Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SMPD4 Gene

protein-coding   GIFtS: 53
GCID: GC02M130908

Sphingomyelin Phosphodiesterase 4, Neutral Membrane (Neutral...

  See related diseases
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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Sphingomyelin Phosphodiesterase 4, Neutral Membrane (Neutral
Sphingomyelinase-3)1 2
     SKNY Protein2
Neutral Sphingomyelinase 32 3     Sphingomyelin Phosphodiesterase 42
Neutral Sphingomyelinase III2 3     EC 3.1.4.123
NET132     KIAA14183
NSMASE-32     nSMase-33
NSMASE32     nSMase33

External Ids:    HGNC: 329491   Entrez Gene: 556272   Ensembl: ENSG000001366997   OMIM: 6104575   UniProtKB: Q9NXE43   
ORGUL members:         
NONCODE14:n409101      

Export aliases for SMPD4 gene to outside databases

Previous GC identifers: GC02M130626 GC02M123204


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

Entrez Gene summary for SMPD4 Gene:
Sphingomyelinases (EC 3.1.4.12), such as SMPD4, catalyze the hydrolysis of membrane sphingomyelin to form
phosphorylcholine and ceramide (Krut et al., 2006 (PubMed 16517606)).(supplied by OMIM, Mar 2008)

GeneCards Summary for SMPD4 Gene: 
SMPD4 (sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with SMPD4 include breast cancer, and neuronitis, and among its related super-pathways are Sphingolipid metabolism and Metabolic pathways. GO annotations related to this gene include sphingomyelin phosphodiesterase D activity and sphingomyelin phosphodiesterase activity.

UniProtKB/Swiss-Prot: NSMA3_HUMAN, Q9NXE4
Function: Catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide

Gene Wiki entry for SMPD4 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022135.16  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SMPD4 gene promoter:
         HFH-3   Sox5   Sp1   CUTL1   XBP-1   Arnt   E47   FOXI1   RORalpha1   AREB6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMPD4 promoter sequence
   Search SABiosciences Chromatin IP Primers for SMPD4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMPD4


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

Entrez Gene cytogenetic band: 2q21.1   Ensembl cytogenetic band:  2q21.1   HGNC cytogenetic band: 2q21.1

SMPD4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMPD4 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M130908:  view genomic region     (about GC identifiers)

Start:
130,908,965 bp from pter      End:
130,940,323 bp from pter
Size:
31,359 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NSMA3_HUMAN, Q9NXE4 (See protein sequence)
Recommended Name: Sphingomyelin phosphodiesterase 4  
Size: 827 amino acids; 93352 Da
Cofactor: Magnesium
Subcellular location: Endoplasmic reticulum membrane; Single-pass membrane protein. Golgi apparatus membrane;
Single-pass membrane protein
Sequence caution: Sequence=BAA91368.1; Type=Erroneous initiation; Sequence=BAA91567.1; Type=Erroneous initiation;
Sequence=BAA92656.1; Type=Erroneous initiation;
Secondary accessions: B4DRB8 E7ESA2 Q6FI76 Q6P1P7 Q6ZT43 Q9H0M2 Q9NW20 Q9NWL2 Q9P2C9
Alternative splicing: 6 isoforms:  Q9NXE4-1   Q9NXE4-2   Q9NXE4-3   Q9NXE4-4   Q9NXE4-5   Q9NXE4-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SMPD4: NX_Q9NXE4

Explore proteomics data for SMPD4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NXE4

  • SMPD4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SMPD4 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001164554.1  NP_060221.2  NP_060421.2  

    ENSEMBL proteins: 
     ENSP00000407591   ENSP00000403002   ENSP00000397278   ENSP00000259217   ENSP00000401648  
     ENSP00000386531   ENSP00000397078   ENSP00000403915   ENSP00000406325   ENSP00000405363  
     ENSP00000393791   ENSP00000416208   ENSP00000406458   ENSP00000405187   ENSP00000394313  
     ENSP00000339721   ENSP00000387762   ENSP00000397479   ENSP00000391896  
    Reactome Protein details: Q9NXE4
    Human Recombinant Protein Products for SMPD4: 
    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
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for SMPD4
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for SMPD4
    GenScript Custom Purified and Recombinant Proteins Services for SMPD4
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SMPD4 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005783endoplasmic reticulum IDA16517606
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005794Golgi apparatus IDA16517606
    GO:0005802trans-Golgi network IDA16517606

