Details for: TBX6

Gene ID: 6911

Symbol: TBX6

Ensembl ID: ENSG00000149922

Description: T-box transcription factor 6

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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 32.2736
    Cell Significance Index: -5.0200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 18.6877
    Cell Significance Index: -4.7400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 4.1121
    Cell Significance Index: -5.0700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.8738
    Cell Significance Index: 97.3400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 1.8030
    Cell Significance Index: -4.8300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.8268
    Cell Significance Index: 11.2800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 0.5117
    Cell Significance Index: -1.1200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3969
    Cell Significance Index: 75.5400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2854
    Cell Significance Index: 28.2400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1797
    Cell Significance Index: 10.7900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1770
    Cell Significance Index: 159.8200
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.1746
    Cell Significance Index: 2.5000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1518
    Cell Significance Index: 16.5200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1342
    Cell Significance Index: 3.7500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1313
    Cell Significance Index: 21.3600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1299
    Cell Significance Index: 5.8900
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.1220
    Cell Significance Index: 0.8100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.1110
    Cell Significance Index: 12.9400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1071
    Cell Significance Index: 2.3200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1037
    Cell Significance Index: 18.6900
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.1010
    Cell Significance Index: 0.9300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0882
    Cell Significance Index: 2.5400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0831
    Cell Significance Index: 10.2200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0679
    Cell Significance Index: 1.8200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0536
    Cell Significance Index: 3.7100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0454
    Cell Significance Index: 2.8600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0268
    Cell Significance Index: 3.8900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0198
    Cell Significance Index: 0.5400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0168
    Cell Significance Index: 3.3300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0149
    Cell Significance Index: 1.9100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0122
    Cell Significance Index: 0.4300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0077
    Cell Significance Index: 11.8900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0072
    Cell Significance Index: 0.1500
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.0050
    Cell Significance Index: 0.0700
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.0041
    Cell Significance Index: 0.0600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0032
    Cell Significance Index: 5.9100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0031
    Cell Significance Index: 2.1300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0030
    Cell Significance Index: 1.6200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0028
    Cell Significance Index: 1.2600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0012
    Cell Significance Index: 2.3100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0002
    Cell Significance Index: -0.0100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0012
    Cell Significance Index: -0.0300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0019
    Cell Significance Index: -0.0400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0026
    Cell Significance Index: -1.6200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0031
    Cell Significance Index: -1.1100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0040
    Cell Significance Index: -5.3800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0052
    Cell Significance Index: -3.8100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0062
    Cell Significance Index: -4.7300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0070
    Cell Significance Index: -1.4000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0070
    Cell Significance Index: -5.2100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0075
    Cell Significance Index: -0.3500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0080
    Cell Significance Index: -3.6200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0090
    Cell Significance Index: -5.0800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0100
    Cell Significance Index: -6.2700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0111
    Cell Significance Index: -3.1800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0111
    Cell Significance Index: -1.9000
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.0147
    Cell Significance Index: -0.2200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0156
    Cell Significance Index: -2.1400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0174
    Cell Significance Index: -1.2300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0176
    Cell Significance Index: -1.8000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0205
    Cell Significance Index: -2.3500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0242
    Cell Significance Index: -1.2700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0272
    Cell Significance Index: -3.5100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0272
    Cell Significance Index: -5.7300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0302
    Cell Significance Index: -1.8500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0330
    Cell Significance Index: -2.5300
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.0356
    Cell Significance Index: -0.4500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0358
    Cell Significance Index: -4.2200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0429
    Cell Significance Index: -3.2000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0466
    Cell Significance Index: -4.8500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0496
    Cell Significance Index: -1.5900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0573
    Cell Significance Index: -4.5400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0573
    Cell Significance Index: -2.7000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0635
    Cell Significance Index: -1.3300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0643
    Cell Significance Index: -3.9500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0731
    Cell Significance Index: -4.1000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0735
    Cell Significance Index: -4.9400
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.0752
    Cell Significance Index: -0.4900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0763
    Cell Significance Index: -3.9800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0784
    Cell Significance Index: -3.9600
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.0792
    Cell Significance Index: -1.1500
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.0798
    Cell Significance Index: -0.7900
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0821
    Cell Significance Index: -3.3700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0840
    Cell Significance Index: -2.9200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0923
    Cell Significance Index: -1.1000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0932
    Cell Significance Index: -2.3800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0968
    Cell Significance Index: -1.6200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0986
    Cell Significance Index: -2.1600
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.1053
    Cell Significance Index: -1.6900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1054
    Cell Significance Index: -2.7100
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1125
    Cell Significance Index: -4.1300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1144
    Cell Significance Index: -5.0600
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: -0.1158
    Cell Significance Index: -1.2000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1166
    Cell Significance Index: -3.1200
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.1182
    Cell Significance Index: -1.6800
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.1235
    Cell Significance Index: -1.9600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1236
    Cell Significance Index: -4.3300
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.1236
    Cell Significance Index: -1.7600
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.1287
    Cell Significance Index: -2.1200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1300
    Cell Significance Index: -3.8300

