Details for: TBX2

Gene ID: 6909

Symbol: TBX2

Ensembl ID: ENSG00000121068

Description: T-box transcription factor 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 35.3200
    Cell Significance Index: -14.5500
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 35.2451
    Cell Significance Index: -16.6400
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 7.8749
    Cell Significance Index: 48.7200
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 6.1859
    Cell Significance Index: 51.9600
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 3.1910
    Cell Significance Index: 29.3900
  • Cell Name: perivascular cell (CL4033054)
    Fold Change: 1.9514
    Cell Significance Index: 9.0100
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.7825
    Cell Significance Index: 20.7200
  • Cell Name: peg cell (CL4033014)
    Fold Change: 1.2777
    Cell Significance Index: 29.5200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.2435
    Cell Significance Index: 69.7800
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 1.1962
    Cell Significance Index: 9.2200
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.0338
    Cell Significance Index: 13.2400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.8539
    Cell Significance Index: 44.3600
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 0.6636
    Cell Significance Index: 3.0700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.6000
    Cell Significance Index: 108.1700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.5725
    Cell Significance Index: 73.3900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.5313
    Cell Significance Index: 11.1200
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.3777
    Cell Significance Index: 3.2100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.3577
    Cell Significance Index: 18.7800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2695
    Cell Significance Index: 53.4900
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.2235
    Cell Significance Index: 3.5900
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.1683
    Cell Significance Index: 2.0400
  • Cell Name: embryonic fibroblast (CL2000042)
    Fold Change: 0.1129
    Cell Significance Index: 0.5400
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.0981
    Cell Significance Index: 0.8900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0898
    Cell Significance Index: 40.7700
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.0655
    Cell Significance Index: 0.4900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0557
    Cell Significance Index: 104.8800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0487
    Cell Significance Index: 30.9200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0472
    Cell Significance Index: 6.4800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.0443
    Cell Significance Index: 1.2700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0385
    Cell Significance Index: 4.7400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0047
    Cell Significance Index: -3.5000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0051
    Cell Significance Index: -3.2100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0080
    Cell Significance Index: -4.5000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0101
    Cell Significance Index: -18.7000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0118
    Cell Significance Index: -18.2000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0131
    Cell Significance Index: -0.2200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0133
    Cell Significance Index: -18.1300
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: -0.0157
    Cell Significance Index: -0.2200
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.0181
    Cell Significance Index: -0.2800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0204
    Cell Significance Index: -2.9700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0204
    Cell Significance Index: -14.9500
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: -0.0214
    Cell Significance Index: -0.2500
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.0239
    Cell Significance Index: -0.3700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0246
    Cell Significance Index: -18.6300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0257
    Cell Significance Index: -14.0200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0360
    Cell Significance Index: -7.5800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0377
    Cell Significance Index: -6.4300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0426
    Cell Significance Index: -12.2700
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.0447
    Cell Significance Index: -0.2700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0478
    Cell Significance Index: -17.1600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0647
    Cell Significance Index: -6.7400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0708
    Cell Significance Index: -7.2300
  • Cell Name: mural cell (CL0008034)
    Fold Change: -0.0731
    Cell Significance Index: -0.8900
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0777
    Cell Significance Index: -3.9300
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: -0.0840
    Cell Significance Index: -0.8100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0855
    Cell Significance Index: -17.1500
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: -0.0858
    Cell Significance Index: -0.6600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1183
    Cell Significance Index: -13.7900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1228
    Cell Significance Index: -15.8600
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1236
    Cell Significance Index: -14.1100
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.1504
    Cell Significance Index: -1.8700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1526
    Cell Significance Index: -17.4900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1788
    Cell Significance Index: -11.2700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1958
    Cell Significance Index: -15.5100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2021
    Cell Significance Index: -5.5000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2131
    Cell Significance Index: -15.8800
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.2177
    Cell Significance Index: -8.9200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2287
    Cell Significance Index: -17.5500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2426
    Cell Significance Index: -6.7800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2455
    Cell Significance Index: -12.7900
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: -0.2491
    Cell Significance Index: -2.2700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.2548
    Cell Significance Index: -11.8800
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: -0.2638
    Cell Significance Index: -1.0100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2655
    Cell Significance Index: -17.8500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2689
    Cell Significance Index: -16.5300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2738
    Cell Significance Index: -16.7900
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.2883
    Cell Significance Index: -2.3800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2943
    Cell Significance Index: -13.8300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2976
    Cell Significance Index: -7.6500
  • Cell Name: melanocyte (CL0000148)
    Fold Change: -0.3319
    Cell Significance Index: -3.1100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3558
    Cell Significance Index: -10.4800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.3691
    Cell Significance Index: -16.7300
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: -0.3797
    Cell Significance Index: -4.2900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3902
    Cell Significance Index: -13.5600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.4099
    Cell Significance Index: -18.1300
  • Cell Name: osteoblast (CL0000062)
    Fold Change: -0.4236
    Cell Significance Index: -4.1100
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: -0.4313
    Cell Significance Index: -4.5700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.4508
    Cell Significance Index: -16.5500
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.4623
    Cell Significance Index: -6.4800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.4647
    Cell Significance Index: -12.2200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.4785
    Cell Significance Index: -18.1200
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.4814
    Cell Significance Index: -3.6800
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: -0.4837
    Cell Significance Index: -5.0900
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: -0.4842
    Cell Significance Index: -4.2700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.4940
    Cell Significance Index: -13.1900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.5175
    Cell Significance Index: -18.1300
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.5248
    Cell Significance Index: -16.6000
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.5292
    Cell Significance Index: -7.5200
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: -0.5389
    Cell Significance Index: -6.2400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.5434
    Cell Significance Index: -17.7900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** TBX2 is a highly conserved transcription factor, sharing significant sequence homology with other T-box family members. Its expression is widespread, with notable presence in embryonic tissues, including the heart, lungs, kidneys, and nervous system. The gene is characterized by its ability to bind to specific DNA sequences, modulating transcriptional activity through interactions with co-factors and other transcriptional regulators. TBX2 exhibits both activating and repressive properties, depending on the context and target genes. **Pathways and Functions:** TBX2 is involved in numerous developmental processes, including: 1. **Cardiac Development:** TBX2 regulates cardiac chamber formation, heart looping, and septation, highlighting its crucial role in cardiac morphogenesis. 2. **Atrioventricular Canal Development:** TBX2 is essential for the proper formation and morphogenesis of the atrioventricular canal, a critical structure in the developing heart. 3. **Apoptotic Process:** TBX2 modulates apoptosis, influencing cell fate specification and tissue homeostasis. 4. **Cell Fate Specification:** TBX2 regulates the differentiation of various cell types, including cardiac muscle cells, smooth muscle cells, and neural cells. 5. **Regulation of Transcription:** TBX2 interacts with RNA polymerase II and other transcriptional regulators, controlling the expression of target genes involved in development and tissue homeostasis. **Clinical Significance:** TBX2 has been implicated in several human diseases, including: 1. **Cardiac Anomalies:** Mutations in TBX2 have been associated with congenital heart defects, highlighting its critical role in cardiac development. 2. **Neurological Disorders:** TBX2 has been linked to neurodevelopmental disorders, such as autism and schizophrenia, suggesting its involvement in brain development and function. 3. **Cancer:** TBX2 has been shown to act as a tumor suppressor in certain cancer types, including lung and breast cancer. 4. **Developmental Delays:** TBX2 expression has been linked to developmental delays and intellectual disability, underscoring its importance in embryonic development. In conclusion, TBX2 is a multifaceted transcription factor with far-reaching implications for developmental processes and human disease. Further research is necessary to elucidate the precise mechanisms by which TBX2 exerts its effects, as well as its role in disease pathogenesis and treatment.

