Tbx5 T-box 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tbx5provided by MGI
Official Full Name: T-box 5provided by MGI
Primary source: MGI:MGI:102541
See related: Ensembl:ENSMUSG00000018263 AllianceGenome:MGI:102541
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
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in heart development; positive regulation of gap junction assembly; and positive regulation of transcription by RNA polymerase II. Acts upstream of with a positive effect on bundle of His cell to Purkinje myocyte communication by electrical coupling; cell-cell signaling; and regulation of atrial cardiac muscle cell membrane depolarization. Acts upstream of or within several processes, including embryonic forelimb morphogenesis; heart development; and positive regulation of cell population proliferation. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including embryo mesenchyme; eye; genitourinary system; heart; and vena cava. Used to study Holt-Oram syndrome. Human ortholog(s) of this gene implicated in Holt-Oram syndrome. Orthologous to human TBX5 (T-box transcription factor 5). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in limb E14.5 (RPKM 8.8), lung adult (RPKM 8.1) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 F; 5 60.42 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (119934581..120023285)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (119796514..119885220)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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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?

An atrial fibrillation-associated regulatory region modulates cardiac Tbx5 levels and arrhythmia susceptibility.
Title: An atrial fibrillation-associated regulatory region modulates cardiac Tbx5 levels and arrhythmia susceptibility.
The transcription factor Tbx5 regulates direction-selective retinal ganglion cell development and image stabilization.
Title: The transcription factor Tbx5 regulates direction-selective retinal ganglion cell development and image stabilization.
Tbx5 variants disrupt Nav1.5 function differently in patients diagnosed with Brugada or Long QT Syndrome.
Title: Tbx5 variants disrupt Nav1.5 function differently in patients diagnosed with Brugada or Long QT Syndrome.
Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction.
Title: Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction.
Overexpression of Gata4, Mef2c, and Tbx5 Generates Induced Cardiomyocytes Via Direct Reprogramming and Rare Fusion in the Heart.
Title: Overexpression of Gata4, Mef2c, and Tbx5 Generates Induced Cardiomyocytes Via Direct Reprogramming and Rare Fusion in the Heart.
Cholecystokinin peptide signaling is regulated by a TBX5-MEF2 axis in the heart.
Title: Cholecystokinin peptide signaling is regulated by a TBX5-MEF2 axis in the heart.
Tbx5 inhibits hedgehog signaling in determination of digit identity.
Title: Tbx5 inhibits hedgehog signaling in determination of digit identity.
Direct Cardiac Reprogramming for Cardiovascular Regeneration and Differentiation.
Title: Direct Cardiac Reprogramming for Cardiovascular Regeneration and Differentiation.
Transcriptional Patterning of the Ventricular Cardiac Conduction System.
Title: Transcriptional Patterning of the Ventricular Cardiac Conduction System.
Stoichiometric optimization of Gata4, Hand2, Mef2c, and Tbx5 expression for contractile cardiomyocyte reprogramming.
Title: Stoichiometric optimization of Gata4, Hand2, Mef2c, and Tbx5 expression for contractile cardiomyocyte reprogramming.

Submit: New GeneRIF Correction See all GeneRIFs (65)

Variation

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Alleles

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

Endonuclease-mediated (4) 1 citation
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5Mit424 (e-PCR), detects polymorphism
- UniSTS:130574

D5Mit425 (e-PCR), detects polymorphism
- UniSTS:130575

Tbx5 (e-PCR), detects polymorphism
- UniSTS:265754

Tbx5 (e-PCR), detects polymorphism
- UniSTS:528216

Tbx5 (e-PCR), detects polymorphism
- UniSTS:498334

Tbx5 (e-PCR), detects polymorphism
- UniSTS:498335

D5Mit367 (e-PCR), detects polymorphism
- UniSTS:130521

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA binding	ISS Inferred from Sequence or Structural Similarity more info
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	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity 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 factor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity 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 cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in animal organ development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within atrial septum development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within atrial septum morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in atrioventricular bundle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in atrioventricular node cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in atrioventricular node cell fate commitment	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within atrioventricular valve morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_positive_effect bundle of His cell to Purkinje myocyte communication by electrical coupling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within bundle of His development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in bundle of His development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac left ventricle formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cardiac left ventricle formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac muscle cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cardiac muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of cardiac muscle cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cell fate specification	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_positive_effect cell-cell signaling	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cell-cell signaling	ISO Inferred from Sequence Orthology more info
involved_in cell-cell signaling	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within embryonic forelimb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic forelimb morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in embryonic forelimb morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within embryonic limb morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within embryonic limb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic limb morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in embryonic limb morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within endocardial cushion development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within forelimb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within forelimb morphogenesis	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart development	ISO Inferred from Sequence Orthology more info	PubMed
involved_in heart development	ISO Inferred from Sequence Orthology more info
involved_in heart development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within lung development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within morphogenesis of an epithelium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cardiac muscle cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cardiac muscle cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell migration	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in pattern specification process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within pattern specification process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pericardium development	ISO Inferred from Sequence Orthology more info
involved_in pericardium development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of positive regulation of cardiac conduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of cardiac muscle cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of cardioblast differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cardioblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gap junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of secondary heart field cardioblast proliferation	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
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_positive_effect regulation of atrial cardiac muscle cell membrane depolarization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in sinoatrial node development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in transdifferentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within ventricular cardiac muscle tissue development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in ventricular septum development	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	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
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
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
part_of protein-DNA complex	ISO Inferred from Sequence Orthology more info
part_of protein-DNA complex	ISS Inferred from Sequence or Structural Similarity more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISS Inferred from Sequence or Structural Similarity more info
part_of transcription regulator complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: T-box transcription factor TBX5

Names: T-box protein 5

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_011537.3 → NP_035667.1 T-box transcription factor TBX5

See identical proteins and their annotated locations for NP_035667.1

Status: VALIDATED

Source sequence(s)

AI413447, BC090639, BX529547

Consensus CDS

CCDS19615.1

UniProtKB/Swiss-Prot

P70326, Q9R003

UniProtKB/TrEMBL

Q5CZX7

Related

ENSMUSP00000018407.7, ENSMUST00000018407.10

Conserved Domains (1) summary

cd00182
Location:53 → 241

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 ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

119934581..120023285

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006530283.3 → XP_006530346.1 T-box transcription factor TBX5 isoform X2

See identical proteins and their annotated locations for XP_006530346.1

UniProtKB/Swiss-Prot

P70326, Q9R003

UniProtKB/TrEMBL

Q5CZX7

Conserved Domains (1) summary

cd00182
Location:53 → 241

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 ...
XM_006530282.5 → XP_006530345.1 T-box transcription factor TBX5 isoform X2

See identical proteins and their annotated locations for XP_006530345.1

UniProtKB/Swiss-Prot

P70326, Q9R003

UniProtKB/TrEMBL

Q5CZX7

Conserved Domains (1) summary

cd00182
Location:53 → 241

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 ...
XM_006530281.3 → XP_006530344.1 T-box transcription factor TBX5 isoform X2

See identical proteins and their annotated locations for XP_006530344.1

UniProtKB/Swiss-Prot

P70326, Q9R003

UniProtKB/TrEMBL

Q5CZX7

Conserved Domains (1) summary

cd00182
Location:53 → 241

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 ...
XM_006530280.1 → XP_006530343.1 T-box transcription factor TBX5 isoform X2

See identical proteins and their annotated locations for XP_006530343.1

UniProtKB/Swiss-Prot

P70326, Q9R003

UniProtKB/TrEMBL

Q5CZX7

Conserved Domains (1) summary

cd00182
Location:53 → 241

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 ...
XM_006530279.5 → XP_006530342.1 T-box transcription factor TBX5 isoform X1

Conserved Domains (1) summary

cd00182
Location:72 → 260

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 ...
XM_011248191.4 → XP_011246493.1 T-box transcription factor TBX5 isoform X2

See identical proteins and their annotated locations for XP_011246493.1

UniProtKB/Swiss-Prot

P70326, Q9R003

UniProtKB/TrEMBL

Q5CZX7

Conserved Domains (1) summary

cd00182
Location:53 → 241

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 ...