Human Gene SMPD2 (ENST00000258052.8_4) from GENCODE V47lift37
  Description: sphingomyelin phosphodiesterase 2 (from RefSeq NM_003080.3)
Gencode Transcript: ENST00000258052.8_4
Gencode Gene: ENSG00000135587.9_10
Transcript (Including UTRs)
   Position: hg19 chr6:109,761,927-109,765,122 Size: 3,196 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr6:109,762,325-109,765,108 Size: 2,784 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:109,761,927-109,765,122)mRNA (may differ from genome)Protein (423 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NSMA_HUMAN
DESCRIPTION: RecName: Full=Sphingomyelin phosphodiesterase 2; EC=3.1.4.12; AltName: Full=Lyso-platelet-activating factor-phospholipase C; Short=Lyso-PAF-PLC; AltName: Full=Neutral sphingomyelinase; Short=N-SMase; Short=nSMase;
FUNCTION: Converts sphingomyelin to ceramide. Hydrolyze 1-acyl-2- lyso-sn-glycero-3-phosphocholine (lyso-PC) and 1-O-alkyl-2-lyso- sn-glycero-3-phosphocholine (lyso-platelet-activating factor). The physiological substrate seems to be Lyso-PAF.
CATALYTIC ACTIVITY: Sphingomyelin + H(2)O = N-acylsphingosine + phosphocholine.
COFACTOR: Magnesium.
BIOPHYSICOCHEMICAL PROPERTIES: pH dependence: Optimum pH is 6.5-7.5;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
SIMILARITY: Belongs to the neutral sphingomyelinase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SMPD2
Diseases sorted by gene-association score: lipid storage disease (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 67.50 RPKM in Testis
Total median expression: 390.43 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -202.20398-0.508 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005135 - Endo/exonuclease/phosphatase

Pfam Domains:
PF03372 - Endonuclease/Exonuclease/phosphatase family

SCOP Domains:
56219 - DNase I-like

ModBase Predicted Comparative 3D Structure on O60906
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004767 sphingomyelin phosphodiesterase activity
GO:0016787 hydrolase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006629 lipid metabolic process
GO:0006665 sphingolipid metabolic process
GO:0006684 sphingomyelin metabolic process
GO:0009612 response to mechanical stimulus
GO:0035556 intracellular signal transduction
GO:0046513 ceramide biosynthetic process
GO:2000304 positive regulation of ceramide biosynthetic process

Cellular Component:
GO:0005622 intracellular
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005901 caveola
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK310148 - Homo sapiens cDNA, FLJ17190.
AK313515 - Homo sapiens cDNA, FLJ94073, highly similar to Homo sapiens sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) (SMPD2), mRNA.
AJ222801 - Homo sapiens mRNA for neutral sphingomyelinase.
BC000038 - Homo sapiens sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase), mRNA (cDNA clone MGC:1617 IMAGE:3509845), complete cds.
DQ891879 - Synthetic construct clone IMAGE:100004509; FLH180876.01X; RZPDo839G12134D sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) (SMPD2) gene, encodes complete protein.
CU674004 - Synthetic construct Homo sapiens gateway clone IMAGE:100018251 5' read SMPD2 mRNA.
HQ447883 - Synthetic construct Homo sapiens clone IMAGE:100071235; CCSB003603_02 sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) (SMPD2) gene, encodes complete protein.
KJ897585 - Synthetic construct Homo sapiens clone ccsbBroadEn_06979 SMPD2 gene, encodes complete protein.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-7277 - sphingolipid biosynthesis (mammals)
PWY3DJ-11281 - sphingomyelin metabolism

BioCarta from NCI Cancer Genome Anatomy Project
h_edg1Pathway - Phospholipids as signalling intermediaries

Reactome (by CSHL, EBI, and GO)

Protein O60906 (Reactome details) participates in the following event(s):

R-HSA-193672 Sphingomyelinase is activated by the NGF:p75NTR complex
R-HSA-5626981 TNF-alpha:TNFR1:NSMAF:GNB2L1 associates with SMPD2,3
R-HSA-193706 Production of ceramide which can activate JNK and other targets
R-HSA-1606273 Sphingomyelin phosphodiesterase 2 and 3 (SMPD2 and 3) hydrolyse sphingomyelin to ceramide (plasma membrane)
R-HSA-193681 Ceramide signalling
R-HSA-5626978 TNFR1-mediated ceramide production
R-HSA-193704 p75 NTR receptor-mediated signalling
R-HSA-75893 TNF signaling
R-HSA-73887 Death Receptor Signalling
R-HSA-1660662 Glycosphingolipid metabolism
R-HSA-162582 Signal Transduction
R-HSA-428157 Sphingolipid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000258052.1, ENST00000258052.2, ENST00000258052.3, ENST00000258052.4, ENST00000258052.5, ENST00000258052.6, ENST00000258052.7, NM_003080, NSMA_HUMAN, O60906, Q5TED1, Q9BWR3, SMPD2 , uc317gau.1, uc317gau.2
UCSC ID: ENST00000258052.8_4
RefSeq Accession: NM_003080.3
Protein: O60906 (aka NSMA_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.