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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
  • Transcription Start Sites
    14 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:131318985-131491271 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 60.91 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    543 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 Chr3:131318985-131491411 (-)
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
    10
  • Human Ortholog
    SGMS2, sphingomyelin synthase 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    SMS2
  • Links
    NCBI Gene ID: 166929
    neXtProt AC: NX_Q8NHU3
    UniProt: Q8NHU3

  • Chr Location
    4q25; chr4:107823645-107915047 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 32705
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: SGMS2
  • Gene Tree
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    18 phenotypes from 2 alleles in 3 genetic backgrounds
    5 phenotypes from multigenic genotypes
    1 images
    20 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 74442 NCBI Gene Model | MGI Sequence Detail 172287 C57BL/6J ±  kb
    transcript NM_028943 RefSeq | MGI Sequence Detail 5791 Not Specified  
    polypeptide Q9D4B1 UniProt | EBI | MGI Sequence Detail 365 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 31
      cDNA 31

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1918555, MGI:2139836
    References
    more
    • Summaries
      All 57
      Developmental Gene Expression 7
      Diseases 1
      Gene Ontology 8
      Phenotypes 20
    • 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:255485 Li S, et al., Transcription Factor CTIP1/ BCL11A Regulates Epidermal Differentiation and Lipid Metabolism During Skin Development. Sci Rep. 2017 Oct 18;7(1):13427

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    Funding Information
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory