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Tbx20 Gene Detail
Summary
  • Symbol
    Tbx20
  • Name
    T-box 20
  • Synonyms
    9430010M06Rik, Tbx12
  • Feature Type
    protein coding gene
  • IDs
    MGI:1888496
    NCBI Gene: 57246
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:24632108-24685580 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 10.25 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1752 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1888496
 protein coding gene Chr9:24629434-24685599 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034495
 protein coding gene Chr9:22107451-22163716 (-)
A/J MGP_AJ_G0034473
 protein coding gene Chr9:21645221-21699805 (-)
AKR/J MGP_AKRJ_G0034399
 protein coding gene Chr9:22056441-22112297 (-)
BALB/cJ MGP_BALBcJ_G0034464
 protein coding gene Chr9:21551259-21604960 (-)
C3H/HeJ MGP_C3HHeJ_G0034176
 protein coding gene Chr9:22386594-22440973 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034985
 protein coding gene Chr9:22969981-23023671 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031915
 protein coding gene Chr9:20603237-20657190 (-)
CAST/EiJ MGP_CASTEiJ_G0033498
 protein coding gene Chr9:22247034-22303483 (-)
CBA/J MGP_CBAJ_G0034149
 protein coding gene Chr9:23777011-23830711 (-)
DBA/2J MGP_DBA2J_G0034307
 protein coding gene Chr9:21623178-21676971 (-)
FVB/NJ MGP_FVBNJ_G0034250
 protein coding gene Chr9:21115863-21173045 (-)
LP/J MGP_LPJ_G0034393
 protein coding gene Chr9:22290934-22345699 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034293
 protein coding gene Chr9:25396984-25457334 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035005
 protein coding gene Chr9:22039946-22097119 (-)
PWK/PhJ MGP_PWKPhJ_G0033204
 protein coding gene Chr9:21576656-21630453 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033038
 protein coding gene Chr9:22086943-22141733 (-)
WSB/EiJ MGP_WSBEiJ_G0033614
 protein coding gene Chr9:21767517-21822381 (-)



Homology
more
  • Human Ortholog
    TBX20, T-box transcription factor 20
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TBX20, T-box transcription factor 20
  • Synonyms
    ASD4
  • Links
    NCBI Gene ID: 57057
    neXtProt AC: NX_Q9UMR3
    UniProt: Q9UMR3

  • Chr Location
    7p14.2; chr7:35202430-35254100 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Tbx20 mouse models; 5 with human TBX20 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
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
    48 phenotypes from 7 alleles in 7 genetic backgrounds
    12 phenotypes from multigenic genotypes
    31 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, impaired cardiac looping, a small hourglass shaped heart, and decreased cardiomyocyte proliferation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    79
  • GO References
    15
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
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
    1080
  • Tissues
    178
  • cDNA Data
    23
  • Literature Summary
    115
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 57246 NCBI Gene Model | MGI Sequence Detail 53473 C57BL/6J ±  kb
    transcript NM_194263 RefSeq | MGI Sequence Detail 6417 C57BL/6  
    polypeptide Q9ES03 UniProt | EBI | MGI Sequence Detail 445 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000016149 T-box transcription factor TBX20
      (term hierarchy)
    • InterPro Domains
      IPR008967 p53-like transcription factor, DNA-binding domain superfamily
      IPR036960 T-box superfamily
      IPR001699 T-box transcription factor
      IPR046360 T-box transcription factor, DNA-binding domain
      IPR018186 Transcription factor, T-box, conserved site
    • GlyGen
      Q9ES03 3 sites, 1 O-linked glycan (3 sites)
    Molecular
    Reagents
    less
    • All nucleic 39
      cDNA 23
      Primer pair 10
      Other 6

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1924493, MGI:2143174
    References
    more
    • Summaries
      All 168
      Developmental Gene Expression 115
      Diseases 1
      Gene Ontology 15
      Phenotypes 31
    • Earliest
      J:63825 Meins M, et al., Characterization of the human TBX20 gene, a new member of the T-Box gene family closely related to the Drosophila H15 gene. Genomics. 2000 Aug 1;67(3):317-32
    • Latest
      J:347414 Yang J, et al., A BMP-controlled metabolic/epigenetic signaling cascade directs midfacial morphogenesis. J Clin Invest. 2024 Mar 11;134(8)
    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
    10/29/2024
    MGI 6.24     		The Jackson Laboratory