Tbx18 T-box18 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tbx18provided by MGI
Official Full Name: T-box18provided by MGI
Primary source: MGI:MGI:1923615
See related: Ensembl:ENSMUSG00000032419 AllianceGenome:MGI:1923615
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 2810012F10Rik; 2810404D13Rik
Summary: Enables several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and protein homodimerization activity. Involved in negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation and negative regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including animal organ development; anterior/posterior pattern specification; and positive regulation of cell population proliferation. Located in nucleus. Part of RNA polymerase II transcription repressor complex. Is expressed in several structures, including body cavity or lining; cardiovascular system; embryo mesenchyme; genitourinary system; and inner ear. Human ortholog(s) of this gene implicated in CAKUT2. Orthologous to human TBX18 (T-box transcription factor 18). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in limb E14.5 (RPKM 12.1), CNS E11.5 (RPKM 4.4) and 7 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 E3.1; 9 47.06 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (87584853..87613313, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (87702800..87731260, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TBX18 knockdown sensitizes esophageal squamous cell carcinoma to radiotherapy by blocking the CHN1/RhoA axis.
Title: TBX18 knockdown sensitizes esophageal squamous cell carcinoma to radiotherapy by blocking the CHN1/RhoA axis.
Permissive ureter specification by TBX18-mediated repression of metanephric gene expression.
Title: Permissive ureter specification by TBX18-mediated repression of metanephric gene expression.
Tbx18-positive cells-derived myofibroblasts contribute to renal interstitial fibrosis via transforming growth factor-beta signaling.
Title: Tbx18-positive cells-derived myofibroblasts contribute to renal interstitial fibrosis via transforming growth factor-β signaling.
Characterization of the adiponectin promoter + Cre recombinase insertion in the Tg(Adipoq-cre)1Evdr mouse by targeted locus amplification and droplet digital PCR.
Title: Characterization of the adiponectin promoter + Cre recombinase insertion in the Tg(Adipoq-cre)1Evdr mouse by targeted locus amplification and droplet digital PCR.
Data indicate an extended landscape of promoter-contacting regions throughout a 1.5-2 million base pair domain surrounding the T-box protein 18 (Tbx18) gene.
Title: An extended regulatory landscape drives Tbx18 activity in a variety of prostate-associated cell lineages.
Tbx18, Ripply2, and Hes7 repress the activation of the Hes7 essential region by the aforementioned transcription factors.
Title: Presomitic mesoderm-specific expression of the transcriptional repressor Hes7 is controlled by E-box, T-box, and Notch signaling pathways.
Study identified and characterized new TBX18 binding partners that may influence the transcriptional activity of TBX18 in vivo. Proteomic screen strongly supports an exclusive nuclear function of TBX18 as a repressor of chromatin accessibility.
Title: Proteomic analysis identifies transcriptional cofactors and homeobox transcription factors as TBX18 binding proteins.
TBX18 gene transduction may facilitate the differentiation of brown adipose-derived stem cell and white adipose-derived stem cellinto pacemakerlike myocardial cells, and brown adipose-derived stem cell may have a higher capacity than white adipose-derived stem cell for this differentiation.
Title: Comparison of mouse brown and white adipose‑derived stem cell differentiation into pacemaker‑like cells induced by TBX18 transduction.
The expression of Tbx3 and shox2, the other two important transcription factors in the development of pacemaker cells, was decreased by silencing Tbx18, which suggests that Tbx18 mediates the differentiation of BATSCs into a pacemaker phenotype via these two downstream transcription factors.
Title: Tbx18-dependent differentiation of brown adipose tissue-derived stem cells toward cardiac pacemaker cells.
hypoxia intervention was sufficient to induce the differentiation of Tbx18-positive epicardial cells to coronary vascular smooth muscle cells.
Title: Hypoxia induced the differentiation of Tbx18-positive epicardial cells to CoSMCs.

Submit: New GeneRIF Correction See all GeneRIFs (33)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (15) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BB368146 (e-PCR)
- UniSTS:208425

Tbx18 (e-PCR), detects polymorphism
- UniSTS:526946

Tbx18 (e-PCR), detects polymorphism
- UniSTS:474760

NoName (e-PCR)
- UniSTS:236213

NoName (e-PCR)
- UniSTS:236214

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within anatomical structure formation involved in morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within anterior/posterior axis specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell fate specification	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cochlea morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of mesenchymal cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of mesenchymal cell proliferation involved in ureter development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in morphogenesis of embryonic epithelium	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within morphogenesis of embryonic epithelium	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
acts_upstream_of myoblast proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neural plate anterior/posterior regionalization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of mesenchymal cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of mesenchymal cell proliferation involved in ureter development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of myoblast proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of stem cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
acts_upstream_of regulation of SA node cell action potential	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sinoatrial node cell development	ISO Inferred from Sequence Orthology more info
involved_in sinoatrial node cell fate commitment	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sinoatrial node development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within smooth muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in somitogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within somitogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within stem cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of stem cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ureter development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in ureter development	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of RNA polymerase II transcription repressor complex	IDA Inferred from Direct Assay more info	PubMed
part_of chromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: T-box transcription factor TBX18

Names: T-box protein 18

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_023814.4 → NP_076303.3 T-box transcription factor TBX18

See identical proteins and their annotated locations for NP_076303.3

Status: VALIDATED

Source sequence(s)

AC131681, AF306666, AK012980, AK032660

Consensus CDS

CCDS40718.1

UniProtKB/Swiss-Prot

Q9EPZ6

UniProtKB/TrEMBL

G3X919

Related

ENSMUSP00000034991.8, ENSMUST00000034991.8

Conserved Domains (1) summary

cd00182
Location:145 → 340

TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...