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Smtn Gene Detail
Summary
  • Symbol
    Smtn
  • Name
    smoothelin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1354727
    NCBI Gene: 29856
  • Alliance
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:3467522-3489337 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 11, 2.47 cM, cytoband A2-A3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    453 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1354727
protein coding gene Chr11:3467522-3490612 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017961
protein coding gene Chr11:391744-414826 (-)
A/J MGP_AJ_G0017934
protein coding gene Chr11:435111-458258 (-)
AKR/J MGP_AKRJ_G0017898
protein coding gene Chr11:452999-476079 (-)
BALB/cJ MGP_BALBcJ_G0017902
protein coding gene Chr11:408069-431153 (-)
C3H/HeJ MGP_C3HHeJ_G0017715
protein coding gene Chr11:391363-414451 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018355
protein coding gene Chr11:465742-488829 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016014
protein coding gene Chr11:344429-367405 (-)
CAST/EiJ MGP_CASTEiJ_G0017277
protein coding gene Chr11:343673-368951 (-)
CBA/J MGP_CBAJ_G0017690
protein coding gene Chr11:628799-651889 (-)
DBA/2J MGP_DBA2J_G0017801
protein coding gene Chr11:353712-376797 (-)
FVB/NJ MGP_FVBNJ_G0017792
protein coding gene Chr11:385080-408515 (-)
LP/J MGP_LPJ_G0017871
protein coding gene Chr11:489523-512610 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017818
protein coding gene Chr11:374672-397763 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018394
protein coding gene Chr11:466261-489342 (-)
PWK/PhJ MGP_PWKPhJ_G0017057
protein coding gene Chr11:329036-352195 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016853
protein coding gene Chr11:419988-443006 (-)
WSB/EiJ MGP_WSBEiJ_G0017331
protein coding gene Chr11:341739-364821 (-)



Homology
more
  • Human Ortholog
    SMTN, smoothelin
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SMTN, smoothelin
  • Links
    NCBI Gene ID: 6525
    neXtProt AC: NX_P53814
    UniProt: P53814

  • Chr Location
    22q12.2; chr22:31064105-31104757 (+)  GRCh38

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    25 phenotypes from 3 alleles in 3 genetic backgrounds
    9 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 disruptions of both the A and B isoforms of this gene display partial postnatal lethality, impaired intestinal smooth muscle contractility and thus hampered intestinal transit and diverticulosis. Mice lacking only the B isoform appearnormal.
Gene Ontology
(GO)
Classifications
less
  • 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 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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 29856 NCBI Gene Model | MGI Sequence Detail 21816 C57BL/6J ±  kb
    transcript NM_001284428 RefSeq | MGI Sequence Detail 3406 C57BL/6  
    polypeptide Q921U8 UniProt | EBI | MGI Sequence Detail 923 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 116
      cDNA 116

      Microarray probesets 3
    References
    more
    • Summaries
      All 39
      Developmental Gene Expression 8
      Gene Ontology 3
      Phenotypes 9
    • Earliest
      J:60544 Kramer J, et al., A novel isoform of the smooth muscle cell differentiation marker smoothelin [see comments] [published erratum appears in J Mol Med 1999 Apr;77(4):399]. J Mol Med. 1999 Feb;77(2):294-8
    • Latest
      J:339855 Gannoun L, et al., Axon guidance genes control hepatic artery development. Development. 2023 Aug 15;150(16):dev201642

    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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    last database update
    12/10/2024
    MGI 6.24
    The Jackson Laboratory