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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
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:87584853-87613313 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 47.06 cM, cytoband E3.2
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    836 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 Chr9:87584853-87613313 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TBX18, T-box transcription factor 18
  • Synonyms
    CAKUT2, PUJO
  • Links
    NCBI Gene ID: 9096
    neXtProt AC: NX_O95935
    UniProt: O95935

  • Chr Location
    6q14.3; chr6:84687351-84764598 (-)  GRCh38
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.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    49 phenotypes from 11 alleles in 6 genetic backgrounds
    9 phenotypes from multigenic genotypes
    629 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 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
less
  • All GO Annotations
    51
  • GO References
    10
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
    1163
  • Tissues
    204
  • cDNA Data
    16
  • Literature Summary
    182
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 ZRU/MplStud  
    polypeptide Q9EPZ6 UniProt | EBI | MGI Sequence Detail 613 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 46
      cDNA 16
      Primer pair 5
      Other 25

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1919427
    References
    more
    • Summaries
      All 798
      Developmental Gene Expression 182
      Diseases 1
      Gene Ontology 10
      Phenotypes 629
    • 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:359111 Bai X, et al., GRAF1 deficiency leads to defective brown adipose tissue differentiation and thermogenic response. Sci Rep. 2024 Nov 20;14(1):28692
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory