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Sms Gene Detail
Summary
  • Symbol
    Sms
  • Name
    spermine synthase
  • Synonyms
    SpmST
  • Feature Type
    protein coding gene
  • IDs
    MGI:109490
    NCBI Gene: 20603
  • Gene Overview
    MyGene.info: SMS
Location & Maps
more
  • Sequence Map
    ChrX:157443855-157492287 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      48433 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 72.48 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    SMS, spermine synthase
  • Vertebrate Orthologs
    11
  • Human Ortholog
    SMS, spermine synthase
    Orthology source: HGNC, HomoloGene
  • Synonyms
    MRSR, SPMSY, SpS, SRS
  • Links
    NCBI Gene ID: 6611
    neXtProt AC: NX_P52788

  • Chr Location
    Xp22.1; chrX:21940573-21994837 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 88709
    1 human;2 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: SMS
  • Gene Tree
    Sms
Human Diseases
more
  • Diseases
    1 with human SMS associations

Human Disease Mouse Models
       Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type; MRXSSR   OMIM: 309583
Click on a disease name to see all genes associated with that disease.

  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    13 phenotypes from 1 allele in 2 genetic backgrounds
    33 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.
  • All Mutations and Alleles
    26
  • Gene trapped
    23
  • Radiation induced
    1
  • Targeted
    2
  • Genomic Mutations
    1 involving Sms
Male mice hemizygous for a knock-out allele exhibit muscle weakness, decreased lean body mass and bone mineral density, lumbar lordosis, postnatal growth retardation, and male infertility.
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019398 VEGA Gene Model | MGI Sequence Detail 48433 C57BL/6J ±  kb
transcript OTTMUST00000046291 VEGA | MGI Sequence Detail 3717 Not Applicable  
polypeptide OTTMUSP00000020908 VEGA | MGI Sequence Detail 366 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    204 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 113
    Genomic 1
    cDNA 105
    Primer pair 7

    Microarray probesets 6
Other
Accession IDs
less
MGD-MRK-39489, MGI:2147883
References
more
  • Summaries
    All 39
    Developmental Gene Expression 6
    Diseases 2
    Gene Ontology 4
    Phenotypes 33
  • Earliest
    J:38621 Strom TM, et al., Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia. Hum Mol Genet. 1997 Feb;6(2):165-71
  • Latest
    J:213427 Adissu HA, et al., Histopathology reveals correlative and unique phenotypes in a high-throughput mouse phenotyping screen. Dis Model Mech. 2014 May;7(5):515-24

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory