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; chr16:68392230-68482409 (-)  GRCh37.p10

Alleles and phenotypes

All alleles(4) : Targeted(3) Chemically induced(1)
 

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 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (14 annotations)

Process	cell cycle, metabolic process, ...
Component	Golgi apparatus, Golgi cis cisterna, ...
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 Type	Results
RNA in situ	430
RT-PCR	17

cDNA source data(18)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

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 Knockout Project Status	Smpd3

Sequences

Length	Strain/Species
genomic	58994	NCBI Gene Model | MGI Sequence Detail	85441	C57BL/6J
transcript	NM_021491	RefSeq | MGI Sequence Detail	5148	C57BL/6
polypeptide	Q9JJY3	UniProt | EBI | MGI Sequence Detail	655	Not Applicable

All sequences(25) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(264 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:193949 Poirier C, et al., Neutral sphingomyelinase 2 deficiency is associated with lung anomalies similar to emphysema. Mamm Genome. 2012 Dec;23(11-12):758-63
All references(47)

Other accession IDs

MGD-MRK-9873, MGI:1925997, MGI:2142533, MGI:2142795, MGI:95580