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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 zebrafish

Gene Tree: Smpd3

Human
homologs
Human Homolog SMPD3, sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
NCBI Gene ID 55512
neXtProt AC  NX_Q9NY59
Human Synonyms  NSMASE2
Human Chr (Location)  16q22.1; chr16:68358327-68448506 (-)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Chemically induced (other)(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
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 Using Mouse Smpd3 (3)    Alleles Annotated to Human Diseases(2)    Phenotype Images(1)
Interactions
Smpd3 interacts with 305 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (17 annotations)
Process cell cycle, hematopoietic progenitor cell differentiation, ...
Component cell, Golgi apparatus, ...
Function hydrolase activity, metal ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (8 records)
Data Summary: Results (447)    Tissues (134)    Images (50)
Theiler Stages: 22, 23, 24, 28
Assay TypeResults
RNA in situ 430
RT-PCR 17
cDNA source data(18)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(24) cDNA(18) Primer pair(6)
Microarray probesets(5)
Other database
links
Ensembl Gene ModelENSMUSG00000031906 (Evidence)
Entrez Gene58994 (Evidence)
NIA Mouse Gene IndexU030199
EC3.1.4.12
Consensus CDS ProjectCCDS22634.1
International Mouse Knockout Project StatusSmpd3
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(31) RefSeq(8) 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:202604 Nagamachi A, et al., Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7. Cancer Cell. 2013 Sep 9;24(3):305-17
All references(50)
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
08/12/2014
MGI 5.19
The Jackson Laboratory