Genular Protein ID: 3017130191

Symbol: TBX2_HUMAN

Name: T-box transcription factor TBX2

UniProtKB Accession Codes:

Q13207 Q16424 Q7Z647

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 1 ExpressionAtlas 1 GO 57 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 2 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8530034

Title: Cloning and mapping of a human gene (TBX2) sharing a highly conserved protein motif with the Drosophila omb gene.

PubMed ID: 8530034

DOI: 10.1006/geno.1995.1139

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8597636

Title: Identification, characterization, and localization to chromosome 17q21-22 of the human TBX2 homolog, member of a conserved developmental gene family.

PubMed ID: 8597636

DOI: 10.1007/bf00539006

PubMed ID: 11111039

Title: Differential DNA binding and transcription modulation by three T-box proteins, T, TBX1 and TBX2.

PubMed ID: 11111039

DOI: 10.1016/s0378-1119(00)00417-0

PubMed ID: 11062467

Title: Senescence bypass screen identifies TBX2, which represses Cdkn2a (p19(ARF)) and is amplified in a subset of human breast cancers.

PubMed ID: 11062467

DOI: 10.1038/81583

PubMed ID: 12000749

Title: The T-box repressors TBX2 and TBX3 specifically regulate the tumor suppressor gene p14ARF via a variant T-site in the initiator.

PubMed ID: 12000749

DOI: 10.1074/jbc.m200403200

PubMed ID: 21403123

Title: Formation of the building plan of the human heart: morphogenesis, growth, and differentiation.

PubMed ID: 21403123

DOI: 10.1161/circulationaha.110.980607

PubMed ID: 22002537

Title: Physical and functional interaction between PML and TBX2 in the establishment of cellular senescence.

PubMed ID: 22002537

DOI: 10.1038/emboj.2011.370

PubMed ID: 22844464

Title: The T box transcription factor TBX2 promotes epithelial-mesenchymal transition and invasion of normal and malignant breast epithelial cells.

PubMed ID: 22844464

DOI: 10.1371/journal.pone.0041355

PubMed ID: 28910203

Title: The T-Box Transcription Factor TBX2 Regulates Cell Proliferation in the Retinal Pigment Epithelium.

PubMed ID: 28910203

DOI: 10.1080/02713683.2017.1338351

PubMed ID: 30599067

Title: Transcriptional repression of the ectodomain sheddase ADAM10 by TBX2 and potential implication for Alzheimer's disease.

PubMed ID: 30599067

DOI: 10.1007/s00018-018-2998-2

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 29726930

Title: Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.

PubMed ID: 29726930

DOI: 10.1093/hmg/ddy146

Sequence Information:

  • Length: 712
  • Mass: 75066
  • Checksum: 5C890DFC10FC3B68
  • Sequence:
    • MREPALAASA MAYHPFHAPR PADFPMSAFL AAAQPSFFPA LALPPGALAK PLPDPGLAGA 
AAAAAAAAAA AEAGLHVSAL GPHPPAAHLR SLKSLEPEDE VEDDPKVTLE AKELWDQFHK 
LGTEMVITKS GRRMFPPFKV RVSGLDKKAK YILLMDIVAA DDCRYKFHNS RWMVAGKADP 
EMPKRMYIHP DSPATGEQWM AKPVAFHKLK LTNNISDKHG FTILNSMHKY QPRFHIVRAN 
DILKLPYSTF RTYVFPETDF IAVTAYQNDK ITQLKIDNNP FAKGFRDTGN GRREKRKQLT 
LPSLRLYEEH CKPERDGAES DASSCDPPPA REPPTSPGAA PSPLRLHRAR AEEKSCAADS 
DPEPERLSEE RAGAPLGRSP APDSASPTRL TEPERARERR SPERGKEPAE SGGDGPFGLR 
SLEKERAEAR RKDEGRKEAA EGKEQGLAPL VVQTDSASPL GAGHLPGLAF SSHLHGQQFF 
GPLGAGQPLF LHPGQFTMGP GAFSAMGMGH LLASVAGGGN GGGGGPGTAA GLDAGGLGPA 
ASAASTAAPF PFHLSQHMLA SQGIPMPTFG GLFPYPYTYM AAAAAAASAL PATSAAAAAA 
AAAGSLSRSP FLGSARPRLR FSPYQIPVTI PPSTSLLTTG LASEGSKAAG GNSREPSPLP 
ELALRKVGAP SRGALSPSGS AKEAANELQS IQRLVSGLES QRALSPGRES PK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.