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Tbx2 Gene Detail
Summary
  • Symbol
    Tbx2
  • Name
    T-box 2
  • Feature Type
    protein coding gene
  • IDs
    MGI:98494
    NCBI Gene: 21385
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:85723441-85732774 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 51.34 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    203 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98494
 protein coding gene Chr11:85723377-85732774 (+)
129S1/SvImJ MGP_129S1SvImJ_G0018883
 protein coding gene Chr11:87363722-87373137 (+)
A/J MGP_AJ_G0018850
 protein coding gene Chr11:84005363-84014749 (+)
AKR/J MGP_AKRJ_G0018820
 protein coding gene Chr11:86522082-86531491 (+)
BALB/cJ MGP_BALBcJ_G0018823
 protein coding gene Chr11:84389219-84398616 (+)
C3H/HeJ MGP_C3HHeJ_G0018637
 protein coding gene Chr11:86543875-86553261 (+)
C57BL/6NJ MGP_C57BL6NJ_G0019275
 protein coding gene Chr11:90015593-90024990 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016908
 protein coding gene Chr11:81046330-81055682 (+)
CAST/EiJ MGP_CASTEiJ_G0018192
 protein coding gene Chr11:87201916-87211318 (+)
CBA/J MGP_CBAJ_G0018608
 protein coding gene Chr11:93812364-93821750 (+)
DBA/2J MGP_DBA2J_G0018716
 protein coding gene Chr11:83578787-83588180 (+)
FVB/NJ MGP_FVBNJ_G0018705
 protein coding gene Chr11:83077515-83086912 (+)
LP/J MGP_LPJ_G0018786
 protein coding gene Chr11:87860974-87870360 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0018732
 protein coding gene Chr11:93930089-93939486 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0019315
 protein coding gene Chr11:86764158-86773538 (+)
PWK/PhJ MGP_PWKPhJ_G0017961
 protein coding gene Chr11:84360778-84370164 (+)
SPRET/EiJ MGP_SPRETEiJ_G0017753
 protein coding gene Chr11:86306407-86315979 (+)
WSB/EiJ MGP_WSBEiJ_G0018243
 protein coding gene Chr11:86615983-86625380 (+)



Homology
more
  • Human Ortholog
    TBX2, T-box transcription factor 2
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TBX2, T-box transcription factor 2
  • Synonyms
    VETD
  • Links
    NCBI Gene ID: 6909
    neXtProt AC: NX_Q13207
    UniProt: Q13207

  • Chr Location
    17q23.2; chr17:61399843-61409466 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with human TBX2 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    20 phenotypes from 4 alleles in 6 genetic backgrounds
    6 phenotypes from multigenic genotypes
    1 images
    44 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 display embryonic lethality with abnormal cardiac and vascular development, edema, and polydactyly.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    87
  • GO References
    24
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
    1387
  • Tissues
    381
  • cDNA Data
    59
  • Literature Summary
    154
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 21385 NCBI Gene Model | MGI Sequence Detail 9334 C57BL/6J ±  kb
    transcript NM_009324 RefSeq | MGI Sequence Detail 3562 ZRU/MplStud  
    polypeptide Q60707 UniProt | EBI | MGI Sequence Detail 711 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000016148 T-box transcription factor TBX2
      (term hierarchy)
    • InterPro Domains
      IPR008967 p53-like transcription factor, DNA-binding domain superfamily
      IPR036960 T-box superfamily
      IPR001699 T-box transcription factor
      IPR048387 T-box transcription factor 2/3, repressor domain
      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 86
      Genomic 4
      cDNA 60
      Primer pair 4
      Other 18

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-14731
    References
    more
    • Summaries
      All 223
      Developmental Gene Expression 154
      Gene Ontology 24
      Phenotypes 44
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:351380 Bi Z, et al., Revisiting the Potency of Tbx2 Expression in Transforming Outer Hair Cells into Inner Hair Cells at Multiple Ages In Vivo. J Neurosci. 2024 Jun 5;44(23)
    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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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory