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Aliases for SMPD2 Gene

Aliases for SMPD2 Gene

  • Sphingomyelin Phosphodiesterase 2 2 3 5
  • Neutral Sphingomyelinase 2 3 4
  • Sphingomyelin Phosphodiesterase 2, Neutral Membrane (Neutral Sphingomyelinase) 2 3
  • Lyso-Platelet-Activating Factor-Phospholipase C 3 4
  • Lyso-PAF-PLC 3 4
  • N-SMase 3 4
  • NSMASE 3 4
  • 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) is a Protein Coding gene. Diseases associated with SMPD2 include lipid storage disease. Among its related pathways are Signaling by GPCR and Metabolism. 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

Promoters for SMPD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SMPD2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SMPD2 Gene

Chromosome:
6
Start:
109,440,646 bp from pter
End:
109,443,922 bp from pter
Size:
3,277 bases
Orientation:
Plus strand

Genomic View for SMPD2 Gene

Genes around SMPD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMPD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
REFSEQ proteins:

Antibody Products

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

No data available for DME Specific Peptides for SMPD2 Gene

Domains & Families for SMPD2 Gene

Protein Domains for SMPD2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O60906

UniProtKB/Swiss-Prot:

NSMA_HUMAN :
  • Belongs to the neutral sphingomyelinase family.
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

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

Animal Models for SMPD2 Gene

MGI Knock Outs for SMPD2:

Animal Model Products

  • Taconic Biosciences Mouse Models for SMPD2

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets 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 5
mitochondrion 3
cytosol 2
lysosome 2
vacuole 2
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for SMPD2 Gene

Pathways & Interactions 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:0006684 sphingomyelin metabolic process TAS 9520418
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0009612 response to mechanical stimulus IEA --
GO:0044281 small molecule metabolic process TAS --
GO:0097190 apoptotic signaling pathway TAS --
genes like me logo Genes that share ontologies with SMPD2: view

No data available for SIGNOR curated interactions for SMPD2 Gene

Drugs & Compounds for SMPD2 Gene

(9) Drugs for SMPD2 Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphocholine Experimental Pharma 0
Magnesium Nutra 0

(134) Additional Compounds for SMPD2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
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:

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 (x6.0).

Protein differential expression in normal tissues from HIPED for SMPD2 Gene

This gene is overexpressed in Nasal epithelium (64.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SMPD2: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
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
chimpanzee
(Pan troglodytes)
Mammalia SMPD2 35
  • 99.37 (n)
  • 99.05 (a)
SMPD2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smpd2 35
  • 83.18 (n)
  • 79.15 (a)
oppossum
(Monodelphis domestica)
Mammalia SMPD2 36
  • 55 (a)
OneToOne
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)
smpd2a 36
  • 41 (a)
OneToMany
SMPD2 (2 of 2) 36
  • 40 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG12034 37
  • 34 (a)
CG12034 35
  • 48.27 (n)
  • 36.92 (a)
CG12034 36
  • 27 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008053 35
  • 51.21 (n)
  • 41.67 (a)
worm
(Caenorhabditis elegans)
Secernentea T27F6.6 37
  • 41 (a)
T27F6.6 35
  • 49.83 (n)
  • 42.51 (a)
T27F6.6 36
  • 32 (a)
OneToOne
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
rs1476387 - 109,443,332(+) CACAG(A/G/T)GGCAC nc-transcript-variant, reference, missense
VAR_050305 -
VAR_050306 -
rs1476386 -- 109,443,201(+) GTAGC(C/T)GGGAG intron-variant
rs146318470 -- 109,443,552(+) TGCTA(A/C)AGGAG nc-transcript-variant, reference, missense

Variation tolerance for SMPD2 Gene

Residual Variation Intolerance Score: 16.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.04; 80.22% of all genes are more intolerant (likely to be disease-causing)

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

(1) MalaCards diseases for SMPD2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
lipid storage disease
  • inborn lipid storage disorder
- elite association - COSMIC cancer census association via MalaCards
Search SMPD2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SMPD2

Genetic Association Database (GAD)
SMPD2
Human Genome Epidemiology (HuGE) Navigator
SMPD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMPD2
genes like me logo Genes that share disorders with SMPD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 67
  2. Transcriptional regulation of neutral sphingomyelinase 2 gene expression of a human breast cancer cell line, MCF-7, induced by the anti-cancer drug, daunorubicin. (PMID: 19698806) Ito H. … Murate T. (Biochim. Biophys. Acta 2009) 3 23
  3. Aggregated low density lipoprotein induces tissue factor by inhibiting sphingomyelinase activity in human vascular smooth muscle cells. (PMID: 19817993) Camino-LA^pez S. … Llorente-CortAcs V. (J. Thromb. Haemost. 2009) 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. Regulation of sphingomyelinases in cells of the oligodendrocyte lineage. (PMID: 14689449) Testai F.D. … Dawson G. (J. Neurosci. Res. 2004) 3 23

Products for SMPD2 Gene

Sources for SMPD2 Gene

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