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Tbx18 Gene Detail
Summary
  • Symbol
    Tbx18
  • Name
    T-box18
  • Synonyms
    2810012F10Rik, 2810404D13Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1923615
    NCBI Gene: 76365
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr9:87702800-87731260 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      28461 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 47.06 cM, cytoband E3.2
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    TBX18, T-box 18
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TBX18, T-box 18
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CAKUT2
  • Links
    NCBI Gene ID: 9096
    neXtProt AC: NX_O95935
    UniProt: O95935

  • Chr Location
    6q14.3; chr6:84666834-84764236 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 11384
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: TBX18
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human TBX18 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    47 phenotypes from 11 alleles in 6 genetic backgrounds
    9 phenotypes from multigenic genotypes
    60 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 fail to maintain anterior-posterior polarity of the lateral sclerotome and display neonatal lethality and abnormal vertebral, rib and spinal nerve morphology. Mice homozygous for another targeted allele exhibit neonatal lethality, abnormal skeleton and abnormal coronary vessels.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000045141 VEGA Gene Model | MGI Sequence Detail 28461 C57BL/6J ±  kb
    transcript OTTMUST00000118625 VEGA | MGI Sequence Detail 4679 Not Applicable  
    polypeptide OTTMUSP00000066209 VEGA | MGI Sequence Detail 613 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      172 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • InterPro Domains
      IPR008967 p53-like transcription factor, DNA-binding
      IPR036960 T-box superfamily
      IPR001699 Transcription factor, T-box
      IPR018186 Transcription factor, T-box, conserved site
    Molecular
    Reagents
    less
    • All nucleic 29
      cDNA 14
      Primer pair 4
      Other 11

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1919427
    References
    more
    • Summaries
      All 192
      Developmental Gene Expression 139
      Gene Ontology 10
      Phenotypes 60
    • Earliest
      J:63760 Beckers J, et al., Distinct regulatory elements direct delta1 expression in the nervous system and paraxial mesoderm of transgenic mice. Mech Dev. 2000 Jul;95(1-2):23-34
    • Latest
      J:263887 Yan J, et al., Smad4 deficiency impairs chondrocyte hypertrophy via the Runx2 transcription factor in mouse skeletal development. J Biol Chem. 2018 Jun 15;293(24):9162-9175

    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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    last database update
    09/11/2018
    MGI 6.12
    The Jackson Laboratory