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SMPD4 Gene

protein-coding   GIFtS: 53
GCID: GC02M130908

Sphingomyelin Phosphodiesterase 4, Neutral Membrane (Neutral...

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Sphingomyelin Phosphodiesterase 4, Neutral Membrane (Neutral
Sphingomyelinase-3)1 2
     NSMASE-32
Neutral Sphingomyelinase 32 3     SKNY Protein2
Neutral Sphingomyelinase III2 3     Sphingomyelin Phosphodiesterase 42
NSMASE32 5     EC 3.1.4.123
KIAA14183 5     nSMase-33
NET132     nSMase33

External Ids:    HGNC: 329491   Entrez Gene: 556272   Ensembl: ENSG000001366997   OMIM: 6104575   UniProtKB: Q9NXE43   

Export aliases for SMPD4 gene to outside databases

Previous GC identifers: GC02M130626 GC02M123204


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   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 Chromatin IP Primers for SMPD4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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.)
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UniProtKB/Swiss-Prot: NSMA3_HUMAN, Q9NXE4 (See protein sequence)
Recommended Name: Sphingomyelin phosphodiesterase 4  
Size: 827 amino acids; 93352 Da
Cofactor: Magnesium
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: 

  • Ubiquitination2 at Lys106, Lys238, Lys461, Lys529, Lys541, Lys565, Lys621
  • Modification sites at PhosphoSitePlus

  • See SMPD4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    SMPD4 Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for SMPD4 


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

    Graphical View of Domain Structure for InterPro Entry Q9NXE4

    ProtoNet protein and cluster: Q9NXE4


    Find genes that share domains with SMPD4           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.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004767sphingomyelin phosphodiesterase activity TAS--
    GO:0046872metal ion binding IEA--
    GO:0050290sphingomyelin phosphodiesterase D activity IDA16517606
         
    Find genes that share ontologies with SMPD4           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Smpd4 (no phenotypes)

    Find genes that share phenotypes with SMPD4           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SMPD4
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SMPD4
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    miRNA
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    miRTarBase miRNAs that target SMPD4:
    hsa-mir-16-5p (MIRT031423), hsa-mir-331-3p (MIRT043289), hsa-mir-124-3p (MIRT022153)

    Block miRNA regulation of human, mouse, rat SMPD4 using miScript Target Protectors
    3 qRT-PCR 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
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NSMA3_HUMAN, Q9NXE4: Endoplasmic reticulum membrane; Single-pass membrane protein. Golgi apparatus membrane;
    Single-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    plasma membrane3
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (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

    Find genes that share ontologies with SMPD4           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).
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    SuperPaths for SMPD4 About    
    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
    3sphingomyelin metabolism/ceramide salvage
    sphingomyelin metabolism/ceramide salvage


    Find genes that share SuperPaths with SMPD4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SMPD4
        sphingomyelin metabolism/ceramide salvage

    1 Reactome Pathway for SMPD4
        Glycosphingolipid metabolism


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SMPD4
    Interactions:

        Search GeneGlobe Interaction Network 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): Selected biological process terms (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

    Find genes that share ontologies with SMPD4           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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SMPD4 (NSMA3)

    Selected 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



    (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 )
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    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
    Selected 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
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    SwitchGear 3'UTR luciferase reporter plasmidSMPD4 3' UTR sequence
    Inhib. RNA
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    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 

    Selected 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 

    Selected AceView cDNA sequences (see all 441):

    BM760462 BQ052990 BX382883 AU124452 AB037839 BX381771 BM854754 BQ053848 
    CR533550 BQ929401 BQ644248 BQ961875 BE908461 BQ690983 AI940732 BX428098 
    AI393912 BU183651 AK126920 AK000304 AA298608 AA452605 BM810440 BQ018283 

    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™, 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)
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    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

    SMPD4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SMPD4 Protein Expression

    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

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    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SMPD4 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smpd41 , 5 sphingomyelin phosphodiesterase 41, 5 85.6(n)1
    90.27(a)1
      16 (10.92 cM)5
    776261  NM_029945.31  NP_084221.21 
     176193545 
    chicken
    (Gallus gallus)
    Aves SMPD41 sphingomyelin phosphodiesterase 4, neutral membrane more 70.63(n)
    75.15(a)
      416942  XM_415236.4  XP_415236.3 
    lizard
    (Anolis carolinensis)
    Reptilia SMPD46
    sphingomyelin phosphodiesterase 4, neutral membran...
    61(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 43.27(n)
    29.53(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)
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    Paralogs for SMPD4 gene

    Find genes that share paralogs with SMPD4           About GenesLikeMe


    Selected 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), 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)
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    Selected SNPs for SMPD4 (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) Selected 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

    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610457    OMIM disorders: --


    Find genes that share disorders with SMPD4           About GenesLikeMe

    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)
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    PubMed articles for SMPD4 gene, integrated from 10 sources (see all 31):
    (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. (J. Biol. Chem. 2006)
    2. 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)
    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. (Nature 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. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Genome Res. 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. (DNA Res. 2000)
    8. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    10. 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. (Nat. Cell Biol. 2012)

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

    (According to HUGE)
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    HUGE: KIAA1418

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