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Tmtc3 Gene Detail
Summary
  • Symbol
    Tmtc3
  • Name
    transmembrane and tetratricopeptide repeat containing 3
  • Synonyms
    9130014E20Rik, B130008E12Rik, mSmile
  • Feature Type
    protein coding gene
  • IDs
    MGI:3036255
    NCBI Gene: 237500
Location & Maps
more
  • Sequence Map
    Chr10:100443902-100487350 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      43449 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 51.47 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    TMTC3, transmembrane and tetratricopeptide repeat containing 3
  • Vertebrate Orthologs
    8
  • Human Ortholog
    TMTC3, transmembrane and tetratricopeptide repeat containing 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    SMILE
  • Links
    NCBI Gene ID: 160418
    neXtProt AC: NX_Q6ZXV5

  • Chr Location
    12q21.32; chr12:88142296-88199887 (+)  GRCh38.p2
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 1 allele in 2 genetic backgrounds
    15 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
    10
  • Chemically induced (other)
    1
  • Gene trapped
    5
  • Targeted
    4
  • Genomic Mutations
    1 involving Tmtc3
  • Incidental Mutations
    Mutagenetix , APF , CvDC
Mice homozygous for a gene trap allele exhibit impaired bronchial smooth muscle and alveolar myofibroblast development that leads to cyanosis and postnatal lethality in some mice.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    9
  • GO References
    2
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
    56
  • Tissues
    22
  • cDNA Data
    51
  • Literature Summary
    2
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000034150 VEGA Gene Model | MGI Sequence Detail 43449 C57BL/6J ±  kb
transcript OTTMUST00000086496 VEGA | MGI Sequence Detail 5993 Not Applicable  
polypeptide OTTMUSP00000046846 VEGA | MGI Sequence Detail 920 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    513 from dbSNP Build 142
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000029817 transmembrane and TPR repeat-containing protein 3
  • InterPro Domains
    IPR013618 Domain of unknown function DUF1736
    IPR011990 Tetratricopeptide-like helical domain
    IPR019734 Tetratricopeptide repeat
    IPR001440 Tetratricopeptide repeat 1
    IPR013105 Tetratricopeptide repeat 2
    IPR013026 Tetratricopeptide repeat-containing domain
Molecular
Reagents
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  • All nucleic 53
    cDNA 51
    Primer pair 1
    Other 1

    Microarray probesets 4
Other
Accession IDs
less
MGI:1918840
References
more
  • Summaries
    All 33
    Developmental Gene Expression 2
    Gene Ontology 2
    Phenotypes 15
  • 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:178869 Yun EJ, et al., mSmile is Necessary for Bronchial Smooth Muscle and Alveolar Myofibroblast Development. Anat Rec (Hoboken). 2012 Jan;295(1):167-76
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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Send questions and comments to User Support. 		last database update
09/27/2016
MGI 6.05 		The Jackson Laboratory