    SMPD4 for ontologies           About GeneDecksing



    SMPD4 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for SMPD4
    GenScript Custom Superior Antibodies Services for SMPD4
    Abcam antibodies for SMPD4
    Cloud-Clone Corp. Antibodies for SMPD4 
    ThermoFisher Antibodies for SMPD4
    LSBio Antibodies in human, mouse, rat for SMPD4 

    Assay Products for SMPD4: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SMPD4
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SMPD4
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SMPD4 
    Cloud-Clone Corp. CLIAs for SMPD4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR024129 Sphingomy_SMPD4

    Graphical View of Domain Structure for InterPro Entry Q9NXE4

    ProtoNet protein and cluster: Q9NXE4


    SMPD4 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NSMA3_HUMAN, Q9NXE4
    Function: Catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide
    Catalytic activity: Sphingomyelin + H(2)O = N-acylsphingosine + phosphocholine
    Enzyme regulation: Activated by phosphatidylserine and tumor necrosis factor (TNF). Inhibited by scyphostatin
    Biophysicochemical properties: pH dependence: Optimum pH is 7.0;

         Enzyme Number (IUBMB): EC 3.1.4.121

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004767sphingomyelin phosphodiesterase activity TAS--
    GO:0046872metal ion binding IEA--
    GO:0050290sphingomyelin phosphodiesterase D activity IDA16517606
         
    SMPD4 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SMPD4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SMPD4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SMPD4 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SMPD4 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SMPD4
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate SMPD4:
    hsa-miR-9 hsa-miR-133a hsa-miR-133b
    SwitchGear 3'UTR luciferase reporter plasmidSMPD4 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SMPD4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SMPD4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SMPD4
    Sirion Biotech Customized adenovirus for overexpression of SMPD4

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for SMPD4 (see all 21)
    OriGene ORF clones in mouse, rat for SMPD4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SMPD4 (NM_017751)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMPD4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMPD4
    Sirion Biotech Customized lentivirus for stable overexpression of SMPD4 
                         Customized lentivirus expression plasmids for stable overexpression of SMPD4 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SMPD4
    Search LifeMap BioReagents cell lines for SMPD4
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMPD4


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SMPD4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.63
    Glycosphingolipid metabolism0.55
    Sphingolipid metabolism0.63
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    3sphingomyelin metabolism/ceramide salvage
    sphingomyelin metabolism/ceramide salvage

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SMPD4
        sphingomyelin metabolism/ceramide salvage

    4        Reactome Pathways for SMPD4
        Sphingolipid metabolism
    Glycosphingolipid metabolism
    Metabolism
    Metabolism of lipids and lipoproteins


    2         Kegg Pathways  (Kegg details for SMPD4):
        Sphingolipid metabolism
    Metabolic pathways


    SMPD4 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SMPD4

    2 Interacting proteins for SMPD4 (Q9NXE43) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BRF2Q9HAW03I2D: score=2 
    EXOSC4Q9NPD33I2D: score=2 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006685sphingomyelin catabolic process IDA16517606
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0046475glycerophospholipid catabolic process IDA16517606

    SMPD4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SMPD4 (NSMA3)

    10/277 HMDB Compounds for SMPD4 (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 SMPD4    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Phosphatidylserine3-O-sn-Phosphatidyl-L-serine (see all 3)8002-43-5target--16517606

    Search CenterWatch for drugs/clinical trials and news about SMPD4 / NSMA3

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SMPD4 gene (4 alternative transcripts): 
    NM_001171084.1  NM_001171083.2  NM_017751.4  NM_017951.4  

    Unigene Cluster for SMPD4:

    Sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)
    Hs.516450  [show with all ESTs]
    Unigene Representative Sequence: NR_033230
    18/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000454468 ENST00000412570 ENST00000433118 ENST00000351288 ENST00000491128
    ENST00000482171(uc002tqo.2) ENST00000439886(uc002tqp.2) ENST00000409031(uc002tqq.2 uc002tqs.2 uc002tqr.2 uc010zaa.2 uc002tqt.2 uc010zac.2)
    ENST00000457039 ENST00000491319 ENST00000449159 ENST00000461187 ENST00000430682
    ENST00000451542 ENST00000435455 ENST00000473720 ENST00000455548 ENST00000439029

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SMPD4
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate SMPD4:
    hsa-miR-9 hsa-miR-133a hsa-miR-133b
    SwitchGear 3'UTR luciferase reporter plasmidSMPD4 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SMPD4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SMPD4
    Clone
    Products:
         
    OriGene clones in human, mouse for SMPD4 (see all 21)
    OriGene ORF clones in mouse, rat for SMPD4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SMPD4 (NM_017751)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMPD4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMPD4
    Sirion Biotech Customized lentivirus for stable overexpression of SMPD4 
                         Customized lentivirus expression plasmids for stable overexpression of SMPD4 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SMPD4
    OriGene qSTAR qPCR primer pairs in human, mouse for SMPD4
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SMPD4
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SMPD4
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SMPD4

    Additional mRNA sequence: 

    AB037839.1 AF052134.1 AK000304.1 AK000763.1 AK001227.1 AK056501.1 AK297257.1 AK298609.1 
    AK299185.1 AK301576.1 AK303427.1 AK303519.1 AL136737.1 BC040941.1 BC064947.1 CR533550.1 
    EU367941.1 NR_033230.2 NR_033231.2 NR_033232.2 

    24/48 DOTS entries (see all 48):

    DT.95197752  DT.95357791  DT.100812250  DT.100687923  DT.75116930  DT.100770995  DT.91906072  DT.95357895 
    DT.100828532  DT.100828524  DT.95288728  DT.95175789  DT.100040544  DT.100705237  DT.100828541  DT.120981062 
    DT.100828526  DT.100639700  DT.100828531  DT.100828540  DT.120981411  DT.100696219  DT.120981393  DT.120981453 

    24/441 AceView cDNA sequences (see all 441):

    BU184878 AI991695 BE908461 BI011117 BQ944977 BQ688894 W70103 BG340864 
    BG743854 BE893678 AW470904 AW938847 CF126053 BU147227 BU183651 BQ061738 
    BX376081 BU839704 AI951934 AU124452 BM981831 AA298608 BC040941 BQ644248 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SMPD4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCTTGCTTC
    SMPD4 Expression
    About this image


    See SMPD4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMPD4

    SOURCE GeneReport for Unigene cluster: Hs.516450

    UniProtKB/Swiss-Prot: NSMA3_HUMAN, Q9NXE4
    Tissue specificity: Widely expressed, with highest levels in heart and skeletal muscle

        SABiosciences Custom PCR Arrays for SMPD4
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SMPD4
    OriGene qSTAR qPCR primer pairs in human, mouse for SMPD4
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SMPD4
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SMPD4
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SMPD4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMPD4

    (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

    This gene was present in the common ancestor of animals.

    Orthologs for SMPD4 gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smpd41 , 5 sphingomyelin phosphodiesterase 41, 5 85.37(n)1
    90.16(a)1
      16 (10.92 cM)5
    776261  NM_001164610.11  NP_001158082.11 
     176193545 
    chicken
    (Gallus gallus)
    Aves SMPD41 sphingomyelin phosphodiesterase 4, neutral membrane more 70.63(n)
    75.15(a)
      416942  XM_415236.3  XP_415236.2 
    lizard
    (Anolis carolinensis)
    Reptilia SMPD46
    sphingomyelin phosphodiesterase 4, neutral membran...
    60(a)
    1 ↔ 1
    GL343947.1(105099-115742)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.47132 Xenopus laevis, Similar to hypothetical protein FLJ2 more 74.41(n)    BC044113.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb22d052 Danio rerio cDNA clone MGC66367 IMAGE5611820, complete more 75.36(n)    BC057525.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG69621 CG6962 42.72(n)
    28.85(a)
      41436  NM_141867.3  NP_650124.1 


    ENSEMBL Gene Tree for SMPD4 (if available)
    TreeFam Gene Tree for SMPD4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SMPD4 gene

    SMPD4 for paralogs           About GeneDecksing


    5/6 Pseudogenes.org Pseudogenes for SMPD4 (see all 6)
    PGOHUM00000248303 PGOHUM00000248304 PGOHUM00000246243 PGOHUM00000246244 PGOHUM00000250475


    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/778 SNPs in SMPD4 are shown (see all 778)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs24074641,2
    --130908465(+) CAGCCA/CCCAAG 6 -- ds50010--------
    rs24074651,2
    --130908511(+) TCTCAA/GTGCAT 6 -- ds50010--------
    rs24074661,2
    --130908515(+) AATGCA/GTTTTT 6 -- ds50010--------
    rs24074671,2
    --130908522(+) TTTTGC/TCTGCC 6 -- ds50010--------
    rs23138361,2
    --130908529(-) AGCGGA/GGGGCA 6 -- ds50011Minor allele frequency- G:0.00NA 2
    rs28976701,2
    C,H--130908576(+) ATCCTC/TAGAGC 6 -- ds50014Minor allele frequency- T:0.00NS EA 416
    rs1131288721,2
    F--130908617(+) TTCCCG/AGTGGT 6 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs39586931,2
    --130908720(+) cctgaC/Tgatcc 6 -- ds50010--------
    rs797918331,2
    C--130908721(-) AGGATT/CATCAG 6 -- ds50011Minor allele frequency- C:0.00NA 2
    rs38563751,2
    C,H--130908770(+) GAACCA/GCCATG 6 -- ds50015Minor allele frequency- G:0.00NA CSA 11

    HapMap Linkage Disequilibrium report for SMPD4 (130908965 - 130940323 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/21 variations for SMPD4 (see all 21):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv834375CNV Loss17160897
    nsv459274CNV Loss19166990
    nsv428403CNV Loss18775914
    nsv821629CNV Loss15273396
    dgv4306n71CNV Gain21882294
    nsv875061CNV Gain21882294
    nsv482053CNV Gain20164927
    nsv875087CNV Gain21882294
    dgv4308n71CNV Gain21882294
    dgv4305n71CNV Gain21882294

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SMPD4
    DNA2.0 Custom Variant and Variant Library Synthesis for SMPD4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610457    OMIM disorders: --

    2 diseases for SMPD4:    About MalaCards
    breast cancer    neuronitis


    SMPD4 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SMPD4
    Human Genome Epidemiology (HuGE) Navigator: SMPD4 (3 documents)

    Export disorders for SMPD4 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

    PubMed articles for SMPD4 gene, integrated from 9 sources (see all 30):
    (articles sorted by number of sources associating them with SMPD4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel tumor necrosis factor-responsive mammalian neutral sphingomyelinase-3 is a C-tail-anchored protein. (PubMed id 16517606)1, 2, 3, 7 Krut O.... Kroenke M. (2006)
    2. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    4. 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. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    7. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2 Nagase T.... Ohara O. (2000)
    8. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    9. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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
    Entrez Gene: 55627 HGNC: 32949 AceView: FLJ20297 Ensembl:ENSG00000136699 euGenes: HUgn55627
    ECgene: SMPD4 Kegg: 55627 H-InvDB: SMPD4

    (According to HUGE)
    About This Section
    HUGE: KIAA1418

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SMPD4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SMPD4 gene:
    Search GeneIP for patents involving SMPD4

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot 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 Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for SMPD4  
     OriGene qPCR primer pairs and template standards for SMPD4   OriGene Protein Over-expression Lysate for SMPD4  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for SMPD4  
     OriGene qSTAR qPCR primer pairs in human, mouse for SMPD4   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for SMPD4   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SMPD4   OriGene Custom Protein Services for SMPD4  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SMPD4
     QIAGEN SeqTarget long-range PCR primers for resequencing SMPD4
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMPD4
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SMPD4
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SMPD4
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SMPD4
     GenScript Custom Purified and Recombinant Proteins Services for SMPD4 GenScript cDNA clones with any tag delivered in your preferred vector for SMPD4
     GenScript Custom Assay Services for SMPD4 GenScript Custom Superior Antibodies Services for SMPD4
     GenScript Custom overexpressing Cell Line Services for SMPD4 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

     Regulatory tfbs in SMPD4 promoter
     Search Chromatin IP Primers for SMPD4
     RT2 qPCR Primer Assay in human, mouse, rat SMPD4
     Search GNC Networks for SMPD4
     SABiosciences Custom PCR Arrays for SMPD4
     Search Tocris compounds for SMPD4 (NSMA3)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     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 Biologicals
     Novus Tissue Slides
     Antibodies for SMPD4
     See all of Abcam's Antibodies, Kits and Proteins for SMPD4
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for SMPD4
     Antibodies for SMPD4
     ELISAs for SMPD4
     CLIAs for SMPD4
     Search LifeMap BioReagents cell lines for SMPD4
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMPD4
     SwitchGear 3'UTR luciferase reporter plasmids for SMPD4
     SwitchGear Promoter luciferase reporter plasmids for SMPD4
     ThermoFisher Antibodies for SMPD4
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMPD4
     inGenious Targeting Laboratory - Custom generated mouse model solutions for SMPD4
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SMPD4
    Customized:
     lentivirus for stable overexpression of SMPD4
     lentivirus expression plasmids for stable overexpression of SMPD4
     adenovirus for overexpression of SMPD4
     LSBio Antibodies in human, mouse, rat for SMPD4
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 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      SMPD4 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4