Tbx20 T-box 20 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tbx20provided by MGI
Official Full Name: T-box 20provided by MGI
Primary source: MGI:MGI:1888496
See related: Ensembl:ENSMUSG00000031965 AllianceGenome:MGI:1888496
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: Tbx12; 9430010M06Rik
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in several processes, including heart development; mesenchymal cell development; and regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including circulatory system development; negative regulation of SMAD protein signal transduction; and regulation of DNA-templated transcription. Located in cytoplasm and nucleus. Is expressed in several structures, including early conceptus; genitourinary system; heart; hindbrain; and sensory organ. Used to study dilated cardiomyopathy. Human ortholog(s) of this gene implicated in atrial heart septal defect; atrial heart septal defect 4; congenital heart disease; tetralogy of Fallot; and ventricular septal defect. Orthologous to human TBX20 (T-box transcription factor 20). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Biased expression in heart adult (RPKM 15.3), bladder adult (RPKM 5.7) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 A4; 9 10.25 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (24632108..24685580, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (24720812..24774303, 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 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 Tbx20-TLE interaction is essential for the maintenance of the second heart field.
Title: The Tbx20-TLE interaction is essential for the maintenance of the second heart field.
Expression of Hey2 transcription factor in the early embryonic ventricles is controlled through a distal enhancer by Tbx20 and Gata transcription factors.
Title: Expression of Hey2 transcription factor in the early embryonic ventricles is controlled through a distal enhancer by Tbx20 and Gata transcription factors.
Myocardial TBX20 directly regulates a subset of genes required for fetal cardiomyocyte proliferation, including those required for the G1-S transition.
Title: Tbx20 Is Required in Mid-Gestation Cardiomyocytes and Plays a Central Role in Atrial Development.
TBX20 is a novel transcription factor regulating angiogenesis through the PROK2-PROKR1 (prokineticin receptor 1) pathway in both development and disease.
Title: TBX20 Regulates Angiogenesis Through the Prokineticin 2-Prokineticin Receptor 1 Pathway.
Collectively, our proteomic, biochemical, genetic, and structural studies suggest that the physical interaction between TBX20 and CASZ1 is required for cardiac homeostasis, and further, that reduction or loss of this critical interaction leads to dilated cardiomyopathy (DCM)
Title: Formation of a TBX20-CASZ1 protein complex is protective against dilated cardiomyopathy and critical for cardiac homeostasis.
chromatin analysis reveals that endocardial TBX20 has roles in septation
Title: Probing chromatin landscape reveals roles of endocardial TBX20 in septation.
Tbx18 does not function redundantly with Tbx2 or Tbx20 in epicardial development.
Title: Lack of Genetic Interaction between Tbx18 and Tbx2/Tbx20 in Mouse Epicardial Development.
Cardiomyocyte Tbx20 induced overexpression activates multiple cardiac proliferative pathways, directly represses cell-cycle inhibitory genes p21, Meis1, and Btg2, promotes adult CM proliferation; and preserves cardiac performance after MI.
Title: Overexpression of Tbx20 in Adult Cardiomyocytes Promotes Proliferation and Improves Cardiac Function After Myocardial Infarction.
TLE1/TLE3-NuRD corepressor complex facilitates Tbx20-dependent transcriptional repression.
Title: A Gro/TLE-NuRD corepressor complex facilitates Tbx20-dependent transcriptional repression.
The effects of Tbx20 are epistatic to Tbx3 in the heart, but Tbx3 is epistatic to Tbx20 with respect to developmental delay.
Title: Lack of genetic interaction between Tbx20 and Tbx3 in early mouse heart development.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Variation

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Alleles

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

Endonuclease-mediated (7) 1 citation
Targeted (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH126399 (e-PCR)
- UniSTS:163107

NoName (e-PCR)
- UniSTS:548394

NoName (e-PCR)
- UniSTS:236080

Tbx20 (e-PCR), detects polymorphism
- UniSTS:474761

RH125367 (e-PCR)
- UniSTS:162189

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology 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 transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
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 sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in aortic valve development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in aortic valve morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in aortic valve morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in atrial septum morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in atrial septum morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in atrioventricular canal development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in atrioventricular valve development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blood circulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within branching involved in blood vessel morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac chamber formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac chamber formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle tissue morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac right ventricle morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac septum development	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 cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dorsal/ventral pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic heart tube development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within embryonic heart tube development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic heart tube elongation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic heart tube morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endocardial cushion formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endocardial cushion morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in foramen ovale closure	IEA Inferred from Electronic Annotation more info
involved_in foramen ovale closure	ISO Inferred from Sequence Orthology more info
involved_in heart looping	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within heart looping	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart looping	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mesenchymal cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within motor neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of SMAD protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in outflow tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in outflow tract septum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in outflow tract septum morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in pericardium morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of positive regulation of BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cardiac muscle cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell cycle process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell cycle process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of epithelial to mesenchymal transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in pulmonary valve formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pulmonary vein morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in pulmonary vein morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in regulation of epithelial to mesenchymal transition	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in tricuspid valve development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vasculogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in visceral motor neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in chromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	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 TBX20

Names: T-box protein 20

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_001205085.2 → NP_001192014.1 T-box transcription factor TBX20 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs at the 3' end compared to variant 1. This results in a frame-shift, and a shorter isoform (c) with a distinct C-terminus compared to isoform a.

Source sequence(s)

CT025664

UniProtKB/Swiss-Prot

Q9ES03

Conserved Domains (1) summary

cd00182
Location:98 → 290

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 ...
NM_020496.4 → NP_065242.1 T-box transcription factor TBX20 isoform b

See identical proteins and their annotated locations for NP_065242.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs at the 3' end compared to variant 1. This results in a frame-shift, and a shorter isoform (b) with a distinct C-terminus compared to isoform a.

Source sequence(s)

CT025664

Consensus CDS

CCDS52744.1

UniProtKB/Swiss-Prot

Q9ES03

Related

ENSMUSP00000126318.3, ENSMUST00000166018.4

Conserved Domains (1) summary

cd00182
Location:98 → 290

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 ...
NM_194263.3 → NP_919239.1 T-box transcription factor TBX20 isoform a

See identical proteins and their annotated locations for NP_919239.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

CT025664

Consensus CDS

CCDS22933.1

UniProtKB/Swiss-Prot

Q9EPZ5, Q9ES03, Q9ESX1

Related

ENSMUSP00000052591.5, ENSMUST00000052946.12

Conserved Domains (1) summary

cd00182
Location:98 → 290

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 ...