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Smpd4 Gene Detail
Summary
  • Symbol
    Smpd4
  • Name
    sphingomyelin phosphodiesterase 4
  • Synonyms
    4122402O22Rik, mKIAA1418, neutral membrane (neutral sphingomyelinase-3)
  • Feature Type
    protein coding gene
  • IDs
    MGI:1924876
    NCBI Gene: 77626
  • Alliance
    genome feature page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:17437218-17462692 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 10.92 cM, cytoband B1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    503 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1924876
 protein coding gene Chr16:17437218-17462694 (+)
129S1/SvImJ ENSMUSG00200042474
 protein coding gene Chr16:14435862-14459254 (+)
A/J ENSMUSG00195028943
 protein coding gene Chr16:13993131-14016540 (+)
AKR/J ENSMUSG00220041941
 protein coding gene Chr16:14309413-14332808 (+)
BALB/cJ ENSMUSG00180029405
 protein coding gene Chr16:14234378-14257777 (+)
C3H/HeJ ENSMUSG00175038702
 protein coding gene Chr16:14379397-14402791 (+)
C57BL/6NJ ENSMUSG00215040822
 protein coding gene Chr16:14100494-14123887 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020522
 protein coding gene Chr16:14105760-14132547 (+)
CAST/EiJ ENSTCUG00005044414
 protein coding gene Chr16:14306338-14332437 (+)
CBA/J ENSMUSG00210046071
 protein coding gene Chr16:14395707-14419105 (+)
DBA/2J ENSMUSG00185027305
 protein coding gene Chr16:14341858-14365250 (+)
FVB/NJ ENSMUSG00205024821
 protein coding gene Chr16:14349467-14372864 (+)
JF1/MsJ ENSUMUG00000050168
 protein coding gene Chr16:14424959-14448676 (+)
LP/J ENSMUSG00230039281
 protein coding gene Chr16:16919765-16943157 (+)
NOD/ShiLtJ ENSMUSG00190037475
 protein coding gene Chr16:14481762-14505155 (+)
NZO/HlLtJ ENSMUSG00225031795
 protein coding gene Chr16:20165564-20188964 (+)
PWK/PhJ ENSLUMG00010047649
 protein coding gene Chr16:14307080-14330862 (+)
SPRET/EiJ ENSMSPG00010039431
 protein coding gene Chr16:14323020-14348505 (+)
WSB/EiJ ENSIUOG00005037974
 protein coding gene Chr16:14475860-14499250 (+)



Homology
more
  • Human Ortholog
    SMPD4, sphingomyelin phosphodiesterase 4
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SMPD4, sphingomyelin phosphodiesterase 4
  • Synonyms
    NEDMABA, NEDMEBA, NET13, NSMASE-3, NSMASE3, SKNY
  • Links
    NCBI Gene ID: 55627
    UniProt: Q9NXE4

  • Chr Location
    2q21.1; chr2:130151392-130183901 (-)  GRCh38
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    6 phenotypes from 1 allele in 1 genetic background
    21 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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    40
  • GO References
    11
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
    698
  • Tissues
    96
  • cDNA Data
    133
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000005899 Ensembl Gene Model | MGI Sequence Detail 25475 C57BL/6J ±  kb
    transcript ENSMUST00000006053 Ensembl | MGI Sequence Detail 4623 Not Applicable  
    polypeptide ENSMUSP00000006053 Ensembl | MGI Sequence Detail 823 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 133
      cDNA 133

      Microarray probesets 7
    References
    more
    • Summaries
      All 56
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 11
      Phenotypes 21
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:359862 Inskeep KA, et al., SMPD4-mediated sphingolipid metabolism regulates brain and primary cilia development. Development. 2024 Nov 15;151(22)
    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
    09/08/2026
    MGI 6.24     		The Jackson Laboratory