About   Help   FAQ
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
  • Alliance
    gene page
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
    7 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
less
  • Phenotype Summary
    70 phenotypes from 8 alleles in 8 genetic backgrounds
    13 phenotypes from multigenic genotypes
    6 images
    34 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.
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
less
  • All GO Annotations
    67
  • GO References
    23
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
    565
  • Tissues
    302
  • cDNA Data
    25
  • Literature Summary
    138
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    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
    less
    • SNPs within 2kb
      64 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 37
      cDNA 26
      Primer pair 10
      Other 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-14732, MGI:1098785
    References
    more
    • Summaries
      All 202
      Developmental Gene Expression 138
      Diseases 1
      Gene Ontology 23
      Phenotypes 34
    • 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:261810 Osterwalder M, et al., Enhancer redundancy provides phenotypic robustness in mammalian development. Nature. 2018 Feb 8;554(7691):239-243
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.     		last database update
    07/31/2018
    MGI 6.12     		The Jackson Laboratory