Tbx4 T-box 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tbx4provided by MGI
Official Full Name: T-box 4provided by MGI
Primary source: MGI:MGI:102556
See related: Ensembl:ENSMUSG00000000094 AllianceGenome:MGI:102556
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: 3930401C23
Summary: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within several processes, including angiogenesis; embryonic limb morphogenesis; and lung development. Predicted to be located in nucleus. Is expressed in several structures, including central nervous system; early conceptus; embryo mesenchyme; genitourinary system; and limb primordium. Human ortholog(s) of this gene implicated in ischiocoxopodopatellar syndrome. Orthologous to human TBX4 (T-box transcription factor 4). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in lung adult (RPKM 26.7), limb E14.5 (RPKM 11.0) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 11 C; 11 51.42 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (85777193..85806923)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (85886367..85916097)

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?

Genetic and functional analyses of TBX4 reveal novel mechanisms underlying pulmonary arterial hypertension.
Title: Genetic and functional analyses of TBX4 reveal novel mechanisms underlying pulmonary arterial hypertension.
Tbx4 function during hindlimb development reveals a mechanism that explains the origins of proximal limb defects.
Title: Tbx4 function during hindlimb development reveals a mechanism that explains the origins of proximal limb defects.
TBX4 is a mesenchymal transcription factor that drives accumulation of myofibroblasts and the development of lung fibrosis
Title: Transcription factor TBX4 regulates myofibroblast accumulation and lung fibrosis.
These data extend our understanding of the role and regulation of Tbx4 and Shox2 in limb development and limb associated diseases.
Title: Tbx4 interacts with the short stature homeobox gene Shox2 in limb development.
Although postnatal deletion of Tbx4 in oocytes does not obviously impair fertility, it is possible that the reduction in primordial germ cells observed in Tbx4 homozygous null mutant embryos could affect long-term fertility in adults.
Title: Investigating the role of tbx4 in the female germline in mice.
Candidate gene approach identifies multiple genes and signaling pathways downstream of Tbx4 in the developing allantois
Title: Candidate gene approach identifies multiple genes and signaling pathways downstream of Tbx4 in the developing allantois.
Mice deficient in Tbx4 and Tbx5 show severely reduced lung branching at mid-gestation.
Title: Multiple roles and interactions of Tbx4 and Tbx5 in development of the respiratory system.
Tbx4 expression and lineage reveal that various distinct appendages, such as the allantois, hindlimb, and external genitalia, all arise from a single mesenchymal expression domain.
Title: Identity and fate of Tbx4-expressing cells reveal developmental cell fate decisions in the allantois, limb, and external genitalia.
It was shown that, firstly, Pitx1 influences hindlimb outgrowth by regulating Tbx4 expression levels and that, subsequently,Pitx1 shapes hindlimb bone and soft tissue morphology independently of Tbx4.
Title: Pitx1 is necessary for normal initiation of hindlimb outgrowth through regulation of Tbx4 expression and shapes hindlimb morphologies via targeted growth control.
Study find that Tbx4 is the primary effector of HL identity for both skeletal and muscle development.
Title: Divergent transcriptional activities determine limb identity.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

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

Targeted (8) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11Fpm18 (e-PCR)
- UniSTS:510468

D11Fpm19 (e-PCR)
- UniSTS:510469

D11Fpm21 (e-PCR)
- UniSTS:510470

NoName (e-PCR)
- UniSTS:489171

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 protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in angiogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell fate specification	IBA Inferred from Biological aspect of Ancestor more info
involved_in embryonic hindlimb morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within embryonic limb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic lung development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within limb morphogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in limb morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in limb morphogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
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
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
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 skeletal system morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in skeletal system morphogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Component	Evidence Code	Pubs
part_of chromatin	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: T-box transcription factor TBX4

Names: T-box protein 4

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_011536.3 → NP_035666.2 T-box transcription factor TBX4 isoform a

See identical proteins and their annotated locations for NP_035666.2

Status: VALIDATED

Source sequence(s)

AL592465

Consensus CDS

CCDS25196.1

UniProtKB/Swiss-Prot

B1AQT9, P70325, Q8R5F6

Related

ENSMUSP00000103682.2, ENSMUST00000108047.8

Conserved Domains (1) summary

cd00182
Location:71 → 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 ...
NM_172798.1 → NP_766386.1 T-box transcription factor TBX4 isoform b

See identical proteins and their annotated locations for NP_766386.1

Status: VALIDATED

Source sequence(s)

AK028407, BB755063, BQ560189

Consensus CDS

CCDS48874.1

UniProtKB/TrEMBL

Q8BSY3

Related

ENSMUSP00000103680.3, ENSMUST00000108045.3

Conserved Domains (1) summary

cd00182
Location:1 → 160

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 ...