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Tbx3 Gene Detail
Summary
  • Symbol
    Tbx3
  • Name
    T-box 3
  • Synonyms
    D5Ertd189e
  • Feature Type
    protein coding gene
  • IDs
    MGI:98495
    NCBI Gene: 21386
  • Gene Overview
    MyGene.info: TBX3
Location & Maps
more
  • Sequence Map
    Chr5:119670669-119684724 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      14056 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 60.34 cM
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    TBX3, T-box 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TBX3, T-box 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    TBX3-ISO, UMS, XHL
  • Links
    NCBI Gene ID: 6926
    neXtProt AC: NX_O15119
    UniProt: O15119

  • Chr Location
    12q24.21; chr12:114670254-114684164 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Tbx3 mouse models; 1 with human TBX3 associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    70 phenotypes from 8 alleles in 8 genetic backgrounds
    13 phenotypes from multigenic genotypes
    6 images
    32 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.
Homozygous null mice die are embryonic lethal exhibiting defects in the yolk sac and limb defects. Female embryos show impaired mammary bud induction. Mice homozygous for hypomorphic alleles exhibit varying degrees of prenatal lethality and premature death, heart defects and limb abnormalities.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    67
  • GO References
    23
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
    534
  • Tissues
    285
  • cDNA Data
    24
  • Literature Summary
    131
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000029655 VEGA Gene Model | MGI Sequence Detail 14056 C57BL/6J ±  kb
transcript OTTMUST00000073569 VEGA | MGI Sequence Detail 4856 Not Applicable  
polypeptide OTTMUSP00000038109 VEGA | MGI Sequence Detail 741 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    64 from dbSNP Build 142
Protein
Information
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  • UniProt
    8 Sequences
  • Protein Ontology
    PR:000016151 T-box transcription factor TBX3
    (term hierarchy)
  • InterPro Domains
    IPR008967 p53-like transcription factor, DNA-binding
    IPR002070 Transcription factor, Brachyury
    IPR001699 Transcription factor, T-box
    IPR018186 Transcription factor, T-box, conserved site
    IPR022582 Transcription factor, T-box, region of unknown function
Molecular
Reagents
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  • All nucleic 35
    cDNA 25
    Primer pair 9
    Other 1

    Microarray probesets 7
Other
Accession IDs
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MGD-MRK-14732, MGI:1098785
References
more
  • Summaries
    All 186
    Developmental Gene Expression 131
    Diseases 1
    Gene Ontology 23
    Phenotypes 32
  • Earliest
    J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
  • Latest
    J:237201 Espinosa-Medina I, et al., The sacral autonomic outflow is sympathetic. Science. 2016 Nov 18;354(6314):893-897
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
06/20/2017
MGI 6.10 		The Jackson Laboratory