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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
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:87702800-87731260 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 47.06 cM, cytoband E3.2
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    172 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1923615
protein coding gene Chr9:87702800-87731260 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035105
protein coding gene Chr9:88559434-88587811 (-)
A/J MGP_AJ_G0035086
protein coding gene Chr9:85463925-85492370 (-)
AKR/J MGP_AKRJ_G0035014
protein coding gene Chr9:87477631-87506049 (-)
BALB/cJ MGP_BALBcJ_G0035074
protein coding gene Chr9:85097535-85125994 (-)
C3H/HeJ MGP_C3HHeJ_G0034786
protein coding gene Chr9:87959748-87988219 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035598
protein coding gene Chr9:90976470-91007477 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032505
protein coding gene Chr9:84197832-84225580 (-)
CAST/EiJ MGP_CASTEiJ_G0034104
protein coding gene Chr9:88412569-88445748 (-)
CBA/J MGP_CBAJ_G0034759
protein coding gene Chr9:94155810-94184304 (-)
DBA/2J MGP_DBA2J_G0034917
protein coding gene Chr9:84995689-85026603 (-)
FVB/NJ MGP_FVBNJ_G0034860
protein coding gene Chr9:84075202-84103625 (-)
LP/J MGP_LPJ_G0034998
protein coding gene Chr9:88799128-88828309 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034902
protein coding gene Chr9:95797580-95829072 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035618
protein coding gene Chr9:87613845-87642249 (-)
PWK/PhJ MGP_PWKPhJ_G0033808
protein coding gene Chr9:85160503-85193342 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033644
protein coding gene Chr9:87776049-87805517 (-)
WSB/EiJ MGP_WSBEiJ_G0034221
protein coding gene Chr9:87640330-87669691 (-)



Homology
more
  • Human Ortholog
    TBX18, T-box transcription factor 18
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TBX18, T-box transcription factor 18
    Orthology source: HomoloGene, HGNC
  • 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
    64 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 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
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
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 76365 NCBI Gene Model | MGI Sequence Detail 28461 C57BL/6J ±  kb
    transcript NM_023814 RefSeq | MGI Sequence Detail 4679 C57BL/6  
    polypeptide Q9EPZ6 UniProt | EBI | MGI Sequence Detail 613 Not Applicable  
    For the selected sequence
    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 33
      cDNA 15
      Primer pair 4
      Other 14

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1919427
    References
    more
    • Summaries
      All 199
      Developmental Gene Expression 143
      Gene Ontology 11
      Phenotypes 64
    • 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:272577 Mok KW, et al., Dermal Condensate Niche Fate Specification Occurs Prior to Formation and Is Placode Progenitor Dependent. Dev Cell. 2019 Jan 7;48(1):32-48.e5

    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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    last database update
    09/10/2019
    MGI 6.14
    The Jackson Laboratory