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Sgms2 Gene Detail
Summary
  • Symbol
    Sgms2
  • Name
    sphingomyelin synthase 2
  • Synonyms
    4933405A16Rik, 5133401H06Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1921692
    NCBI Gene: 74442
  • Alliance
    gene page
  • Transcription Start Sites
    39 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:131112634-131197172 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 60.91 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2573 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1921692
 protein coding gene Chr3:131112634-131197204 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027888
 protein coding gene Chr3:134118129-134212545 (-)
A/J MGP_AJ_G0027846
 protein coding gene Chr3:129390375-129477345 (-)
AKR/J MGP_AKRJ_G0027811
 protein coding gene Chr3:132760889-132847994 (-)
BALB/cJ MGP_BALBcJ_G0027859
 protein coding gene Chr3:129247945-129334985 (-)
C3H/HeJ MGP_C3HHeJ_G0027588
 protein coding gene Chr3:133166051-133254200 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028302
 protein coding gene Chr3:138842306-138937321 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025640
 protein coding gene Chr3:124912406-124993807 (-)
CAST/EiJ MGP_CASTEiJ_G0027044
 protein coding gene Chr3:132887761-132973325 (-)
CBA/J MGP_CBAJ_G0027564
 protein coding gene Chr3:143509771-143603656 (-)
DBA/2J MGP_DBA2J_G0027704
 protein coding gene Chr3:128597732-128677842 (-)
FVB/NJ MGP_FVBNJ_G0027671
 protein coding gene Chr3:126173002-126262171 (-)
LP/J MGP_LPJ_G0027814
 protein coding gene Chr3:135593790-135683245 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027702
 protein coding gene Chr3:151437714-151530258 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028360
 protein coding gene Chr3:132443762-132529851 (-)
PWK/PhJ MGP_PWKPhJ_G0026768
 protein coding gene Chr3:128338093-128421844 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026593
 protein coding gene Chr3:130503636-130600335 (-)
WSB/EiJ MGP_WSBEiJ_G0027123
 protein coding gene Chr3:133181567-133276293 (-)



Homology
more
  • Human Ortholog
    SGMS2, sphingomyelin synthase 2
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SGMS2, sphingomyelin synthase 2
  • Synonyms
    CDL, SMS2
  • Links
    NCBI Gene ID: 166929
    neXtProt AC: NX_Q8NHU3
    UniProt: Q8NHU3

  • Chr Location
    4q25; chr4:107824563-107915047 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human SGMS2 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    18 phenotypes from 2 alleles in 3 genetic backgrounds
    3 phenotypes from multigenic genotypes
    1 images
    36 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.
Mice homozygous for a knock-out allele exhibit increased ceramide levels; decreased sphingomyelin, sphingomyelin-1-phosphate, and diacylglycerol levels; and resistance to lysenin-mediated cytolysis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    30
  • GO References
    10
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
    962
  • Tissues
    136
  • cDNA Data
    31
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000050931 Ensembl Gene Model | MGI Sequence Detail 84539 C57BL/6J ±  kb
    transcript ENSMUST00000090246 Ensembl | MGI Sequence Detail 5801 Not Applicable  
    polypeptide ENSMUSP00000087713 Ensembl | MGI Sequence Detail 365 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 35
      cDNA 31
      Primer pair 3
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1918555, MGI:2139836
    References
    more
    • Summaries
      All 78
      Developmental Gene Expression 10
      Diseases 1
      Gene Ontology 10
      Phenotypes 36
    • 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:348785 Zhang D, et al., Maternal Ezh1/2 deficiency impairs the function of mitochondria in mouse oocytes and early embryos. J Cell Physiol. 2024 Mar 26;
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory