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Smpd3 Gene Detail
Summary
  • Symbol
    Smpd3
  • Name
    sphingomyelin phosphodiesterase 3, neutral
  • Synonyms
    4631433G07Rik, fro, neutral sphingomyelinase II, nSMase2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1927578
    NCBI Gene: 58994
  • Gene Overview
    MyGene.info: SMPD3
Location & Maps
more
  • Sequence Map
    Chr8:106252548-106337988 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      85441 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    SMPD3, sphingomyelin phosphodiesterase 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SMPD3, sphingomyelin phosphodiesterase 3
    Orthology source: HGNC, HomoloGene
  • Synonyms
    NSMASE2
  • Links
    NCBI Gene ID: 55512
    neXtProt AC: NX_Q9NY59

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

  • HomoloGene
    Vertebrate Homology Class 10260
    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
Human Diseases
more
  • Diseases
    3 with Smpd3 mouse models

Human Disease Mouse Models
       Osteogenesis Imperfecta, Type II; OI2   OMIM: 166210 View 1 model
Osteogenesis Imperfecta, Type III; OI3   OMIM: 259420 View 1 model
Pituitary Hormone Deficiency, Combined, 2; CPHD2   OMIM: 262600 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    70 phenotypes from 2 alleles in 5 genetic backgrounds
    1 images
    14 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    4
  • Chemically induced (other)
    1
  • Targeted
    3
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    277 from dbSNP Build 142
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000015294 sphingomyelin phosphodiesterase 3
  • EC
  • InterPro Domains
    IPR005135 Endonuclease/exonuclease/phosphatase
Molecular
Reagents
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  • All nucleic 24
    cDNA 18
    Primer pair 6

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-9873, MGI:1925997, MGI:2142533, MGI:2142795, MGI:95580
References
more
  • Summaries
    All 53
    Developmental Gene Expression 9
    Diseases 3
    Gene Ontology 6
    Phenotypes 14
  • 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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/19/2016
MGI 6.03
The Jackson Laboratory