Tbx3 T-box 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tbx3provided by MGI
Official Full Name: T-box 3provided by MGI
Primary source: MGI:MGI:98495
See related: Ensembl:ENSMUSG00000018604 AllianceGenome:MGI:98495
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: D5Ertd189e
Summary: Enables DNA-binding transcription factor activity; 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 atrioventricular canal morphogenesis; embryonic morphogenesis; and regulation of protein complex stability. Acts upstream of or within several processes, including circulatory system development; mammary gland morphogenesis; and regulation of DNA-templated transcription. Located in nucleus. Part of transcription regulator complex. Is active in cilium. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; limb; and sensory organ. Used to study ulnar-mammary syndrome. Human ortholog(s) of this gene implicated in ulnar-mammary syndrome. Orthologous to human TBX3 (T-box transcription factor 3). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in adrenal adult (RPKM 118.3), small intestine adult (RPKM 47.5) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 F; 5 60.34 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (119808600..119822789)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (119670534..119684724)

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:

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?

Proteostatic reactivation of the developmental transcription factor TBX3 drives BRAF/MAPK-mediated tumorigenesis.
Title: Proteostatic reactivation of the developmental transcription factor TBX3 drives BRAF/MAPK-mediated tumorigenesis.
Overexpression of TBX3 suppresses tumorigenesis in experimental and human cholangiocarcinoma.
Title: Overexpression of TBX3 suppresses tumorigenesis in experimental and human cholangiocarcinoma.
TBX3 is essential for establishment of the posterior boundary of anterior genes and upregulation of posterior genes together with HAND2 during the onset of limb bud development.
Title: TBX3 is essential for establishment of the posterior boundary of anterior genes and upregulation of posterior genes together with HAND2 during the onset of limb bud development.
Abnormal activation of the Wnt3a/beta-catenin signaling pathway promotes the expression of T-box transcription factor 3(TBX3) and the epithelial-mesenchymal transition pathway to mediate the occurrence of adenomyosis.
Title: Abnormal activation of the Wnt3a/β-catenin signaling pathway promotes the expression of T-box transcription factor 3(TBX3) and the epithelial-mesenchymal transition pathway to mediate the occurrence of adenomyosis.
Suppressed Cellular Senescence Mediated by T-box3 in Aged Gastric Epithelial Cells may Contribute to Aging-related Carcinogenesis.
Title: Suppressed Cellular Senescence Mediated by T-box3 in Aged Gastric Epithelial Cells may Contribute to Aging-related Carcinogenesis.
Loss of Tbx3 in Mouse Eye Causes Retinal Angiogenesis Defects Reminiscent of Human Disease.
Title: Loss of Tbx3 in Mouse Eye Causes Retinal Angiogenesis Defects Reminiscent of Human Disease.
TBX3 is dynamically expressed in pancreatic organogenesis and fine-tunes regeneration.
Title: TBX3 is dynamically expressed in pancreatic organogenesis and fine-tunes regeneration.
Expression of Chrna9 is regulated by Tbx3 in undifferentiated pluripotent stem cells.
Title: Expression of Chrna9 is regulated by Tbx3 in undifferentiated pluripotent stem cells.
Hierarchical deployment of Tbx3 dictates the identity of hypothalamic KNDy neurons to control puberty onset.
Title: Hierarchical deployment of Tbx3 dictates the identity of hypothalamic KNDy neurons to control puberty onset.
Complex functional redundancy of Tbx2 and Tbx3 in mouse limb development.
Title: Complex functional redundancy of Tbx2 and Tbx3 in mouse limb development.

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 (13) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:235919

Tbx3 (e-PCR), detects polymorphism
- UniSTS:498333

Tbx3 (e-PCR), detects polymorphism
- UniSTS:531384

Tbx3 (e-PCR), detects polymorphism
- UniSTS:526029

D5Ertd189e (e-PCR), detects polymorphism
- UniSTS:167421

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay 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 repressor activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription repressor 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 cis-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 DNA binding	ISO Inferred from Sequence Orthology more info
enables sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within animal organ morphogenesis	ISO Inferred from Sequence Orthology more info	PubMed
involved_in anterior/posterior axis specification, embryo	ISO Inferred from Sequence Orthology more info
involved_in anterior/posterior axis specification, embryo	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within atrioventricular bundle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in atrioventricular canal development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in atrioventricular canal morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within blood vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within branching involved in mammary gland duct morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac epithelial to mesenchymal transition	IEA Inferred from Electronic Annotation more info
involved_in cardiac epithelial to mesenchymal transition	ISO Inferred from Sequence Orthology more info
involved_in cardiac jelly development	IEA Inferred from Electronic Annotation more info
involved_in cardiac jelly development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cardiac muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac muscle cell fate commitment	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 cellular senescence	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular senescence	ISO Inferred from Sequence Orthology more info
involved_in cellular senescence	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within embryonic digit morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic digit morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic digit morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in embryonic digit morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
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 heart tube development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic hindlimb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endocardial cushion formation	IEA Inferred from Electronic Annotation more info
involved_in endocardial cushion formation	ISO Inferred from Sequence Orthology more info
involved_in female genitalia development	ISO Inferred from Sequence Orthology more info
involved_in female genitalia development	ISS Inferred from Sequence or Structural Similarity more info
involved_in follicle-stimulating hormone secretion	ISO Inferred from Sequence Orthology more info
involved_in follicle-stimulating hormone secretion	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within forelimb morphogenesis	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within heart looping	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of hepatoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inner ear morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within limb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in limb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within limbic system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in luteinizing hormone secretion	ISO Inferred from Sequence Orthology more info
involved_in luteinizing hormone secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in male genitalia development	ISO Inferred from Sequence Orthology more info
involved_in male genitalia development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within mammary gland development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mammary gland development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within mammary placode formation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within mammary placode formation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in mesoderm morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in mesoderm morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell proliferation involved in heart morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell proliferation involved in heart morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of epithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of myoblast differentiation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of myoblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within negative regulation of stem cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within outflow tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell cycle	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell cycle	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of stem cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein complex stability	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein stability	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within roof of mouth development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in semicircular canal morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sinoatrial node cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sinoatrial node cell development	ISO Inferred from Sequence Orthology more info
involved_in skeletal system development	ISO Inferred from Sequence Orthology more info
involved_in skeletal system development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within smooth muscle cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within specification of animal organ position	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within stem cell population maintenance	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 ureteric peristalsis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within ventricular septum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in chromatin	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cilium	IDA Inferred from Direct Assay more info	PubMed
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 transcription regulator complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: T-box transcription factor TBX3

Names: T-box protein 3

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_011535.3 → NP_035665.2 T-box transcription factor TBX3 isoform 1

See identical proteins and their annotated locations for NP_035665.2

Status: VALIDATED

Description

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

Source sequence(s)

AA543734, AK052453, AK145436, BB054411, BB694449, BB728182, CJ216213

Consensus CDS

CCDS19613.1

UniProtKB/Swiss-Prot

E9QM97, P70324, Q60708, Q8BWH7

UniProtKB/TrEMBL

Q3ULL3

Related

ENSMUSP00000018748.9, ENSMUST00000018748.9

Conserved Domains (2) summary

pfam00907
Location:105 → 305

T-box

pfam12598
Location:323 → 402

TBX; T-box transcription factor
NM_198052.2 → NP_932169.1 T-box transcription factor TBX3 isoform 2

See identical proteins and their annotated locations for NP_932169.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.

Source sequence(s)

AA543734, BB054411, BB694449, BB728182, BC096551, CJ216213

Consensus CDS

CCDS19614.1

UniProtKB/TrEMBL

Q3U043, Q4VA43

Related

ENSMUSP00000112519.2, ENSMUST00000121021.8

Conserved Domains (2) summary

pfam12598
Location:303 → 391

TBX; T-box transcription factor

cd00182
Location:102 → 287

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 ...