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Smpd3
Gene Detail
Symbol

Name
ID
Smpd3
sphingomyelin phosphodiesterase 3, neutral
MGI:1927578
Synonyms
4631433G07Rik, fro, neutral sphingomyelinase II, nSMase2
Feature Type
protein coding gene
Genetic Map
Chromosome 8
53.12 cM, cytoband D2
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr8:106252548-106337988 bp, - strand
From NCBI annotation of GRCm38

  85441 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:10260  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: SMPD3
Gene Tree: Smpd3

Human
homologs
SMPD3, sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 55512
neXtProt AC: NX_Q9NY59

Human Synonyms: NSMASE2

Human Chr (Location): 16q22.1; chr16:68358327-68448506 (-)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Chemically induced (other)(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygous null mice exhibit dwarfism, delayed sexual and gonad maturation, delayed ossification of the long bones, and reduced serum levels of thyroxine, triiodothyronine, cortisol, and insulin-like growth factor.
 
Human Diseases Modeled in Mice Using Smpd3 (3)    Mutations Annotated to Human Diseases (2)    Phenotype Images(1)
Interactions
Smpd3 interacts with 304 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (27 annotations)
Process artery smooth muscle contraction, cell cycle, ...
Component cell, cytoplasm, ...
Function hydrolase activity, metal ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (9 records)
Data Summary: Results (447)    Tissues (135)    Images (50)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 430
RT-PCR 17
cDNA source data(18)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: Xenbase smpd3    NEW 
Molecular
reagents
All nucleic(24) cDNA(18) Primer pair(6)
Microarray probesets(5)
Other database
links
Ensembl Gene Model ENSMUSG00000031906 (Evidence)
Entrez Gene 58994 (Evidence)
NIA Mouse Gene Index U030199
EC 3.1.4.12
Consensus CDS Project CCDS22634.1
International Mouse Phenotyping Consortium Status Smpd3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 58994 NCBI Gene Model | MGI Sequence Detail 85441 C57BL/6J ±  kb
transcript NM_021491 RefSeq | MGI Sequence Detail 5148 C57BL/6 
polypeptide Q9JJY3 UniProt | EBI | MGI Sequence Detail 655 Not Applicable 

For the selected sequences
All sequences(35) RefSeq(12) UniProt(2)
Polymorphisms
SNPs within 2kb(277 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR005135 Endonuclease/exonuclease/phosphatase
Protein Ontology PR:000015294 sphingomyelin phosphodiesterase 3
Graphical View of Protein Domain Structure
References
(Earliest) J:6711 Guenet JL, et al., Fragilitas ossium: a new autosomal recessive mutation in the mouse. J Hered. 1981 Nov-Dec;72(6):440-1
(Latest) J:218412 Dotson PP, et al., Neutral sphingomyelinase-2 is a redox sensitive enzyme: role of catalytic cysteine residues in regulation of enzymatic activity through changes in oligomeric state. Biochem J. 2015 Feb 1;465(3):371-82
All references(54)
Disease annotation references (3)
Other
accession IDs
MGD-MRK-9873, MGI:1925997, MGI:2142533, MGI:2142795, MGI:95580

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory