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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
  • Alliance
    gene page
  • Transcription Start Sites
    25 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:119808734-119822789 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 60.34 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    62 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98495
 protein coding gene Chr5:119808600-119822789 (+)
129S1/SvImJ MGP_129S1SvImJ_G0029998
 protein coding gene Chr5:122954973-122969033 (+)
A/J MGP_AJ_G0029962
 protein coding gene Chr5:117890159-117904968 (+)
AKR/J MGP_AKRJ_G0029901
 protein coding gene Chr5:121697510-121711426 (+)
BALB/cJ MGP_BALBcJ_G0029973
 protein coding gene Chr5:119313077-119327180 (+)
C3H/HeJ MGP_C3HHeJ_G0029693
 protein coding gene Chr5:122233838-122247969 (+)
C57BL/6NJ MGP_C57BL6NJ_G0030428
 protein coding gene Chr5:127587314-127603408 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027654
 protein coding gene Chr5:112627918-112641945 (+)
CAST/EiJ MGP_CASTEiJ_G0029102
 protein coding gene Chr5:121317421-121333411 (+)
CBA/J MGP_CBAJ_G0029661
 protein coding gene Chr5:132547312-132561321 (+)
DBA/2J MGP_DBA2J_G0029811
 protein coding gene Chr5:117985364-117999859 (+)
FVB/NJ MGP_FVBNJ_G0029767
 protein coding gene Chr5:116895314-116909389 (+)
LP/J MGP_LPJ_G0029899
 protein coding gene Chr5:123442141-123456182 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029798
 protein coding gene Chr5:136576594-136590629 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0030469
 protein coding gene Chr5:121265083-121279108 (+)
PWK/PhJ MGP_PWKPhJ_G0028815
 protein coding gene Chr5:116731048-116745526 (+)
SPRET/EiJ MGP_SPRETEiJ_G0028653
 protein coding gene Chr5:118904566-118918546 (+)
WSB/EiJ MGP_WSBEiJ_G0029177
 protein coding gene Chr5:121854546-121868578 (+)



Homology
more
  • Human Ortholog
    TBX3, T-box transcription factor 3
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TBX3, T-box transcription factor 3
  • 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
    52 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
    97
  • GO References
    29
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 population 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
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
    1385
  • Tissues
    339
  • cDNA Data
    26
  • Literature Summary
    174
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000018604 Ensembl Gene Model | MGI Sequence Detail 14056 C57BL/6J ±  kb
    transcript ENSMUST00000018748 Ensembl | MGI Sequence Detail 4856 Not Applicable  
    polypeptide ENSMUSP00000018748 Ensembl | MGI Sequence Detail 741 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      8 Sequences
    • Protein Ontology
      PR:000016151 T-box transcription factor TBX3
      (term hierarchy)
    • InterPro Domains
      IPR008967 p53-like transcription factor, DNA-binding domain superfamily
      IPR036960 T-box superfamily
      IPR001699 T-box transcription factor
      IPR022582 T-box transcription factor 2/3, transcription activation domain
      IPR046360 T-box transcription factor, DNA-binding domain
      IPR002070 Transcription factor, Brachyury
      IPR018186 Transcription factor, T-box, conserved site
    Molecular
    Reagents
    less
    • All nucleic 57
      cDNA 27
      Primer pair 13
      Other 17

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-14732, MGI:1098785
    References
    more
    • Summaries
      All 250
      Developmental Gene Expression 174
      Diseases 1
      Gene Ontology 29
      Phenotypes 52
    • 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:330215 Veerakumar A, et al., Molecularly defined circuits for cardiovascular and cardiopulmonary control. Nature. 2022 Jun;606(7915):739-746
    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)
    Citing These Resources
    Funding Information
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    11/22/2022
    MGI 6.22     		The Jackson Laboratory