TBX3
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Also known as TBX3-ISOXHL
Summary
TBX3 (T-box transcription factor 3, HGNC:11602) is a protein-coding gene on chromosome 12q24.21, encoding T-box transcription factor TBX3 (O15119). Transcriptional repressor involved in developmental processes. It is haploinsufficient (ClinGen: sufficient evidence).
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.
Source: NCBI Gene 6926 — RefSeq curated summary.
At a glance
- Gene–disease (curated): ulnar-mammary syndrome (Definitive, ClinGen) — +1 more curated relationship
- GWAS associations: 137
- Clinical variants (ClinVar): 670 total — 22 pathogenic, 14 likely-pathogenic
- Phenotypes (HPO): 73
- Cancer driver (intOGen): activating (oncogene-like) across 3 cancer types
- Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
- Transcription factor: yes — 29 downstream targets (CollecTRI)
- MANE Select transcript:
NM_005996
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11602 |
| Approved symbol | TBX3 |
| Name | T-box transcription factor 3 |
| Location | 12q24.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TBX3-ISO, XHL |
| Ensembl gene | ENSG00000135111 |
| Ensembl biotype | protein_coding |
| OMIM | 601621 |
| Entrez | 6926 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 2 protein_coding, 2 retained_intron
ENST00000257566, ENST00000349155, ENST00000548503, ENST00000552054
RefSeq mRNA: 2 — MANE Select: NM_005996
NM_005996, NM_016569
CCDS: CCDS9175, CCDS9176
Canonical transcript exons
ENST00000349155 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000755589 | 114680879 | 114681146 |
| ENSE00000918022 | 114674165 | 114674835 |
| ENSE00000918024 | 114677580 | 114677656 |
| ENSE00001201415 | 114676313 | 114676470 |
| ENSE00001201439 | 114682812 | 114684175 |
| ENSE00002408640 | 114679505 | 114679651 |
| ENSE00002412265 | 114670255 | 114672302 |
Expression profiles
Bgee: expression breadth ubiquitous, 243 present calls, max score 99.13.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.1712 / max 586.2111, expressed in 1390 samples.
FANTOM5 promoters (15 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 133409 | 12.9297 | 1366 |
| 133416 | 1.1317 | 307 |
| 133410 | 0.8289 | 377 |
| 133415 | 0.4351 | 160 |
| 133408 | 0.4322 | 182 |
| 206911 | 0.3950 | 192 |
| 133407 | 0.3846 | 168 |
| 206910 | 0.3739 | 208 |
| 206909 | 0.2850 | 142 |
| 133405 | 0.2276 | 95 |
Top tissues by expression
276 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right adrenal gland cortex | UBERON:0035827 | 99.13 | gold quality |
| right adrenal gland | UBERON:0001233 | 99.04 | gold quality |
| adrenal cortex | UBERON:0001235 | 98.91 | gold quality |
| adrenal tissue | UBERON:0018303 | 98.88 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.76 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.73 | gold quality |
| adrenal gland | UBERON:0002369 | 98.29 | gold quality |
| urethra | UBERON:0000057 | 97.96 | gold quality |
| stromal cell of endometrium | CL:0002255 | 97.91 | gold quality |
| seminal vesicle | UBERON:0000998 | 97.73 | gold quality |
| prostate gland | UBERON:0002367 | 97.50 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 96.99 | gold quality |
| right lung | UBERON:0002167 | 96.23 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 95.95 | gold quality |
| thyroid gland | UBERON:0002046 | 95.85 | gold quality |
| placenta | UBERON:0001987 | 95.04 | gold quality |
| jejunal mucosa | UBERON:0000399 | 94.50 | gold quality |
| corpus epididymis | UBERON:0004359 | 93.98 | gold quality |
| duodenum | UBERON:0002114 | 93.69 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 93.68 | gold quality |
| left ovary | UBERON:0002119 | 93.32 | gold quality |
| right ovary | UBERON:0002118 | 93.05 | gold quality |
| penis | UBERON:0000989 | 93.01 | gold quality |
| endometrium | UBERON:0001295 | 92.97 | gold quality |
| vagina | UBERON:0000996 | 92.96 | gold quality |
| endocervix | UBERON:0000458 | 92.95 | gold quality |
| urinary bladder | UBERON:0001255 | 92.90 | gold quality |
| decidua | UBERON:0002450 | 92.79 | gold quality |
| nipple | UBERON:0002030 | 92.78 | gold quality |
| right lobe of liver | UBERON:0001114 | 92.18 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6701 | yes | 38.40 |
| E-MTAB-5061 | yes | 11.11 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
29 targets.
| Target | Regulation |
|---|---|
| BGLAP | Repression |
| BMP4 | |
| CDH1 | Repression |
| CDH17 | |
| CDKN1A | Repression |
| CDKN2A | Repression |
| CSF1 | |
| FRZB | Repression |
| GATA6 | |
| GJA1 | |
| GJA5 | Repression |
| GJC1 | |
| GJC3 | |
| HCN4 | |
| HNF1B | Repression |
| IBSP | Repression |
| JDP2 | Unknown |
| MIR137 | |
| NPPA | Repression |
| ONECUT1 | Repression |
| PTEN | |
| RUNX2 | Repression |
| SHISA3 | Repression |
| SP7 | Repression |
| SPP1 | |
| TBX2 | Repression |
| TBX3 | |
| TNFRSF11A | |
| TP53 | Unknown |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA1566.1 | TBX3 | TBX2-related factors |
| MA1566.2 | TBX3 | TBX2-related factors |
| MA1566.3 | TBX3 | TBX2-related factors |
JASPAR matrix evidence (PMIDs): PMID:18829543
Upstream regulators (CollecTRI, top): AP1, CTNNB1, JUNB, MYC, PRDM4, SIRT1, TBX2, TBX3, TCF3, TP53
miRNA regulators (miRDB)
146 targeting TBX3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
Functional genomics
ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 40)
- Mutations in Tbx3 are responsible for ulnar-mammary syndrome (UMS), an autosomal dominant disorder affecting limb, tooth, hair, apocrine gland and genital development. (PMID:11689487)
- identification of a variant T-site as the essential TBX2/TBX3-binding element in the human p14(ARF) promoter (PMID:12000749)
- Results demonstrate the structural consequences of T-box domain protein 3 point mutations observed in Ulnar-Mammary syndrome and Holt-Oram syndrome patients. (PMID:12005433)
- The results are consistent with the previous finding that UMS is caused by haploinsufficiency of TBX3. (PMID:12116211)
- Overexpression of TBX3 is associated with breast cancer (PMID:15289316)
- increased expression of truncated cSHMT, Tbx3 and utrophin in plasma samples obtained from patients at early stages of ovarian cancer and breast cancer (PMID:16049973)
- A literature review of TBX3 combined with a novel TBX3 mutation in a family with ulnar-mammary syndrome finds an association in mutations that disrupt the TBX3 DNA-binding domain and a higher frequency of severe upper limb malformations and teeth defects. (PMID:16530712)
- Required for heart and limb formation, and is mutated in ulnar-mammary syndrome. (PMID:16556916)
- Data show that Tbx3 plays an important role in osteogenic differentiation and proliferation of human mesenchymal stem cells derived from adipose tissue. (PMID:16955224)
- Nyx2-5 confines recombinant hTBX3 expression to the sinoatrial node & sinus horns in mice. Tbx3 suppresses chamber differentiation–another mechanism by which the Tbx3-positive sinoatrial node is shielded from differentiating into atrial myocardium. (PMID:17234970)
- TBX3 repression to its targets is dependent on HDAC activity. TBX3 may serve as a biomarker for breast cancer. (PMID:18245468)
- Fluorescence in situ hybridization did not show major deletions or duplications at chromosome 22q11 as well as the TBX5/TBX3 region at 12q24.1. (PMID:18726671)
- Tbx2 and Tbx3 may play a dual role during the radial to vertical growth phase transition by both inhibiting senescence via repression of p21(CIP1) expression, and enhancing melanoma invasiveness by decreasing E-cadherin levels. (PMID:18829543)
- TBX3 mRNA expression was significantly higher in metastatic breast cancer than in non-metastatic tumors. (PMID:19218121)
- The mRNA and protein expressions of Tbx3 are markedly upregulated in breast cancer cell lines and tissue samples. (PMID:19403417)
- Studies identified Tbx3 as a key regulator of the SAN phenotype. (PMID:20133910)
- Tbx3 expression was found to be suppressed by AFLL when the expression of tumor suppressor genes p14 and p53 were activated (PMID:20702496)
- pathway that up-regulates TBX3 expression and provides additional evidence that increased levels of TBX3 contribute to metastasis. (PMID:20942798)
- Data show that estrogen signaling expands the pool of functional breast cancer stem-like cells through a paracrine FGF/FGFR/Tbx3 signaling pathway. (PMID:21098263)
- Study indicate mutation of TBX3 gene in the family. (PMID:21199695)
- In situ hybridization reveals Tbx3 and Sox4 to co-localize extensively in the embryo including the atrioventricular and outflow tract cushion mesenchyme and a small area of interventricular myocardium. (PMID:21538160)
- identify a Sp1 element and two CCAAT boxes to be essential for basal TBX3 promoter activity (PMID:21784138)
- Tbx3 overexpression promotes squamous carcinoma cell survival displaying an epithelial-mesenchymal transition phenotype. (PMID:22154512)
- TBX3 CPG island methylation predicts progression in bladder cancer. (PMID:22284968)
- TBX3 promotes human embryonic stem cell proliferation and neuroepithelial differentiation in a differentiation stage-dependent manner. (PMID:22865636)
- Data show that Tbx3 is up-regulated in tissue samples of head and neck squamous cell cancer (HNSCC) patients and that Tbx3 represses PTEN transcription. (PMID:23082988)
- the sequence variants within the TBX3 gene promoter did not contribute to VSD etiology. (PMID:23116943)
- Oncogenic B-RAF(V600E) signaling induces the T-Box3 transcriptional repressor to repress E-cadherin and enhance melanoma cell invasion. (PMID:23190890)
- TBX3 gene polymorphism is associated in the development of colorectal cancers. (PMID:23266556)
- Coimmunoprecipitations and immunofluorescence analyses confirmed the L2-TBX2 interaction and revealed that human papillomavirus 16 L2 also interacts with human TBX3, another member of the T-box family. (PMID:23388722)
- TBX3 exon 2 mutation is rare in most human tumors (PMID:23656610)
- TBX3 plays a pivotal role in mediating the antiproliferative and promigratory role of TGF-beta1 in breast epithelial cells and skin keratinocytes. (PMID:24025717)
- TBX3 may play an important role as a reciprocal switch between substrate dependent cell proliferation and tumour invasion. (PMID:24098938)
- Polymorphisms in several genes involved in the Wnt signaling pathway were associated with hepatic fibrosis or inflammation risk in HCV-infected males. (PMID:24386373)
- The pleiotropic effects of TBX3 mutations in humans and mice likely result from disrupting at least two molecular functions of this protein: transcriptional regulation and pre-mRNA splicing. (PMID:24675841)
- An enhancement in TBX3 protein expression both in glomerular and tubular regions. (PMID:25158279)
- Paracrine WNT signaling is stimulated by estrogen and progesterone, while autocrine WNT signaling is induced by the embryonic T-box transcription factor TBX3 (PMID:25350852)
- Data show that the down-regulation of T-box transcription factor TBX2 by transforming growth factor beta I (TGF-beta1) is mediated by T-box transcription factor TBX3. (PMID:25371204)
- this new molecular-grade based on the combination of TBX2 and TBX3 methylation is an excellent marker for predicting progression to muscle-invasive bladder cancer in patients with primary pTaG1/2 bladder cancer. (PMID:25394776)
- TBX3 gene variants may contribute to indirect inguinal hernia as a rare risk factor by reducing TBX3 levels (PMID:25455105)
Cross-species orthologs
14 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tbx3a | ENSDARG00000002216 |
| mus_musculus | Tbx3 | ENSMUSG00000018604 |
| rattus_norvegicus | Tbx3 | ENSRNOG00000008706 |
| drosophila_melanogaster | H15 | FBGN0016660 |
| drosophila_melanogaster | mid | FBGN0261963 |
| drosophila_melanogaster | ocm | FBGN0266083 |
| caenorhabditis_elegans | WBGENE00003106 | |
| caenorhabditis_elegans | WBGENE00004750 | |
| caenorhabditis_elegans | WBGENE00006545 | |
| caenorhabditis_elegans | WBGENE00006546 | |
| caenorhabditis_elegans | WBGENE00006556 | |
| caenorhabditis_elegans | WBGENE00006557 | |
| caenorhabditis_elegans | WBGENE00006559 | |
| caenorhabditis_elegans | WBGENE00044798 |
Paralogs (16): TBX21 (ENSG00000073861), TBX5 (ENSG00000089225), TBX15 (ENSG00000092607), TBX18 (ENSG00000112837), TBX2 (ENSG00000121068), TBX4 (ENSG00000121075), TBX22 (ENSG00000122145), TBR1 (ENSG00000136535), TBX19 (ENSG00000143178), TBX6 (ENSG00000149922), EOMES (ENSG00000163508), TBXT (ENSG00000164458), TBX20 (ENSG00000164532), TBX10 (ENSG00000167800), MGA (ENSG00000174197), TBX1 (ENSG00000184058)
Protein
Protein identifiers
T-box transcription factor TBX3 — O15119 (reviewed: O15119)
All UniProt accessions (1): O15119
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional repressor involved in developmental processes. Binds to the palindromic T site 5’-TTCACACCTAGGTGTGAA-3’ DNA sequence, or a half-site, which are present in the regulatory region of several genes. Probably plays a role in limb pattern formation. Required for mammary placode induction, and maintenance of the mammary buds during development. Involved in branching morphogenesis in both developing lungs and adult mammary glands, via negative modulation of target genes; acting redundantly with TBX2. Required, together with TBX2, to maintain cell proliferation in the embryonic lung mesenchyme; perhaps acting downstream of SHH, BMP and TGFbeta signaling. Involved in modulating early inner ear development, acting independently of, and also redundantly with, TBX2 in different subregions of the developing ear. Acts as a negative regulator of PML function in cellular senescence.
Subunit / interactions. Interacts with PML (isoform PML-4).
Subcellular location. Nucleus.
Tissue specificity. Widely expressed.
Disease relevance. Ulnar-mammary syndrome (UMS) [MIM:181450] Characterized by ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands. The disease is caused by variants affecting the gene represented in this entry.
Miscellaneous. Contains an interrupted T-box domain. Contains an interrupted T-box domain. May be produced by joining exon 1 to exon 7 thereby eliminating the T-box.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O15119-1 | II | yes |
| O15119-2 | I | |
| O15119-3 | III | |
| O15119-4 | IV |
RefSeq proteins (2): NP_005987, NP_057653 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001699 | TF_T-box | Family |
| IPR008967 | p53-like_TF_DNA-bd_sf | Homologous_superfamily |
| IPR018186 | TF_T-box_CS | Conserved_site |
| IPR022582 | TBX2/3_TAD | Domain |
| IPR036960 | T-box_sf | Homologous_superfamily |
| IPR046360 | T-box_DNA-bd | Domain |
| IPR048387 | TBX2_3_RD | Domain |
Pfam: PF00907, PF12598, PF20627
UniProt features (43 total): strand 9, modified residue 8, helix 6, compositionally biased region 4, sequence conflict 4, region of interest 4, splice variant 3, DNA-binding region 2, sequence variant 2, chain 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1H6F | X-RAY DIFFRACTION | 1.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O15119-F1 | 56.55 | 0.23 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (8): 371, 432, 438, 456, 707, 738, 740, 742
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-9856649 | Transcriptional and post-translational regulation of MITF-M expression and activity |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-9730414 | MITF-M-regulated melanocyte development |
MSigDB gene sets: 576 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GOBP_CARDIAC_CHAMBER_DEVELOPMENT, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, E2F_Q4_01, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_MAMMARY_GLAND_MORPHOGENESIS, GOBP_MUSCLE_TISSUE_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, GOBP_CARDIAC_SEPTUM_DEVELOPMENT, GOBP_AXIS_SPECIFICATION, GOBP_GLAND_MORPHOGENESIS, GOBP_VENTRICULAR_SEPTUM_MORPHOGENESIS, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_CARDIAC_CHAMBER_MORPHOGENESIS
GO Biological Process (62): negative regulation of transcription by RNA polymerase II (GO:0000122), skeletal system development (GO:0001501), blood vessel development (GO:0001568), in utero embryonic development (GO:0001701), cell fate specification (GO:0001708), heart looping (GO:0001947), outflow tract morphogenesis (GO:0003151), atrioventricular bundle cell differentiation (GO:0003167), endocardial cushion formation (GO:0003272), DNA-templated transcription (GO:0006351), regulation of transcription by RNA polymerase II (GO:0006357), positive regulation of cell population proliferation (GO:0008284), anterior/posterior axis specification, embryo (GO:0008595), animal organ morphogenesis (GO:0009887), specification of animal organ position (GO:0010159), stem cell population maintenance (GO:0019827), limbic system development (GO:0021761), male genitalia development (GO:0030539), female genitalia development (GO:0030540), negative regulation of epithelial cell differentiation (GO:0030857), mammary gland development (GO:0030879), regulation of protein stability (GO:0031647), luteinizing hormone secretion (GO:0032275), embryonic forelimb morphogenesis (GO:0035115), embryonic hindlimb morphogenesis (GO:0035116), forelimb morphogenesis (GO:0035136), atrioventricular canal development (GO:0036302), embryonic digit morphogenesis (GO:0042733), negative regulation of apoptotic process (GO:0043066), negative regulation of myoblast differentiation (GO:0045662), positive regulation of cell cycle (GO:0045787), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of transcription by RNA polymerase II (GO:0045944), follicle-stimulating hormone secretion (GO:0046884), mesoderm morphogenesis (GO:0048332), semicircular canal morphogenesis (GO:0048752), smooth muscle cell differentiation (GO:0051145), roof of mouth development (GO:0060021), cardiac epithelial to mesenchymal transition (GO:0060317), ventricular septum morphogenesis (GO:0060412)
GO Molecular Function (10): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), sequence-specific DNA binding (GO:0043565), RNA polymerase II-specific DNA-binding transcription factor binding (GO:0061629), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)
GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cilium (GO:0005929)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| MITF-M-regulated melanocyte development | 1 |
| Developmental Biology | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 4 |
| regulation of transcription by RNA polymerase II | 2 |
| transcription by RNA polymerase II | 2 |
| system development | 2 |
| anatomical structure morphogenesis | 2 |
| regulation of DNA-templated transcription | 2 |
| genitalia development | 2 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 2 |
| cellular anatomical structure | 2 |
| negative regulation of DNA-templated transcription | 1 |
| vasculature development | 1 |
| anatomical structure development | 1 |
| chordate embryonic development | 1 |
| cell fate commitment | 1 |
| cellular developmental process | 1 |
| embryonic heart tube morphogenesis | 1 |
| determination of heart left/right asymmetry | 1 |
| heart morphogenesis | 1 |
| bundle of His development | 1 |
| His-Purkinje system cell differentiation | 1 |
| endocardial cushion morphogenesis | 1 |
| anatomical structure formation involved in morphogenesis | 1 |
| gene expression | 1 |
| RNA biosynthetic process | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| positive regulation of cellular process | 1 |
| embryonic axis specification | 1 |
| tripartite regional subdivision | 1 |
| anterior/posterior axis specification | 1 |
| animal organ development | 1 |
| regionalization | 1 |
| animal organ morphogenesis | 1 |
| multicellular organismal process | 1 |
| maintenance of cell number | 1 |
| forebrain development | 1 |
| male sex differentiation | 1 |
| reproductive system development | 1 |
| female sex differentiation | 1 |
| epithelial cell differentiation | 1 |
Protein interactions and networks
STRING
2246 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TBX3 | POU5F1 | P31359 | 890 |
| TBX3 | NANOG | Q9H9S0 | 874 |
| TBX3 | KLF4 | P78338 | 874 |
| TBX3 | SOX2 | P48431 | 871 |
| TBX3 | RBM19 | Q9Y4C8 | 870 |
| TBX3 | NKX2-5 | P52952 | 867 |
| TBX3 | ESRRB | O95718 | 822 |
| TBX3 | SALL4 | Q9UJQ4 | 819 |
| TBX3 | TBX5 | Q99593 | 802 |
| TBX3 | GATA4 | P43694 | 753 |
| TBX3 | RBM39 | Q14498 | 745 |
| TBX3 | GJA5 | P36382 | 722 |
| TBX3 | SHOX2 | O60902 | 716 |
| TBX3 | HCN4 | Q9Y3Q4 | 715 |
| TBX3 | LIF | P15018 | 710 |
IntAct
40 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TLE5 | TBX3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CA8 | TBX3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TBX3 | TLE5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TBX3 | CA8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TBX3 | PRR20D | psi-mi:“MI:0915”(physical association) | 0.560 |
| TBX3 | PFDN5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TBX3 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| TBX3 | CSF3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TBX3 | UFSP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| Dlg4 | TBX3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TBX3 | ANXA5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PB2 | psi-mi:“MI:0914”(association) | 0.350 | |
| SOX2 | CBX4 | psi-mi:“MI:0914”(association) | 0.350 |
| HNRNPLL | TBX3 | psi-mi:“MI:0914”(association) | 0.350 |
| AFG3L2 | TBX3 | psi-mi:“MI:0914”(association) | 0.350 |
| AKT1 | TBX3 | psi-mi:“MI:2364”(proximity) | 0.270 |
| BRAF | TBX3 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SMAD4 | TBX3 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SPOP | TBX3 | psi-mi:“MI:2364”(proximity) | 0.270 |
| TBX3 | SPOP | psi-mi:“MI:2364”(proximity) | 0.270 |
| TBX3 | PTPN11 | psi-mi:“MI:2364”(proximity) | 0.270 |
| TBX3 | PRR20D | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (93): TBX3 (Two-hybrid), TBX3 (Two-hybrid), TBX3 (Affinity Capture-Western), PLEKHF2 (Two-hybrid), TBX3 (Affinity Capture-MS), TBX3 (Affinity Capture-MS), TBX3 (Affinity Capture-MS), TBX3 (Affinity Capture-MS), TBX3 (Affinity Capture-MS), TBX3 (Affinity Capture-MS), TBX3 (Affinity Capture-MS), TBX3 (Affinity Capture-MS), TBX3 (Affinity Capture-MS), TBX3 (Affinity Capture-MS), TBX3 (Affinity Capture-MS)
ESM2 similar proteins: A4QNP7, A8TSS9, O09100, O15119, O70306, O95935, P55198, P70062, P70063, P70064, P70324, P70325, P81068, Q0VGT2, Q13207, Q25113, Q2I327, Q2MJB4, Q32NI9, Q3SA48, Q3SA49, Q4AE28, Q5UU75, Q60707, Q6GL68, Q6PCL0, Q6YHU8, Q76L87, Q7TST9, Q7ZTU9, Q800Q5, Q861Q9, Q863A2, Q86V15, Q8AX98, Q8AXX2, Q8IVH2, Q8UW76, Q90964, Q90ZB6
Diamond homologs: A1YF56, A2AWL7, D3ZJK7, E1BEA8, O01409, O13161, O15119, O15178, O17212, O43435, O54839, O60806, O70306, O73718, O75333, O95935, O95936, O95947, P20293, P24781, P55965, P56158, P57082, P70323, P70324, P70325, P70326, P70327, P79742, P79777, P79778, P79779, P79944, P80492, P87377, P90971, Q07998, Q13207, Q16650, Q17134
SIGNOR signaling
5 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| AKT3 | “up-regulates activity” | TBX3 | phosphorylation |
| TBX3 | “down-regulates quantity by repression” | CDH1 | “transcriptional regulation” |
| AKT | “up-regulates activity” | TBX3 | phosphorylation |
| TBX3 | “down-regulates quantity by repression” | CDKN1A | “transcriptional regulation” |
| TBX3 | “down-regulates quantity by repression” | CDKN2A | “transcriptional regulation” |
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: activating (oncogene-like) across 3 cancer types — BRCA, COADREAD, DLBCLNOS.
Clinical variants and AI predictions
ClinVar
670 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 22 |
| Likely pathogenic | 14 |
| Uncertain significance | 348 |
| Likely benign | 209 |
| Benign | 42 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1070549 | NM_005996.4(TBX3):c.1070_1080del (p.Ala357fs) | Pathogenic |
| 1527734 | GRCh37/hg19 12q24.21(chr12:114995645-115376925) | Pathogenic |
| 1706466 | NM_005996.4(TBX3):c.1587dup (p.Ser530fs) | Pathogenic |
| 2131719 | NM_005996.4(TBX3):c.704dup (p.Arg236fs) | Pathogenic |
| 2445206 | NM_005996.4(TBX3):c.1287_1294dup (p.Glu432fs) | Pathogenic |
| 2502305 | NM_005996.4(TBX3):c.868C>T (p.Arg290Ter) | Pathogenic |
| 2635163 | NM_005996.4(TBX3):c.1141G>T (p.Glu381Ter) | Pathogenic |
| 2709083 | NM_005996.4(TBX3):c.438dup (p.Ala147fs) | Pathogenic |
| 31909 | NM_005996.4(TBX3):c.991C>T (p.Gln331Ter) | Pathogenic |
| 3356423 | NM_005996.4(TBX3):c.657+1G>A | Pathogenic |
| 3653115 | NM_005996.4(TBX3):c.510G>A (p.Trp170Ter) | Pathogenic |
| 3669887 | NM_005996.4(TBX3):c.1038dup (p.Asp347fs) | Pathogenic |
| 4071573 | NM_005996.4(TBX3):c.389+1G>A | Pathogenic |
| 417720 | NM_005996.4(TBX3):c.1423C>T (p.Gln475Ter) | Pathogenic |
| 4279429 | GRCh37/hg19 12q24.21(chr12:114686840-115741264)x1 | Pathogenic |
| 4538442 | NM_005996.4(TBX3):c.1008dup (p.Ala337fs) | Pathogenic |
| 4720369 | NM_005996.4(TBX3):c.48dup (p.Tyr17fs) | Pathogenic |
| 591004 | NM_005996.4(TBX3):c.1920_1921dup (p.Pro641fs) | Pathogenic |
| 7987 | NM_005996.4(TBX3):c.227del (p.Ile76fs) | Pathogenic |
| 7988 | NM_005996.4(TBX3):c.657+1G>C | Pathogenic |
| 7989 | NM_005996.4(TBX3):c.817A>T (p.Lys273Ter) | Pathogenic |
| 7990 | NM_005996.4(TBX3):c.88dup (p.Met30fs) | Pathogenic |
| 1709213 | NM_005996.4(TBX3):c.961dup (p.Ser321fs) | Likely pathogenic |
| 2444419 | NM_005996.4(TBX3):c.1170dup (p.Ala391fs) | Likely pathogenic |
| 3061897 | NM_005996.4(TBX3):c.400C>G (p.Pro134Ala) | Likely pathogenic |
| 3064137 | NM_005996.4(TBX3):c.1921_1922insG (p.Pro641fs) | Likely pathogenic |
| 3065230 | NM_005996.4(TBX3):c.945del (p.Ser316fs) | Likely pathogenic |
| 3075717 | NM_005996.4(TBX3):c.309dup (p.Lys104fs) | Likely pathogenic |
| 3353475 | NM_005996.4(TBX3):c.390-1G>A | Likely pathogenic |
| 3382904 | NM_005996.4(TBX3):c.389+1G>T | Likely pathogenic |
SpliceAI
1127 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:114672298:AGGCC:A | acceptor_gain | 1.0000 |
| 12:114672299:GGCC:G | acceptor_gain | 1.0000 |
| 12:114672300:GCC:G | acceptor_gain | 1.0000 |
| 12:114672301:CC:C | acceptor_gain | 1.0000 |
| 12:114672301:CCC:C | acceptor_gain | 1.0000 |
| 12:114672302:CC:C | acceptor_gain | 1.0000 |
| 12:114672302:CCTG:C | acceptor_loss | 1.0000 |
| 12:114672303:C:CC | acceptor_gain | 1.0000 |
| 12:114672303:CT:C | acceptor_loss | 1.0000 |
| 12:114672308:G:C | acceptor_gain | 1.0000 |
| 12:114672308:G:GC | acceptor_gain | 1.0000 |
| 12:114676471:C:CC | acceptor_gain | 1.0000 |
| 12:114677575:CTCA:C | donor_loss | 1.0000 |
| 12:114677576:TCA:T | donor_loss | 1.0000 |
| 12:114677577:CA:C | donor_loss | 1.0000 |
| 12:114677578:ACC:A | donor_loss | 1.0000 |
| 12:114677654:TAT:T | acceptor_gain | 1.0000 |
| 12:114677654:TATC:T | acceptor_loss | 1.0000 |
| 12:114677656:TC:T | acceptor_loss | 1.0000 |
| 12:114677657:C:CC | acceptor_gain | 1.0000 |
| 12:114677657:C:CG | acceptor_loss | 1.0000 |
| 12:114679500:TTTA:T | donor_loss | 1.0000 |
| 12:114679502:TA:T | donor_loss | 1.0000 |
| 12:114679504:CCT:C | donor_loss | 1.0000 |
| 12:114679509:T:C | donor_gain | 1.0000 |
| 12:114679647:ATAGT:A | acceptor_gain | 1.0000 |
| 12:114679648:TAGT:T | acceptor_gain | 1.0000 |
| 12:114679650:GT:G | acceptor_gain | 1.0000 |
| 12:114679650:GTCT:G | acceptor_loss | 1.0000 |
| 12:114679651:TCTG:T | acceptor_loss | 1.0000 |
AlphaMissense
4730 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:114677588:T:A | R311S | 1.000 |
| 12:114677588:T:G | R311S | 1.000 |
| 12:114677589:C:A | R311I | 1.000 |
| 12:114677589:C:G | R311T | 1.000 |
| 12:114677595:C:T | G309D | 1.000 |
| 12:114677596:C:A | G309C | 1.000 |
| 12:114677596:C:G | G309R | 1.000 |
| 12:114677601:C:A | G307V | 1.000 |
| 12:114677601:C:T | G307E | 1.000 |
| 12:114677602:C:G | G307R | 1.000 |
| 12:114677602:C:T | G307R | 1.000 |
| 12:114677607:T:A | D305V | 1.000 |
| 12:114677607:T:C | D305G | 1.000 |
| 12:114677607:T:G | D305A | 1.000 |
| 12:114677608:C:G | D305H | 1.000 |
| 12:114677610:C:A | R304L | 1.000 |
| 12:114677610:C:G | R304P | 1.000 |
| 12:114677610:C:T | R304Q | 1.000 |
| 12:114677611:G:A | R304W | 1.000 |
| 12:114677611:G:C | R304G | 1.000 |
| 12:114677612:G:C | F303L | 1.000 |
| 12:114677612:G:T | F303L | 1.000 |
| 12:114677613:A:C | F303C | 1.000 |
| 12:114677613:A:G | F303S | 1.000 |
| 12:114677614:A:C | F303V | 1.000 |
| 12:114677614:A:G | F303L | 1.000 |
| 12:114677614:A:T | F303I | 1.000 |
| 12:114677616:C:A | G302V | 1.000 |
| 12:114677616:C:T | G302D | 1.000 |
| 12:114677617:C:A | G302C | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000081459 (12:114680153 C>A,T), RS1000092646 (12:114672912 A>G), RS1000352746 (12:114684767 C>T), RS1000372007 (12:114683901 C>A,G,T), RS1000526693 (12:114673154 G>C), RS1000679028 (12:114679007 A>G), RS1000707471 (12:114684933 C>T), RS1000748022 (12:114678009 G>GCATA), RS1000785999 (12:114684967 G>A), RS1000820545 (12:114680154 G>A,C), RS1001196417 (12:114673652 C>T), RS1001217414 (12:114679281 A>G), RS1001248638 (12:114673404 G>T), RS1001251914 (12:114671217 A>C), RS1001348992 (12:114676253 T>A)
Disease associations
OMIM: gene MIM:601621 | disease phenotypes: MIM:181450, MIM:614823
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| ulnar-mammary syndrome | Definitive | Autosomal dominant |
| heart conduction disease | Limited | Autosomal dominant |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| ulnar-mammary syndrome | Definitive | AD |
Mondo (6): ulnar-mammary syndrome (MONDO:0008411), breast ductal adenocarcinoma (MONDO:0005590), eccrine porocarcinoma (MONDO:0006189), aortic valve disease 2 (MONDO:0013902), obesity disorder (MONDO:0011122), heart conduction disease (MONDO:0000992)
Orphanet (3): Ulnar-mammary syndrome (Orphanet:3138), Obesity due to melanocortin 4 receptor deficiency (Orphanet:71529), NON RARE IN EUROPE: Non rare obesity (Orphanet:521399)
HPO phenotypes
73 total (30 of 73 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000023 | Inguinal hernia |
| HP:0000028 | Cryptorchidism |
| HP:0000046 | Small scrotum |
| HP:0000049 | Shawl scrotum |
| HP:0000054 | Micropenis |
| HP:0000089 | Renal hypoplasia |
| HP:0000130 | Abnormality of the uterus |
| HP:0000144 | Decreased fertility |
| HP:0000668 | Hypodontia |
| HP:0000768 | Pectus carinatum |
| HP:0000813 | Bicornuate uterus |
| HP:0000823 | Delayed puberty |
| HP:0000882 | Hypoplastic scapulae |
| HP:0000889 | Abnormal clavicle morphology |
| HP:0000894 | Short clavicles |
| HP:0000912 | Sprengel anomaly |
| HP:0001162 | Postaxial hand polydactyly |
| HP:0001167 | Abnormal finger morphology |
| HP:0001231 | Abnormal fingernail morphology |
| HP:0001513 | Obesity |
| HP:0001601 | Laryngomalacia |
| HP:0001607 | Subglottic stenosis |
| HP:0001629 | Ventricular septal defect |
| HP:0001800 | Hypoplastic toenails |
| HP:0002021 | Pyloric stenosis |
| HP:0002023 | Anal atresia |
| HP:0002025 | Anal stenosis |
| HP:0002215 | Sparse axillary hair |
| HP:0002221 | Absent axillary hair |
GWAS associations
137 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000396_6 | Diastolic blood pressure | 4.000000e-08 |
| GCST000562_5 | PR interval | 3.000000e-17 |
| GCST000919_6 | Serum prostate-specific antigen levels | 2.000000e-11 |
| GCST001072_8 | Blood pressure | 8.000000e-07 |
| GCST001074_2 | Blood pressure | 1.000000e-10 |
| GCST001236_19 | Blood pressure | 4.000000e-06 |
| GCST001489_1 | Percent mammographic density | 1.000000e-08 |
| GCST001787_10 | Colorectal cancer | 4.000000e-07 |
| GCST002456_6 | PR segment duration | 8.000000e-13 |
| GCST002535_5 | PR interval | 7.000000e-07 |
| GCST002630_14 | Systolic blood pressure | 2.000000e-07 |
| GCST002829_18 | Urate levels in overweight individuals | 2.000000e-06 |
| GCST003273_7 | Diastolic blood pressure | 8.000000e-10 |
| GCST003542_103 | Night sleep phenotypes | 2.000000e-06 |
| GCST003598_2 | QRS duration | 1.000000e-09 |
| GCST003598_31 | QRS duration | 3.000000e-10 |
| GCST003630_1 | Left ventricular QRS voltage | 8.000000e-08 |
| GCST003872_15 | QRS complex (12-leadsum) | 1.000000e-17 |
| GCST004093_38 | Prostate-specific antigen levels | 1.000000e-14 |
| GCST004136_17 | Methadone dose in opioid dependence | 2.000000e-06 |
| GCST004184_4 | Lung function (FVC) | 1.000000e-09 |
| GCST004280_3 | Diastolic blood pressure | 5.000000e-13 |
| GCST004280_72 | Diastolic blood pressure | 5.000000e-13 |
| GCST004988_47 | Breast cancer | 4.000000e-39 |
| GCST005588_5 | Idiopathic dilated cardiomyopathy | 7.000000e-06 |
| GCST005783_4 | Bone mineral density (lumbar spine) in inflammatory bowel disease | 1.000000e-06 |
| GCST005905_1 | Global electrical heterogeneity phenotypes | 2.000000e-24 |
| GCST005905_2 | Global electrical heterogeneity phenotypes | 2.000000e-16 |
| GCST005905_3 | Global electrical heterogeneity phenotypes | 1.000000e-14 |
| GCST005978_16 | Diastolic blood pressure | 4.000000e-13 |
EFO canonical traits (24, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006336 | diastolic blood pressure |
| EFO:0004462 | PR interval |
| EFO:0006335 | systolic blood pressure |
| EFO:0006340 | mean arterial pressure |
| EFO:0005095 | PR segment |
| EFO:0004531 | urate measurement |
| EFO:0007741 | R wave amplitude |
| EFO:0007742 | QRS amplitude |
| EFO:0005054 | QRS complex |
| EFO:0007907 | methadone dose measurement |
| EFO:0004312 | vital capacity |
| EFO:0009094 | idiopathic dilated cardiomyopathy |
| EFO:0007701 | spine bone mineral density |
| EFO:0004327 | electrocardiography |
| EFO:0004329 | alcohol drinking |
| EFO:0006527 | smoking status measurement |
| EFO:0009270 | heel bone mineral density |
| EFO:0004314 | forced expiratory volume |
| EFO:0008008 | lower urinary tract symptom |
| EFO:0010464 | beta-aminoisobutyric acid measurement |
| EFO:0010437 | triacylglycerol 58:10 measurement |
| EFO:0007614 | asthma exacerbation measurement |
| EFO:0004980 | appendicular lean mass |
| EFO:0004532 | serum gamma-glutamyl transferase measurement |
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D018270 | Carcinoma, Ductal, Breast | C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390 |
| D057090 | Eccrine Porocarcinoma | C04.557.470.200.025.500 |
| C536937 | Ulnar-mammary syndrome (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
98 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tetrachlorodibenzodioxin | affects expression, increases expression | 7 |
| bisphenol A | decreases methylation, increases expression, decreases expression, affects cotreatment | 5 |
| Valproic Acid | increases expression, affects cotreatment | 4 |
| (+)-JQ1 compound | decreases expression, affects expression, increases reaction, increases expression, affects cotreatment | 3 |
| Benzo(a)pyrene | increases methylation, decreases methylation, increases expression | 3 |
| Estradiol | affects expression, affects cotreatment, increases expression | 3 |
| bisphenol S | decreases methylation, affects cotreatment, decreases expression | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Tretinoin | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| propionaldehyde | increases expression | 1 |
| N(4)-hydroxycytidine | decreases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| terbufos | increases methylation | 1 |
| arsenite | increases methylation | 1 |
| afimoxifene | decreases reaction, increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| fenvalerate | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| 3,4,5,3’,4’-pentachlorobiphenyl | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, increases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| enzacamene | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| epigallocatechin gallate | increases expression, affects cotreatment | 1 |
| pentanal | increases expression | 1 |
Cellosaurus cell lines
9 cell lines: 6 cancer cell line, 3 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_1774 | TT | Cancer cell line | Female |
| CVCL_5098 | SNU-81 | Cancer cell line | Male |
| CVCL_A7A8 | SEES3-1V human TBX3, clone1 | Embryonic stem cell | Male |
| CVCL_A7A9 | SEES3-1V human TBX3, clone2 | Embryonic stem cell | Male |
| CVCL_A8L5 | SEES3-1V human TBX3, clone3 | Embryonic stem cell | Male |
| CVCL_D1ZA | Abcam A-549 TBX3 KO | Cancer cell line | Male |
| CVCL_D2DB | Abcam HCT 116 TBX3 KO | Cancer cell line | Male |
| CVCL_TR77 | HAP1 TBX3 (-) 1 | Cancer cell line | Male |
| CVCL_TR78 | HAP1 TBX3 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00076362 | PHASE4 | COMPLETED | Pediatric Hypothalamic Obesity |
| NCT00079547 | PHASE4 | COMPLETED | The Safety and Effectiveness of Low and High Carbohydrate Diets |
| NCT00115063 | PHASE4 | TERMINATED | LOSS- Louisiana Obese Subjects Study |
| NCT00134303 | PHASE4 | COMPLETED | Trial Comparing Metformin Versus Placebo in Non Alcoholic Steatohepatitis (NASH) Patients Receiving Bariatric Surgery for Obesity |
| NCT00143936 | PHASE4 | COMPLETED | The Safety and Efficacy of Low and High Carbohydrate Diets |
| NCT00143962 | PHASE4 | COMPLETED | Comparison of Two Approaches to Weight Loss Follow-Up Study |
| NCT00152360 | PHASE4 | COMPLETED | The Effect of Xenical on Weight and Risk Factors |
| NCT00176306 | PHASE4 | COMPLETED | Levofloxacin Pharmacokinetics (PK) in the Severely Obese |
| NCT00203450 | PHASE4 | COMPLETED | Zonegran for the Treatment of Weight Gain Associated With Psychotropic Medication Use: A Placebo-Controlled Trial |
| NCT00205504 | PHASE4 | COMPLETED | Oral Contraceptives in the Metabolic Syndrome |
| NCT00229229 | PHASE4 | TERMINATED | Comparison of 4 Diets in the Management of Overweight Patients With Vascular Disease |
| NCT00234988 | PHASE4 | COMPLETED | A Phase IV, Multi-Center, Open-Label Trial of Sibutramine in Combination With a Hypocaloric Diet in Obese and Overweight Thai Subjects. |
| NCT00264589 | PHASE4 | COMPLETED | Exercise Training and Cardiovascular Function in Obesity and in Type 2 Diabetes |
| NCT00288873 | PHASE4 | COMPLETED | Characterization of Hyperparathyroidism and Vitamin D Deficiency in Obesity |
| NCT00298857 | PHASE4 | TERMINATED | A Pharmacokinetic Study to Compare the Dosing of Valproic Acid in Subjects With Different Body Weights |
| NCT00315146 | PHASE4 | COMPLETED | Optimizing Body Composition for Function in Older Adults |
| NCT00319202 | PHASE4 | TERMINATED | Clinical Trial to Assess the Effects of Candesartan on the Carbohydrate Metabolism of Obese Subjects |
| NCT00327912 | PHASE4 | UNKNOWN | Laparoscopic Roux-en-Y Gastric Bypass Versus Laparoscopic Biliopancreatic Diversion (BPD)- Duodenal Switch for Superobesity |
| NCT00352287 | PHASE4 | COMPLETED | Study to Determine the Effects of Human Growth Hormone and Pioglitazone in Overweight, Prediabetic Adults |
| NCT00353054 | PHASE4 | COMPLETED | Effect of Calcium/Vitamin D Supplementation on Body Weight and Fat Loss. |
| NCT00390637 | PHASE4 | COMPLETED | Diet, Obesity and Genes (DiOGenes) |
| NCT00415688 | PHASE4 | COMPLETED | Lifestyle Modification for Obesity-Related Type 2 Diabetes |
| NCT00433641 | PHASE4 | COMPLETED | Weight Loss in Response to Sibutramine (MERIDIA) is Influenced by the Inherited Genes |
| NCT00440375 | PHASE4 | COMPLETED | Effects of Rosiglitazone on Bone in Postmenopausal Diabetic Women |
| NCT00453557 | PHASE4 | COMPLETED | Mechanism of Growth Hormone Effects on Adipose Tissue |
| NCT00456885 | PHASE4 | COMPLETED | The Effect of Exenatide on Weight and Hunger in Obese, Healthy Women |
| NCT00463112 | PHASE4 | COMPLETED | Effect of Diet Plus Sibutramine on Hormonal and Metabolic Features in Overweight and Obese Women With PCOS |
| NCT00512187 | PHASE4 | COMPLETED | Moderate Weight Loss Makes Obese Patients With Severe Chronic Plaque Psoriasis Responsive to Sub-Optimal Dose of Cyclosporine: an Investigator Blinded, Controlled, Randomized Clinical Trial |
| NCT00516919 | PHASE4 | COMPLETED | Study of Behavioral Weight Loss Therapy for Obesity and Binge Eating in Monolingual Hispanic Persons |
| NCT00522470 | PHASE4 | COMPLETED | Effects of Rosiglitazone on Serum Ghrelin and Peptide YY Levels |
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Related Atlas pages
- Associated diseases: heart conduction disease, ulnar-mammary syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): aortic valve disease 2, atrial fibrillation, benign prostatic hyperplasia, breast carcinoma, breast ductal adenocarcinoma, colorectal adenoma, eccrine porocarcinoma, heart conduction disease, hypertensive disorder, hypertrophic cardiomyopathy, obesity disorder, ulnar-mammary syndrome