Tbx2 T-box 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tbx2provided by MGI
Official Full Name: T-box 2provided by MGI
Primary source: MGI:MGI:98494
See related: Ensembl:ENSMUSG00000000093 AllianceGenome:MGI:98494
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 activity and DNA-binding transcription factor activity. Involved in several processes, including circulatory system development; embryonic morphogenesis; and negative regulation of heart looping. Acts upstream of or within several processes, including animal organ development; muscle cell fate determination; and ureteric peristalsis. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including central nervous system; embryo mesenchyme; genitourinary system; heart; and sensory organ. Human ortholog(s) of this gene implicated in vertebral anomalies and variable endocrine and T-cell dysfunction. Orthologous to human TBX2 (T-box transcription factor 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in lung adult (RPKM 133.6), bladder adult (RPKM 53.9) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 C; 11 51.34 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (85723441..85732774)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (85832615..85841948)

Chromosome 11 - NC_000077.7 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?

TBX2 specifies and maintains inner hair and supporting cell fate in the Organ of Corti.
Title: TBX2 specifies and maintains inner hair and supporting cell fate in the Organ of Corti.
Complex functional redundancy of Tbx2 and Tbx3 in mouse limb development.
Title: Complex functional redundancy of Tbx2 and Tbx3 in mouse limb development.
Tbx2 is a master regulator of inner versus outer hair cell differentiation.
Title: Tbx2 is a master regulator of inner versus outer hair cell differentiation.
Combined genomic and proteomic approaches reveal DNA binding sites and interaction partners of TBX2 in the developing lung.
Title: Combined genomic and proteomic approaches reveal DNA binding sites and interaction partners of TBX2 in the developing lung.
A role of Hey2 transcription factor for right ventricle development through regulation of Tbx2-Mycn pathway during cardiac morphogenesis.
Title: A role of Hey2 transcription factor for right ventricle development through regulation of Tbx2-Mycn pathway during cardiac morphogenesis.
Regulation of otocyst patterning by Tbx2 and Tbx3 is required for inner ear morphogenesis in the mouse.
Title: Regulation of otocyst patterning by Tbx2 and Tbx3 is required for inner ear morphogenesis in the mouse.
The expression of TBX2 in the developing lung shows a role for TBX2 in maintaining the precursor state of pulmonary mesenchymal progenitor cells.
Title: TBX2-positive cells represent a multi-potent mesenchymal progenitor pool in the developing lung.
TBX2 and TBX3 transcription factors have novel and required roles in regulating patterning and differentiation in the murine ureter.
Title: TBX2 and TBX3 act downstream of canonical WNT signaling in patterning and differentiation of the mouse ureteric mesenchyme.
TBX2 is expressed in RPE cells both in vivo and in vitro. Specific knockdown of TBX2 in the human RPE cell line ARPE-19 leads to an accumulation of cells at G1.
Title: The T-Box Transcription Factor TBX2 Regulates Cell Proliferation in the Retinal Pigment Epithelium.
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.

Submit: New GeneRIF Correction See all GeneRIFs (47)

Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Tbx2 (e-PCR), detects polymorphism
- UniSTS:496811

Tbx2 (e-PCR), detects polymorphism
- UniSTS:526028

TBX2_2169 (e-PCR)
- UniSTS:281043

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	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, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables histone deacetylase 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 double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in aorta morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in apoptotic process	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 development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in atrioventricular canal morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cardiac jelly development	ISO Inferred from Sequence Orthology more info
involved_in cardiac muscle cell myoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cardiac muscle tissue 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 cellular senescence	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular senescence	ISO Inferred from Sequence Orthology more info
involved_in cochlea morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within developmental growth involved in morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic camera-type eye morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic digit morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endocardial cushion formation	ISO Inferred from Sequence Orthology more info
involved_in endocardial cushion morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epithelial tube branching involved in lung morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in fibroblast growth factor receptor signaling pathway	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_or_within mammary placode formation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in melanocyte proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mesenchymal cell proliferation involved in lung development	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_or_within muscle cell fate determination	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	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cardiac chamber formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cellular senescence	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of heart looping	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within 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	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 negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in neurogenesis	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 pharyngeal system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_negative_effect pigment metabolic process involved in pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation 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 G1/S phase 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 positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype 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
involved_in regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in response to retinoic acid	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within roof of mouth development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within roof of mouth development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within smooth muscle cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within ureteric peristalsis	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
part_of chromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	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
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed
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 TBX2

Names: T-box protein 2

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_009324.2 → NP_033350.2 T-box transcription factor TBX2

See identical proteins and their annotated locations for NP_033350.2

Status: VALIDATED

Source sequence(s)

AI256645, AK149348, CJ045432, CJ307790

Consensus CDS

CCDS36266.1

UniProtKB/Swiss-Prot

Q5SSP7, Q60707

UniProtKB/TrEMBL

Q3UET7

Related

ENSMUSP00000000095.7, ENSMUST00000000095.7

Conserved Domains (2) summary

pfam12598
Location:305 → 382

TBX; T-box transcription factor

cd00182
Location:104 → 289

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 ...