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Smpd2 Gene Detail
Summary
  • Symbol
    Smpd2
  • Name
    sphingomyelin phosphodiesterase 2, neutral
  • Synonyms
    nSMase
  • Feature Type
    protein coding gene
  • IDs
    MGI:1278330
    NCBI Gene: 20598
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:41363168-41366410 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 22.42 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    158 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1278330
 protein coding gene Chr10:41361638-41366410 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017174
 protein coding gene Chr10:40127532-40132259 (-)
A/J MGP_AJ_G0017151
 protein coding gene Chr10:39009989-39014716 (-)
AKR/J MGP_AKRJ_G0017111
 protein coding gene Chr10:39595365-39600092 (-)
BALB/cJ MGP_BALBcJ_G0017113
 protein coding gene Chr10:39078949-39083676 (-)
C3H/HeJ MGP_C3HHeJ_G0016934
 protein coding gene Chr10:39910883-39915610 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017572
 protein coding gene Chr10:41350693-41355420 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015268
 protein coding gene Chr10:36947748-36952636 (-)
CAST/EiJ MGP_CASTEiJ_G0016513
 protein coding gene Chr10:40112333-40117054 (-)
CBA/J MGP_CBAJ_G0016908
 protein coding gene Chr10:43235726-43240453 (-)
DBA/2J MGP_DBA2J_G0017013
 protein coding gene Chr10:38514037-38518764 (-)
FVB/NJ MGP_FVBNJ_G0017008
 protein coding gene Chr10:38013596-38018323 (-)
LP/J MGP_LPJ_G0017090
 protein coding gene Chr10:40115565-40120292 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017038
 protein coding gene Chr10:44059459-44064186 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017609
 protein coding gene Chr10:39576521-39581248 (-)
PWK/PhJ MGP_PWKPhJ_G0016293
 protein coding gene Chr10:38390630-38395390 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016077
 protein coding gene Chr10:39392315-39397039 (-)
WSB/EiJ MGP_WSBEiJ_G0016576
 protein coding gene Chr10:39902048-39906810 (-)



Homology
more
  • Human Ortholog
    SMPD2, sphingomyelin phosphodiesterase 2
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SMPD2, sphingomyelin phosphodiesterase 2
  • Synonyms
    ISC1, NSMASE, NSMASE1
  • Links
    NCBI Gene ID: 6610
    neXtProt AC: NX_O60906
    UniProt: O60906

  • Chr Location
    6q21; chr6:109440724-109443919 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    15 phenotype references
Mice homozygous for a knock-out allele are phenotypically normal, have a normal lifespan, and display neither lipid accumulation nor changes in sphingomyelin levels despite grossly reduced enzyme activity in all organs except brain.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    24
  • GO References
    9
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
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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
    803
  • Tissues
    97
  • cDNA Data
    69
  • Literature Summary
    3
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 20598 NCBI Gene Model | MGI Sequence Detail 3243 C57BL/6J ±  kb
transcript NR_190511 RefSeq | MGI Sequence Detail 1618 C57BL/6  
polypeptide O70572 UniProt | EBI | MGI Sequence Detail 419 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 71
    cDNA 69
    Primer pair 2

    Microarray probesets 4
Other
Accession IDs
less
MGI:2143809
References
more
  • Summaries
    All 53
    Developmental Gene Expression 3
    Gene Ontology 9
    Phenotypes 15
  • Earliest
    J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
  • Latest
    J:356727 Zhu Z, et al., Neutral Sphingomyelinase 2 Mediates Oxidative Stress Effects on Astrocyte Senescence and Synaptic Plasticity Transcripts. Mol Neurobiol. 2022 May;59(5):3233-3253
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
11/12/2024
MGI 6.24 		The Jackson Laboratory