Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



SMPD3 Gene

protein-coding   GIFtS: 60
GCID: GC16M068392

Sphingomyelin Phosphodiesterase 3, Neutral Membrane (Neutral...

  See SMPD3-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Sphingomyelin Phosphodiesterase 3, Neutral Membrane (Neutral
Sphingomyelinase II)1 2
     NSMASE22
Neutral Sphingomyelinase 22 3     Sphingomyelin Phosphodiesterase 32
Neutral Sphingomyelinase II2 3     EC 3.1.4.123
nSMase-22 3     nSMase23

External Ids:    HGNC: 142401   Entrez Gene: 555122   Ensembl: ENSG000001030567   OMIM: 6057775   UniProtKB: Q9NY593   

Export aliases for SMPD3 gene to outside databases

Previous GC identifers: GC16M059090 GC16M068772 GC16M068130 GC16M068171 GC16M066949 GC16M054265


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

GeneCards Summary for SMPD3 Gene:
SMPD3 (sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)) is a protein-coding gene. Diseases associated with SMPD3 include dentinogenesis imperfecta. GO annotations related to this gene include sphingomyelin phosphodiesterase activity.

UniProtKB/Swiss-Prot: NSMA2_HUMAN, Q9NY59
Function: Catalyzes the hydrolysis of sphingomyelin to form ceramide and phosphocholine. Ceramide mediates
numerous cellular functions, such as apoptosis and growth arrest, and is capable of regulating these 2 cellular
events independently. Also hydrolyzes sphingosylphosphocholine. Regulates the cell cycle by acting as a growth
suppressor in confluent cells. Probably acts as a regulator of postnatal development and participates in bone and
dentin mineralization

Gene Wiki entry for SMPD3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000016.10  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SMPD3 gene promoter:
         HFH-3   AP-1   ATF-2   Tal-1beta   E47   Egr-2   FOXI1   POU2F1b   HFH-1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMPD3 promoter sequence
   Search Chromatin IP Primers for SMPD3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SMPD3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q22.1   Ensembl cytogenetic band:  16q22.1   HGNC cytogenetic band: 16q22.1

SMPD3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMPD3 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M068392:  view genomic region     (about GC identifiers)

Start:
68,392,230 bp from pter      End:
68,482,591 bp from pter
Size:
90,362 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: NSMA2_HUMAN, Q9NY59 (See protein sequence)
Recommended Name: Sphingomyelin phosphodiesterase 3  
Size: 655 amino acids; 71081 Da
Cofactor: Magnesium
Developmental stage: Up-regulated during G0/G1 phases
Secondary accessions: Q2M1S8

Explore the universe of human proteins at neXtProt for SMPD3: NX_Q9NY59

Explore proteomics data for SMPD3 at MOPED

Post-translational modifications: 

  • Palmitoylated, palmitoylation-deficient proteins are targeted for lysosomal degradation (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SMPD3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_061137.1  
    ENSEMBL proteins: 
     ENSP00000219334   ENSP00000459317   ENSP00000457422   ENSP00000455955   ENSP00000457236  
    Reactome Protein details: Q9NY59

    SMPD3 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for SMPD3
    OriGene Protein Over-expression Lysate for SMPD3
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SMPD3
    GenScript Custom Purified and Recombinant Proteins Services for SMPD3
    Novus Biologicals SMPD3 Proteins
    Novus Biologicals SMPD3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SMPD3

     
    Search eBioscience for Proteins for SMPD3 

    SMPD3 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for SMPD3
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for SMPD3
    Novus Biologicals SMPD3 Antibodies
    Abcam antibodies for SMPD3
    Cloud-Clone Corp. Antibodies for SMPD3
    ThermoFisher Antibodies for SMPD3
    LSBio Antibodies in human, mouse, rat for SMPD3

    SMPD3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SMPD3
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SMPD3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SMPD3
    Cloud-Clone Corp. CLIAs for SMPD3
    Search eBioscience for ELISAs for SMPD3 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    1 InterPro protein domain:
     IPR005135 Endo/exonuclease/phosphatase

    Graphical View of Domain Structure for InterPro Entry Q9NY59

    ProtoNet protein and cluster: Q9NY59

    UniProtKB/Swiss-Prot: NSMA2_HUMAN, Q9NY59
    Similarity: Belongs to the neutral sphingomyelinase family


    Find genes that share domains with SMPD3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NSMA2_HUMAN, Q9NY59
    Function: Catalyzes the hydrolysis of sphingomyelin to form ceramide and phosphocholine. Ceramide mediates
    numerous cellular functions, such as apoptosis and growth arrest, and is capable of regulating these 2 cellular
    events independently. Also hydrolyzes sphingosylphosphocholine. Regulates the cell cycle by acting as a growth
    suppressor in confluent cells. Probably acts as a regulator of postnatal development and participates in bone and
    dentin mineralization
    Catalytic activity: Sphingomyelin + H(2)O = N-acylsphingosine + phosphocholine
    Enzyme regulation: Activated by unsaturated fatty acids and phosphatidylserine
    Biophysicochemical properties: pH dependence: Optimum pH is 7.5;

         Enzyme Number (IUBMB): EC 3.1.4.121

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004767sphingomyelin phosphodiesterase activity IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with SMPD3           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SMPD3:
     Decreased DCP1a protein expres 

         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Smpd3):
     craniofacial  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  limbs/digits/tail 
     mortality/aging  nervous system  reproductive system  respiratory system  skeleton 

    Find genes that share phenotypes with SMPD3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Smpd3tm1Wst for SMPD3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SMPD3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SMPD3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SMPD3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SMPD3

    miRNA
    Products:
        
    miRTarBase miRNAs that target SMPD3:
    hsa-mir-26b-5p (MIRT028920)

    Block miRNA regulation of human, mouse, rat SMPD3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SMPD3 (see all 75):
    hsa-miR-361-5p hsa-miR-607 hsa-miR-128 hsa-miR-219-5p hsa-miR-3161 hsa-miR-29a* hsa-miR-3148 hsa-miR-4324
    SwitchGear 3'UTR luciferase reporter plasmidSMPD3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SMPD3
    Predesigned siRNA for gene silencing in human, mouse, rat SMPD3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SMPD3

    Clone
    Products:
         
    OriGene clones in human, mouse for SMPD3 (see all 6)
    OriGene ORF clones in mouse, rat for SMPD3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SMPD3 (NM_018667)
    Sino Biological Human cDNA Clone for SMPD3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMPD3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMPD3

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SMPD3
    Browse ESI BIO Cell Lines and PureStem Progenitors for SMPD3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMPD3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    NSMA2_HUMAN, Q9NY59: Golgi apparatus membrane; Lipid-anchor. Cell membrane; Lipid-anchor. Note=May localize to
    detergent-resistant subdomains of Golgi membranes of hypothalamic neurosecretory neurons. According to
    PubMed:15051724, it localizes to plasma membrane in confluent contact-inhibited cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    plasma membrane5
    extracellular2
    cytosol1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000137Golgi cis cisterna IEA--
    GO:0000139Golgi membrane IEA--
    GO:0005794Golgi apparatus ----
    GO:0005886plasma membrane TAS--

    Find genes that share ontologies with SMPD3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for SMPD3 About   (see all 12)  
    See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Glycosphingolipid metabolism0.56
    Sphingolipid metabolism0.61
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Ceramide Pathway
    Ceramide Pathway0.32
    TNF-Induced Apoptosis Implicating Sphingolipids0.32
    4NGF Pathway
    NGF Pathway0.75
    5ErbB4 Pathway
    UVC-Induced MAPK Signaling0.44


    Find genes that share SuperPaths with SMPD3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SMPD3 (see all 9)
        Caspase Cascade
    S-1P Stimulated Signaling
    TNF-Induced Apoptosis Implicating Sphingolipids
    LDL Oxidation in Atherogenesis
    Fas Signaling

    2 BioSystems Pathways for SMPD3
        sphingomyelin metabolism/ceramide salvage
    Ceramide signaling pathway


    1 Reactome Pathway for SMPD3
        Glycosphingolipid metabolism


    2 Kegg Pathways  (Kegg details for SMPD3):
        Sphingolipid metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: NSMA2_HUMAN, Q9NY59
    Pathway: Lipid metabolism; sphingolipid metabolism

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SMPD3
    Interactions:

        Search GeneGlobe Interaction Network for SMPD3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SMPD3 (Q9NY593 ENSP000002193344) via UniProtKB, MINT, STRING, and/or I2D (see all 38)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    COPS6Q7L5N13I2D: score=1 
    CRMP1Q141943I2D: score=1 
    GDF9O603833I2D: score=1 
    MED31Q9Y3C73I2D: score=1 
    PLEKHM1Q9Y4G23I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006684sphingomyelin metabolic process ----
    GO:0006685sphingomyelin catabolic process TAS10823942
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0007049cell cycle IEA--

    Find genes that share ontologies with SMPD3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SMPD3 (NSMA2)

    Selected HMDB Compounds for SMPD3 (see all 277)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-O-Sulfogalactosylceramide (d18:1/12:0)Sulfatide (d18:1/12:0) (see all 13)852100-88-0--
    3-O-Sulfogalactosylceramide (d18:1/14:0)Sulfatide (d18:1/14:0) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/16:0)Sulfatide (d18:1/16:0) (see all 13)862509-48-6--
    3-O-Sulfogalactosylceramide (d18:1/18:0)Sulfatide (d18:1/18:0) (see all 13)244215-65-4--
    3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))Sulfatide (d18:1/18:1(9Z)) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/20:0)Sulfatide (d18:1/20:0) (see all 13)265096-81-9--
    3-O-Sulfogalactosylceramide (d18:1/22:0)Sulfatide (d18:1/22:0) (see all 13)265096-83-1--
    3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-3--
    3-O-Sulfogalactosylceramide (d18:1/24:1(15Z))Sulfatide (d18:1/24:1(15Z)) (see all 13)151057-28-2--
    3-O-Sulfogalactosylceramide (d18:1/26:1(17Z))Sulfatide (d18:1/26:1(17Z)) (see all 13)928346-40-1--

    1 DrugBank Compound for SMPD3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Phosphatidylserine3-O-sn-Phosphatidyl-L-serine (see all 3)8002-43-5target--12566438 16517606

    6 Novoseek inferred chemical compound relationships for SMPD3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ceramide 86.1 23 19395669 (4), 15929065 (2), 15051724 (2), 20096352 (2) (see all 10)
    ceramides 80.8 1 15051724 (1)
    lipid 13.8 1 15929065 (1)
    cholesterol 0 2 15929065 (1)
    oxygen 0 2 17498692 (1)
    nitric oxide 0 1 16269668 (1)



    Find genes that share compounds with SMPD3           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for SMPD3 gene: 
    NM_018667.3  

    Unigene Cluster for SMPD3:

    Sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
    Hs.368421  [show with all ESTs]
    Unigene Representative Sequence: NM_018667
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000219334(uc010cfe.3 uc010vlh.2 uc002ewa.3) ENST00000574662
    ENST00000568373 ENST00000563226 ENST00000563396 ENST00000567223 ENST00000566009
    ENST00000567811 ENST00000563455 ENST00000566466 ENST00000566723 ENST00000561749

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SMPD3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SMPD3 (see all 75):
    hsa-miR-361-5p hsa-miR-607 hsa-miR-128 hsa-miR-219-5p hsa-miR-3161 hsa-miR-29a* hsa-miR-3148 hsa-miR-4324
    SwitchGear 3'UTR luciferase reporter plasmidSMPD3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SMPD3
    Predesigned siRNA for gene silencing in human, mouse, rat SMPD3
    Clone
    Products:
         
    OriGene clones in human, mouse for SMPD3 (see all 6)
    OriGene ORF clones in mouse, rat for SMPD3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SMPD3 (NM_018667)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMPD3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMPD3
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SMPD3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SMPD3
      QuantiTect SYBR Green Assays in human, mouse, rat SMPD3
      QuantiFast Probe-based Assays in human, mouse, rat SMPD3

    Additional mRNA sequence: 

    AJ250460.1 AK026246.1 AK128261.1 AK289651.1 BC012727.2 BC041828.1 BC112238.1 BC143631.1 
    BC143634.1 DQ424899.1 

    6 DOTS entries:

    DT.91788226  DT.100767306  DT.208696  DT.40219130  DT.95244539  DT.120723995 

    Selected AceView cDNA sequences (see all 50):

    CA424980 BE465075 CA447071 AI866803 AJ250460 AI457842 NM_018667 AK026246 
    Z39514 AL157661 AW104371 BI196095 BX107868 BP367079 AL157660 BU147360 
    BQ187433 AI979147 CB268111 AW157309 BC041828 BX436963 T17090 AA460963 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SMPD3 (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12
    SP1:                                      -                 -     -           -                 -         
    SP2:                                      -                 -     -           -                           
    SP3:                                      -                                                               
    SP4:                                      -                 -     -                                       
    SP5:                                      -                                                               


    ECgene alternative splicing isoforms for SMPD3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    SMPD3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGACATTAGG
    SMPD3 Expression
    About this image


    SMPD3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 8 entries
             Chondrocytes Zeugopod Epiphyseal End
             Zeugopod Long Bone
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Blood (Cardiovascular System)    fully expand to see all 3 entries
             Granulocytes Peripheral Blood
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             Mesenchymal Condensate Cells Zeugopod
             Pelvic Girdle
    SMPD3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SMPD3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.368421

    UniProtKB/Swiss-Prot: NSMA2_HUMAN, Q9NY59
    Tissue specificity: Predominantly expressed in brain

        Custom PCR Arrays for SMPD3
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for SMPD3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SMPD3
    QuantiTect SYBR Green Assays in human, mouse, rat SMPD3
    QuantiFast Probe-based Assays in human, mouse, rat SMPD3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMPD3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for SMPD3 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smpd31 , 5 sphingomyelin phosphodiesterase 3, neutral1, 5 86.93(n)1
    91.58(a)1
      8 (53.12 cM)5
    589941  NM_021491.31  NP_067466.11 
     1062525485 
    chicken
    (Gallus gallus)
    Aves SMPD31 sphingomyelin phosphodiesterase 3, neutral membrane more 69.89(n)
    73.89(a)
      415619  XM_429344.4  XP_429344.2 
    lizard
    (Anolis carolinensis)
    Reptilia SMPD36
    sphingomyelin phosphodiesterase 3, neutral membran...
    71(a)
    1 ↔ 1
    LGc(6589998-6738205)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia smpd31 sphingomyelin phosphodiesterase 3, neutral membrane more 67.69(n)
    70.77(a)
      100495702  XM_002939876.2  XP_002939922.1 
    zebrafish
    (Danio rerio)
    Actinopterygii smpd31 sphingomyelin phosphodiesterase 3, neutral 62.37(n)
    61.01(a)
      568381  NM_001122750.1  NP_001116222.1 


    ENSEMBL Gene Tree for SMPD3 (if available)
    TreeFam Gene Tree for SMPD3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for SMPD3 gene

    Find genes that share paralogs with SMPD3           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for SMPD3
    PGOHUM00000249813


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for SMPD3 (see all 1679)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs567306201,2
    C--54327086(+) TTTTT-/T/TT  
            
    AAGAG
    1 -- int11NA 2
    rs759127651,2
    C--68391759(+) AAGGCA/GGCTGT 1 -- ds50010--------
    rs1486753051,2
    --68391763(+) CAGCTA/GTCCCA 1 -- ds50010--------
    rs1410928241,2
    --68391806(+) GGCTG-/TCAGGGGA 1 -- ds50010--------
    rs1890105031,2
    --68391843(+) CACCTC/TCCTCA 1 -- ds50010--------
    rs1421652711,2
    C--68391915(+) TCACCA/GGGAAG 1 -- ds50010--------
    rs1143135361,2
    C,F--68392056(+) GGCTTG/TTGCCA 1 -- ds50011Minor allele frequency- T:0.25WA 118
    rs1466962621,2
    C--68392197(+) CCCCAA/GCTTGT 1 -- ds50010--------
    rs740246291,2
    C--68392439(+) TGAAGA/GTACAA 1 -- ut312Minor allele frequency- G:0.04WA 120
    rs72036601,2
    C,F,A,H--68392482(+) TTATAA/CCAGTA 1 -- ut3112Minor allele frequency- C:0.20NS EA NA CSA WA 1492

    HapMap Linkage Disequilibrium report for SMPD3 (68392230 - 68482591 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SMPD3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2714652CNV Deletion23290073
    nsv1848CNV Insertion18451855
    nsv1847CNV Insertion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SMPD3
    DNA2.0 Custom Variant and Variant Library Synthesis for SMPD3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 605777    OMIM disorders: --

    1 disease for SMPD3:    
    About MalaCards
    dentinogenesis imperfecta


    Find genes that share disorders with SMPD3           About GenesLikeMe

    4 Novoseek inferred disease relationships for SMPD3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    panhypopituitarism 62.8 1 17591962 (1)
    dwarfism 54.7 1 17591962 (1)
    necrosis 16.5 10 17085432 (2), 18653803 (1), 19476542 (1), 16269668 (1)
    tumors 0 11 18653803 (2), 17085432 (2), 19476542 (1), 16269668 (1)

    Genetic Association Database (GAD): SMPD3
    Human Genome Epidemiology (HuGE) Navigator: SMPD3 (3 documents)

    Export disorders for SMPD3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for SMPD3 gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with SMPD3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of the mammalian brain-specific, Mg2+- dependent neutral sphingomyelinase. (PubMed id 10823942)1, 2, 3 Hofmann K.... Stoffel W. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    2. Role for mammalian neutral sphingomyelinase 2 in confluence-induced growth arrest of MCF7 cells. (PubMed id 15051724)1, 2, 9 Marchesini N....Hannun Y.A. (J. Biol. Chem. 2004)
    3. Analysis of membrane topology of neutral sphingomyelinase 2. (PubMed id 17349629)1, 2, 9 Tani M. and Hannun Y.A. (FEBS Lett. 2007)
    4. Novel tumor necrosis factor-responsive mammalian neutral sphingomyelinase-3 is a C-tail-anchored protein. (PubMed id 16517606)1, 7, 9 Krut O.... Kroenke M. (J. Biol. Chem. 2006)
    5. Hydrolysis of sphingosylphosphocholine by neutral sphingomyelinases. (PubMed id 14741383)1, 2, 9 Miura Y.... Hanada K. (FEBS Lett. 2004)
    6. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Biochemical properties of mammalian neutral sphingomyelinase 2 and its role in sphingolipid metabolism. (PubMed id 12566438)1, 7 Marchesini N....Hannun Y.A. (J. Biol. Chem. 2003)
    9. Neutral sphingomyelinase 2 (nSMase2) is a phosphoprotein regulated by calcineurin (PP2B). (PubMed id 20106976)1, 9 Filosto S....Goldkorn T. (J. Biol. Chem. 2010)
    10. Role for neutral sphingomyelinase-2 in tumor necrosis factor alpha-stimulated expression of vascular cell adhesion molecule-1 (VCAM) and intercellular adhesion molecule-1 (ICAM) in lung epithelial cells: p38 MAPK is an upstream regulator of nSMase2. (PubMed id 17085432)1, 9 Clarke C.J....Hannun Y.A. (J. Biol. Chem. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 55512 HGNC: 14240 AceView: SMPD3 Ensembl:ENSG00000103056 euGenes: HUgn55512
    ECgene: SMPD3 Kegg: 55512 H-InvDB: SMPD3

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for SMPD3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for SMPD3 gene:
    Search GeneIP for patents involving SMPD3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Antibodies for SMPD3 (SMPD3)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for SMPD3  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for SMPD3  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for SMPD3  
     OriGene qSTAR qPCR primer pairs in human, mouse for SMPD3   OriGene Purified Protein for SMPD3  
     OriGene ORF clones in mouse, rat for SMPD3   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SMPD3   OriGene Custom Protein Services for SMPD3  

     
     
     Block miRNA regulation of human, mouse, rat SMPD3 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing SMPD3
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SMPD3 Predesigned siRNA for gene silencing in human, mouse, rat SMPD3
     QuantiFast Probe-based Assays in human, mouse, rat SMPD3 QuantiTect SYBR Green Assays in human, mouse, rat SMPD3
     Custom PCR Arrays for SMPD3 Search Chromatin IP Primers for SMPD3
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SMPD3  Search GeneGlobe Interaction Network for SMPD3
     Regulatory tfbs in SMPD3 promoter
     GenScript Custom Purified and Recombinant Proteins Services for SMPD3 GenScript cDNA clones with any tag delivered in your preferred vector for SMPD3
     GenScript Custom Assay Services for SMPD3 GenScript Custom overexpressing Cell Line Services for SMPD3
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for SMPD3 (NSMA2)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for SMPD3
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     SMPD3 antibodies
     SMPD3 proteins
     SMPD3 lysates
     Antibodies for SMPD3
     See all of Abcam's Antibodies, Kits and Proteins for SMPD3
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for SMPD3
     Antibodies for SMPD3
     ELISAs for SMPD3
     CLIAs for SMPD3



     Browse ESI BIO Cell Lines and PureStem Progenitors for SMPD3
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMPD3
     SwitchGear 3'UTR luciferase reporter plasmids for SMPD3
     SwitchGear Promoter luciferase reporter plasmids for SMPD3
     ThermoFisher Antibodies for SMPD3
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMPD3
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SMPD3
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SMPD3
     LSBio Antibodies in human, mouse, rat for SMPD3
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for SMPD3
      Search eBioscience for proteins for SMPD3
      Search eBioscience for elisas for SMPD3
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      SMPD3 gene at Home site.
    Version: 3.12.202 14 Sep 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4