TBX3 Transcription Factor
T-box transcription factor 3 | TBX3-ISO, XHL, UMS

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]

Member of: DE-3 DE-3.16
Biological processes 64 terms
DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228)DNA-binding transcription factor activity (GO:0003700)DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981)DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981)DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227)RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978)RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978)RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978)RNA polymerase II-specific DNA-binding transcription factor binding (GO:0061629)RNA polymerase II-specific DNA-binding transcription factor binding (GO:0061629)animal organ morphogenesis (GO:0009887)anterior/posterior axis specification, embryo (GO:0008595)atrioventricular canal development (GO:0036302)atrioventricular canal development (GO:0036302)atrioventricular canal morphogenesis (GO:1905222)atrioventricular canal morphogenesis (GO:1905222)cardiac epithelial to mesenchymal transition (GO:0060317)cardiac jelly development (GO:1905072)cardiac jelly development (GO:1905072)cell fate specification (GO:0001708)cellular senescence (GO:0090398)chromatin (GO:0000785)chromatin (GO:0000785)cilium (GO:0005929)embryonic digit morphogenesis (GO:0042733)embryonic forelimb morphogenesis (GO:0035115)endocardial cushion formation (GO:0003272)endocardial cushion formation (GO:0003272)female genitalia development (GO:0030540)follicle-stimulating hormone secretion (GO:0046884)forelimb morphogenesis (GO:0035136)inner ear morphogenesis (GO:0042472)luteinizing hormone secretion (GO:0032275)male genitalia development (GO:0030539)mammary gland development (GO:0030879)mesoderm morphogenesis (GO:0048332)negative regulation of DNA-templated transcription (GO:0045892)negative regulation of apoptotic process (GO:0043066)negative regulation of apoptotic process (GO:0043066)negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)negative regulation of myoblast differentiation (GO:0045662)negative regulation of transcription by RNA polymerase II (GO:0000122)negative regulation of transcription by RNA polymerase II (GO:0000122)negative regulation of transcription by RNA polymerase II (GO:0000122)nucleoplasm (GO:0005654)nucleoplasm (GO:0005654)nucleus (GO:0005634)nucleus (GO:0005634)nucleus (GO:0005634)positive regulation of DNA-templated transcription (GO:0045893)positive regulation of cell cycle (GO:0045787)positive regulation of cell population proliferation (GO:0008284)positive regulation of transcription by RNA polymerase II (GO:0045944)protein binding (GO:0005515)regulation of DNA-templated transcription (GO:0006355)regulation of protein complex stability (GO:0061635)regulation of protein stability (GO:0031647)regulation of transcription by RNA polymerase II (GO:0006357)regulation of transcription by RNA polymerase II (GO:0006357)semicircular canal morphogenesis (GO:0048752)sequence-specific DNA binding (GO:0043565)sequence-specific double-stranded DNA binding (GO:1990837)sinoatrial node cell development (GO:0060931)skeletal system development (GO:0001501)
Expression (TPM)
TBX3 — as a Regulator

Modules regulated by TBX3

Modules significantly affected by knockdown. ↑ Up = module upregulated upon KD; ↓ Down = module downregulated upon KD.

Evidence: Direction:
Perturbation + Binding
Perturbation only
Binding only
Cluster Dir NES padj Bind OR padj (bind)
Evidence: Direction:
Perturbation + Binding
Perturbation only
Binding only
Module Dir NES #gRNA padj Bind OR padj (bind)
Evidence: Direction: Max shown:
Perturbation + Binding
Perturbation only
Binding only
Submodule Module Dir NES #gRNA Bind OR padj (bind)

Genes regulated by TBX3

Genes likely regulated by TBX3 through linked binding evidence in open chromatin. The chart ranks TF-linked genes by their mean Perturb-seq response to TBX3 knockdown, with negative coefficients indicating downregulation and positive coefficients indicating upregulation upon knockdown.

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Regulatory Elements bound by the TF

Open chromatin elements (ATAC-seq) where TBX3 has ChIP-seq or motif footprint binding evidence and which are linked to at least one target gene region.

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TBX3 — as a Regulated Gene

TFs regulating TBX3 0 TFs

Transcription factors with Perturb-seq knockdown data for TBX3. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = TBX3 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

Data: Effect:
TF Mean coef Binding Outlier TF→Gene link

Elements linked to TBX3

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of TBX3, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Accessibility Element Dist. to TSS Link type TFs
chr12:114,403,029–114,403,452 281.0 kb Distal (>10kb) Multiome 112
chr12:114,408,869–114,409,379 275.0 kb Distal (>10kb) Multiome 79
chr12:114,656,987–114,657,820 26.8 kb Distal (>10kb) Multiome 221
chr12:114,668,005–114,669,236 15.7 kb Distal (>10kb) Multiome 557
chr12:114,674,195–114,674,795 9.4 kb Proximal (<10kb) 138
chr12:114,683,478–114,686,174 1.5 kb Proximal (<10kb) Multiome 920
chr12:114,686,759–114,687,464 3.0 kb Proximal (<10kb) Multiome 156
chr12:114,692,178–114,692,739 8.0 kb Proximal (<10kb) 111
chr12:114,711,430–114,712,462 27.7 kb Distal (>10kb) Multiome 98
chr12:115,163,558–115,164,209 479.7 kb Distal (>10kb) Multiome HiCAR 98
chr12:115,207,704–115,208,364 523.8 kb Distal (>10kb) Multiome HiCAR 25
chr12:115,370,670–115,371,193 686.7 kb Distal (>10kb) Multiome HiCAR 52
chr12:115,451,794–115,452,615 767.9 kb Distal (>10kb) Multiome HiCAR 393
chr12:115,507,863–115,508,611 824.0 kb Distal (>10kb) Multiome HiCAR 309
chr12:115,794,594–115,795,278 1110.8 kb Distal (>10kb) Multiome HiCAR 113
chr12:115,916,891–115,917,494 1233.1 kb Distal (>10kb) Multiome HiCAR 363

Genome Browser

Genomic view of the TBX3 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.

chr12:114,393,029 – 115,927,494
Proximal 1 kb Distal 10 kb Multiome HiCAR ATAC-seq RNA-seq