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Smpd3 Gene Detail
Summary
  • Symbol
    Smpd3
  • Name
    sphingomyelin phosphodiesterase 3, neutral
  • Synonyms
    4631433G07Rik, fro, neutral sphingomyelinase II, Nsm2, nSMase2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1927578
    NCBI Gene: 58994
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:106979180-107064597 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 53.12 cM, cytoband D2
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1617 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1927578
 protein coding gene Chr8:106979180-107064620 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034081
 protein coding gene Chr8:108611447-108701556 (-)
A/J MGP_AJ_G0034062
 protein coding gene Chr8:104263051-104351130 (-)
AKR/J MGP_AKRJ_G0033988
 protein coding gene Chr8:107283025-107368203 (-)
BALB/cJ MGP_BALBcJ_G0034055
 protein coding gene Chr8:104444659-104530162 (-)
C3H/HeJ MGP_C3HHeJ_G0033767
 protein coding gene Chr8:108014261-108099993 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034575
 protein coding gene Chr8:112587362-112673361 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031517
 protein coding gene Chr8:97395312-97421455 (-)
CAST/EiJ MGP_CASTEiJ_G0033093
 protein coding gene Chr8:107547146-107572845 (-)
CBA/J MGP_CBAJ_G0033740
 protein coding gene Chr8:116208485-116300974 (-)
DBA/2J MGP_DBA2J_G0033895
 protein coding gene Chr8:103596979-103682464 (-)
FVB/NJ MGP_FVBNJ_G0033840
 protein coding gene Chr8:102530574-102617113 (-)
LP/J MGP_LPJ_G0033986
 protein coding gene Chr8:108813077-108900091 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033884
 protein coding gene Chr8:119386604-119472814 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034593
 protein coding gene Chr8:107243346-107269045 (-)
PWK/PhJ MGP_PWKPhJ_G0032794
 protein coding gene Chr8:103016902-103103858 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032635
 protein coding gene Chr8:105952550-105978712 (-)
WSB/EiJ MGP_WSBEiJ_G0033209
 protein coding gene Chr8:107932065-108017475 (-)



Homology
more
  • Human Ortholog
    SMPD3, sphingomyelin phosphodiesterase 3
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SMPD3, sphingomyelin phosphodiesterase 3
  • Synonyms
    NSMASE2
  • Links
    NCBI Gene ID: 55512
    neXtProt AC: NX_Q9NY59
    UniProt: Q9NY59

  • Chr Location
    16q22.1; chr16:68358327-68448508 (-)  GRCh38
Human Diseases
more
  • Diseases
    4 with Smpd3 mouse models

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 1 model
IDs
 View 1 model
IDs
 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
less
  • Phenotype Summary
    70 phenotypes from 2 alleles in 5 genetic backgrounds
    1 images
    35 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    83
  • GO References
    29
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1166
  • Tissues
    141
  • cDNA Data
    19
  • Literature Summary
    15
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 58994 NCBI Gene Model | MGI Sequence Detail 85418 C57BL/6J ±  kb
    transcript NM_021491 RefSeq | MGI Sequence Detail 5125 C57BL/6  
    polypeptide Q9JJY3 UniProt | EBI | MGI Sequence Detail 655 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 27
      cDNA 19
      Primer pair 8

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-9873, MGI:1925997, MGI:2142533, MGI:2142795, MGI:95580
    References
    more
    • Summaries
      All 88
      Developmental Gene Expression 15
      Diseases 3
      Gene Ontology 29
      Phenotypes 35
    • 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:348024 Touahri Y, et al., Pten regulates endocytic trafficking of cell adhesion and Wnt signaling molecules to pattern the retina. Cell Rep. 2024 Apr 23;43(4):114005
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory