Tbx6 T-box 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tbx6provided by MGI
Official Full Name: T-box 6provided by MGI
Primary source: MGI:MGI:102539
See related: Ensembl:ENSMUSG00000030699 AllianceGenome:MGI:102539
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: rv
Summary: Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in negative regulation of DNA-binding transcription factor activity and negative regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including negative regulation of neuron maturation; regulation of gene expression; and somite rostral/caudal axis specification. Located in chromatin and nucleus. Is expressed in several structures, including 4-cell stage embryo; embryo ectoderm; embryo mesenchyme; genitourinary system; and primitive streak. Used to study spondylocostal dysostosis. Human ortholog(s) of this gene implicated in spondylocostal dysostosis. Orthologous to human TBX6 (T-box transcription factor 6). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in thymus adult (RPKM 12.1), spleen adult (RPKM 9.0) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 F3; 7 69.25 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (126380655..126384720)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (126781483..126785548)

Chromosome 7 - NC_000073.7 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?

The nephric mesenchyme lineage of intermediate mesoderm is derived from Tbx6-expressing derivatives of neuro-mesodermal progenitors via BMP-dependent Osr1 function.
Title: The nephric mesenchyme lineage of intermediate mesoderm is derived from Tbx6-expressing derivatives of neuro-mesodermal progenitors via BMP-dependent Osr1 function.
Functionally distinct roles for T and Tbx6 during mouse development.
Title: Functionally distinct roles for T and Tbx6 during mouse development.
Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice.
Title: Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice.
Tbx6 promotes cardiomyocyte proliferation in postnatal and adult mouse hearts by modifying the expression of cell cycle regulators.
Title: Tbx6 induces cardiomyocyte proliferation in postnatal and adult mouse hearts.
The prolonged Tbx6 expression suppressed cardiac differentiation and induced somite lineages, including skeletal muscle and chondrocytes. Thus, Tbx6 is critical for mesoderm induction and subsequent lineage diversification.
Title: Tbx6 Induces Nascent Mesoderm from Pluripotent Stem Cells and Temporally Controls Cardiac versus Somite Lineage Diversification.
our findings in the newly collected human Congenital vertebral malformations (CVMs) subjects and Tbx6 mouse models consistently support the contention that TBX6 compound inheritance causes CVMs, potentially via a gene dosage-dependent mechanism.
Title: TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice.
In Tbx6 null mutant embryos intermediate mesoderm formation is severely compromised.
Title: Impaired intermediate formation in mouse embryos expressing reduced levels of Tbx6.
The authors succeeded in reproducing in vivo events using a mouse embryonic stem cell induction system, in which Tbx6 degradation occurred via Ripply2.
Title: Ripply2 recruits proteasome complex for Tbx6 degradation to define segment border during murine somitogenesis.
Hes7 expression in the presomitic mesoderm was up-regulated through the E-box, T-box, and RBPj-binding element in the Hes7 essential region, presumably through synergistic signaling involving mesogenin1, T-box6 (Tbx6), and Notch1.
Title: Presomitic mesoderm-specific expression of the transcriptional repressor Hes7 is controlled by E-box, T-box, and Notch signaling pathways.
This study emphasizes the function of Tbx6 as a bistable switch that turns mesoderm fate 'on' and progenitor state 'off', and thus has implications for the molecular mechanism driving neuromesoderm progenitors fate choice.
Title: Co-expression of Tbx6 and Sox2 identifies a novel transient neuromesoderm progenitor cell state.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Variation

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Alleles

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

Spontaneous (1) 1 citation
Targeted (5) 1 citation
Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Tbx6 (e-PCR), detects polymorphism
- UniSTS:464795

NoName (e-PCR)
- UniSTS:495290

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 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 sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cell fate specification	IBA Inferred from Biological aspect of Ancestor more info
involved_in heart looping	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within mesoderm formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mesodermal cell fate specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of neuron maturation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of neuron projection development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay 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 transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation 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 signal transduction involved in regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within somite rostral/caudal axis specification	IDA Inferred from Direct Assay more info	PubMed
involved_in vasculogenesis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of chromatin	IBA Inferred from Biological aspect of Ancestor more info
part_of chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement 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

General protein information

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Preferred Names: T-box transcription factor TBX6

Names: T-box protein 6; rib-vertebrae

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_011538.2 → NP_035668.2 T-box transcription factor TBX6

See identical proteins and their annotated locations for NP_035668.2

Status: VALIDATED

Source sequence(s)

AI152111, AW047428, BF607954, U57331

Consensus CDS

CCDS21843.1

UniProtKB/Swiss-Prot

B2RU37, P70327, Q5SDA2

Related

ENSMUSP00000091579.5, ENSMUST00000094037.5

Conserved Domains (1) summary

cd00182
Location:90 → 277

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 ...