPD2 Gene

  • Sphingomyelin Phosphodiesterase 2, Neutral Membrane (Neutral Sphingomyelinase) 2 3
  • Lyso-Platelet-Activating Factor-Phospholipase C 3 4
  • Neutral Sphingomyelinase 3 4
  • Lyso-PAF-PLC 3 4
  • N-SMase 3 4
  • NSMASE 3 4
  • Sphingomyelin Phosphodiesterase 2 3
  • EC 3.1.4.12 4
  • NSMASE1 3
  • ISC1 3

External Ids for SMPD2 Gene

Previous GeneCards Identifiers for SMPD2 Gene

  • GC06P109597
  • GC06P109784
  • GC06P109807
  • GC06P109868
  • GC06P109761
  • GC06P107328

Summaries for SMPD2 Gene

Entrez Gene Summary for SMPD2 Gene

  • This gene encodes a protein which was initially identified as a sphingomyelinase based on sequence similarity between bacterial sphingomyelinases and a yeast protein. Subsequent studies showed that its biological function is less likely to be as a sphingomyelinase and instead as a lysophospholipase. [provided by RefSeq, Oct 2009]

GeneCards Summary for SMPD2 Gene

SMPD2 (Sphingomyelin Phosphodiesterase 2, Neutral Membrane (Neutral Sphingomyelinase)) is a Protein Coding gene. Diseases associated with SMPD2 include lipid storage disease. Among its related pathways are Signaling by FGFR and Signaling by GPCR. GO annotations related to this gene include sphingomyelin phosphodiesterase activity.

UniProtKB/Swiss-Prot for SMPD2 Gene

  • Converts sphingomyelin to ceramide. Hydrolyze 1-acyl-2-lyso-sn-glycero-3-phosphocholine (lyso-PC) and 1-O-alkyl-2-lyso-sn-glycero-3-phosphocholine (lyso-platelet-activating factor). The physiological substrate seems to be Lyso-PAF

Gene Wiki entry for SMPD2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMPD2 Gene

Genomics for SMPD2 Gene

Regulatory Elements for SMPD2 Gene

Epigenetics Products

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

Genomic Location for SMPD2 Gene

Start:
109,440,728 bp from pter
End:
109,443,922 bp from pter
Size:
3,195 bases
Orientation:
Plus strand

Genomic View for SMPD2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SMPD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMPD2 Gene

Proteins for SMPD2 Gene

  • Protein details for SMPD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60906-NSMA_HUMAN
    Recommended name:
    Sphingomyelin phosphodiesterase 2
    Protein Accession:
    O60906
    Secondary Accessions:
    • Q5TED1
    • Q9BWR3

    Protein attributes for SMPD2 Gene

    Size:
    423 amino acids
    Molecular mass:
    47646 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available

neXtProt entry for SMPD2 Gene

Proteomics data for SMPD2 Gene at MOPED

Post-translational modifications for SMPD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SMPD2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SMPD2 (SMPD2)

No data available for DME Specific Peptides for SMPD2 Gene

Domains for SMPD2 Gene

Protein Domains for SMPD2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O60906

UniProtKB/Swiss-Prot:

NSMA_HUMAN :
  • O60906
Family:
  • Belongs to the neutral sphingomyelinase family.
genes like me logo Genes that share domains with SMPD2: view

No data available for Gene Families for SMPD2 Gene

Function for SMPD2 Gene

Molecular function for SMPD2 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: pH dependence: Optimum pH is 6.5-7.5.;
UniProtKB/Swiss-Prot CatalyticActivity: Sphingomyelin + H(2)O = N-acylsphingosine + phosphocholine
UniProtKB/Swiss-Prot Function: Converts sphingomyelin to ceramide. Hydrolyze 1-acyl-2-lyso-sn-glycero-3-phosphocholine (lyso-PC) and 1-O-alkyl-2-lyso-sn-glycero-3-phosphocholine (lyso-platelet-activating factor). The physiological substrate seems to be Lyso-PAF

Enzyme Numbers (IUBMB) for SMPD2 Gene

Gene Ontology (GO) - Molecular Function for SMPD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004767 sphingomyelin phosphodiesterase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SMPD2: view

Phenotypes for SMPD2 Gene

genes like me logo Genes that share phenotypes with SMPD2: view

Animal Models for SMPD2 Gene

MGI Knock Outs for SMPD2:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SMPD2

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for SMPD2 Gene

Localization for SMPD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMPD2 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMPD2 Gene COMPARTMENTS Subcellular localization image for SMPD2 gene
Compartment Confidence
plasma membrane 4
cytosol 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for SMPD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9520418
GO:0005901 caveola IEA --
GO:0016020 membrane --
genes like me logo Genes that share ontologies with SMPD2: view

Pathways for SMPD2 Gene

genes like me logo Genes that share pathways with SMPD2: view

UniProtKB/Swiss-Prot O60906-NSMA_HUMAN

  • Pathway: Lipid metabolism; sphingolipid metabolism

Gene Ontology (GO) - Biological Process for SMPD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006665 sphingolipid metabolic process TAS --
GO:0006684 sphingomyelin metabolic process TAS 9520418
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0009612 response to mechanical stimulus IEA --
GO:0035556 intracellular signal transduction IEA --
genes like me logo Genes that share ontologies with SMPD2: view

Compounds for SMPD2 Gene

(154) HMDB Compounds for SMPD2 Gene

Compound Synonyms Cas Number PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • Sulfatide (d18:1/12:0)
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • Sulfatide (d18:1/14:0)
Not Available
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • Sulfatide (d18:1/16:0)
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • Sulfatide (d18:1/18:0)
244215-65-4
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))
  • Sulfatide (d18:1/18:1(9Z))
Not Available

(20) Novoseek inferred chemical compound relationships for SMPD2 Gene

Compound -log(P) Hits PubMed IDs
ceramide 92 55
c2ceramide 75.3 3
manumycin 73.7 3
phosphorylcholine 62.3 2
lactosylceramide 54.4 1
genes like me logo Genes that share compounds with SMPD2: view

Transcripts for SMPD2 Gene

Unigene Clusters for SMPD2 Gene

Sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SMPD2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMPD2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b
SP1: - - -
SP2: - - -
SP3: -
SP4: - -
SP5:
SP6: -

Relevant External Links for SMPD2 Gene

GeneLoc Exon Structure for
SMPD2
ECgene alternative splicing isoforms for
SMPD2

Expression for SMPD2 Gene

mRNA expression in normal human tissues for SMPD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SMPD2 Gene

This gene is overexpressed in Testis (6.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SMPD2 Gene

SOURCE GeneReport for Unigene cluster for SMPD2 Gene Hs.55235

genes like me logo Genes that share expressions with SMPD2: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for SMPD2 Gene

Orthologs for SMPD2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SMPD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMPD2 35
  • 99.37 (n)
  • 99.05 (a)
SMPD2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SMPD2 35
  • 87.47 (n)
  • 84.87 (a)
SMPD2 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMPD2 35
  • 86.05 (n)
  • 85.34 (a)
SMPD2 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smpd2 35
  • 81.86 (n)
  • 77.09 (a)
Smpd2 16
Smpd2 36
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SMPD2 36
  • 55 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smpd2 35
  • 83.18 (n)
  • 79.15 (a)
chicken
(Gallus gallus)
Aves SMPD2 35
  • 65.3 (n)
  • 56.92 (a)
SMPD2 36
  • 44 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMPD2 36
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smpd2 35
  • 55.52 (n)
  • 49.69 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC797914 35
  • 54.99 (n)
  • 49.84 (a)
SMPD2 (2 of 2) 36
  • 40 (a)
OneToMany
smpd2a 36
  • 41 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008053 35
  • 51.21 (n)
  • 41.67 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12034 35
  • 48.27 (n)
  • 36.92 (a)
CG12034 36
  • 27 (a)
OneToOne
CG12034 37
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea T27F6.6 35
  • 49.83 (n)
  • 42.51 (a)
T27F6.6 36
  • 32 (a)
OneToOne
T27F6.6 37
  • 41 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ISC1 36
  • 22 (a)
OneToOne
ISC1 38
Species with no ortholog for SMPD2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 SMPD2 Gene

ENSEMBL:
Gene Tree for SMPD2 (if available)
TreeFam:
Gene Tree for SMPD2 (if available)

Paralogs for SMPD2 Gene

No data available for Paralogs for SMPD2 Gene

Variants for SMPD2 Gene

Sequence variations from dbSNP and Humsavar for SMPD2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs1476386 -- 109,443,201(+) GTAGC(C/T)GGGAG intron-variant
rs1476387 - 109,443,332(+) CACAG(A/G/T)GGCAC synonymous-codon, reference, missense
rs146318470 -- 109,443,552(+) TGCTA(A/C)AGGAG reference, missense
rs199811581 -- 109,443,313(+) CACTA(C/T)AGGCT reference, missense
rs200204098 -- 109,443,459(+) CCCGC(C/T)TGAAG intron-variant

Relevant External Links for SMPD2 Gene

HapMap Linkage Disequilibrium report
SMPD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SMPD2 Gene

Disorders for SMPD2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for SMPD2 Gene including...

Search for SMPD2 Gene in MalaCards »

(1) University of Copenhagen DISEASES for SMPD2 Gene

(7) Novoseek inferred disease relationships for SMPD2 Gene

Disease -log(P) Hits PubMed IDs
necrosis 50.4 6
tumors 28.6 5
heart failure 8.48 2
atherosclerosis 3.52 3
leukemia 0 1

Relevant External Links for SMPD2

Genetic Association Database (GAD)
SMPD2
Human Genome Epidemiology (HuGE) Navigator
SMPD2
genes like me logo Genes that share disorders with SMPD2: view

No data available for UniProtKB/Swiss-Prot for SMPD2 Gene

Publications for SMPD2 Gene

  1. Cloned mammalian neutral sphingomyelinase: functions in sphingolipid signaling? (PMID: 9520418) Tomiuk S. … Stoffel W. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 23
  2. Function of the cloned putative neutral sphingomyelinase as lyso- platelet activating factor-phospholipase C. (PMID: 10608884) Sawai H. … Hannun Y.A. (J. Biol. Chem. 1999) 3 4 23
  3. Human immunodeficiency virus type 1 gp120 induces apoptosis in human primary neurons through redox-regulated activation of neutral sphingomyelinase. (PMID: 15509740) Jana A. … Pahan K. (J. Neurosci. 2004) 3 23
  4. Neutral sphingomyelinase 2 is palmitoylated on multiple cysteine residues. Role of palmitoylation in subcellular localization. (PMID: 17272284) Tani M. … Hannun Y.A. (J. Biol. Chem. 2007) 3 23
  5. Impaired sphingomyelinase activity and epidermal differentiation in atopic dermatitis. (PMID: 15175033) Jensen J.M. … Proksch E. (J. Invest. Dermatol. 2004) 3 23

Products for SMPD2 Gene

Sources for SMPD2 Gene

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