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:** 1. **T-Box Transcription Factor Structure:** TBX6 belongs to the T-box transcription factor family, characterized by the presence of a conserved T-box DNA-binding domain. 2. **Expression Patterns:** TBX6 is expressed in various cell types, including kidney proximal convoluted tubule epithelial cells, cardiac endothelial cells, and neural progenitor cells. 3. **Functional Specificity:** TBX6 regulates transcription by RNA polymerase II and negatively regulates neuron maturation and projection development. 4. **Pathway Involvement:** TBX6 is involved in various developmental pathways, including somitogenesis, vasculogenesis, and neural specification. **Pathways and Functions:** 1. **Anatomical Structure Morphogenesis:** TBX6 plays a crucial role in the development of the posterior neural plate and paraxial mesoderm. 2. **Cell Fate Specification:** TBX6 regulates the specification of mesodermal cell fates, including somitogenesis and vasculogenesis. 3. **Chromatin Regulation:** TBX6 interacts with chromatin to regulate gene expression and transcription. 4. **RNA Polymerase II Regulation:** TBX6 regulates transcription by RNA polymerase II, influencing the expression of target genes. 5. **Neuron Development:** TBX6 negatively regulates neuron maturation and projection development, highlighting its role in regulating neural differentiation. **Clinical Significance:** 1. **Congenital Heart Defects:** TBX6 has been implicated in the pathogenesis of congenital heart defects, highlighting its role in cardiac development. 2. **Cancer:** Recent studies have suggested that TBX6 may play a role in the development and progression of certain cancers, including colon cancer. 3. **Neurological Disorders:** TBX6's involvement in neural development and differentiation suggests its potential role in neurological disorders, such as autism and schizophrenia. 4. **Gene Therapy:** Understanding TBX6's function and regulation may provide insights into the development of gene therapies for diseases associated with TBX6 dysfunction. In conclusion, TBX6 is a complex transcription factor involved in various developmental processes and disease pathways. Further research is needed to fully elucidate its role in human health and disease, and to explore its potential as a therapeutic target.

Genular Protein ID: 4100885442

Symbol: TBX6_HUMAN

Name: T-box transcription factor TBX6

UniProtKB Accession Codes:

O95947 Q8TAS4 Q9HA44

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 7 Ensembl 4 ExpressionAtlas 1 GO 21 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRINTS 2 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 3 RefSeq 4 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 neXtProt 1

Citations:

PubMed ID: 9933572

Title: The human TBX6 gene: cloning and assignment to chromosome 16p11.2.

PubMed ID: 9933572

DOI: 10.1006/geno.1998.5646

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

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: 9888994

Title: Identification, mapping and phylogenomic analysis of four new human members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19.

PubMed ID: 9888994

DOI: 10.1006/geno.1998.5632

PubMed ID: 23335591

Title: Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

PubMed ID: 23335591

DOI: 10.1093/hmg/ddt012

PubMed ID: 25564734

Title: TBX6 null variants and a common hypomorphic allele in congenital scoliosis.

PubMed ID: 25564734

DOI: 10.1056/nejmoa1406829

PubMed ID: 28054739

Title: Compound heterozygosity for null mutations and a common hypomorphic risk haplotype in TBX6 causes congenital scoliosis.

PubMed ID: 28054739

DOI: 10.1002/humu.23168

Sequence Information:

  • Length: 436
  • Mass: 47045
  • Checksum: 649CDFB141B966F4
  • Sequence:
    • MYHPRELYPS LGAGYRLGPA QPGADSSFPP ALAEGYRYPE LDTPKLDCFL SGMEAAPRTL 
AAHPPLPLLP PAMGTEPAPS APEALHSLPG VSLSLENREL WKEFSSVGTE MIITKAGRRM 
FPACRVSVTG LDPEARYLFL LDVIPVDGAR YRWQGRRWEP SGKAEPRLPD RVYIHPDSPA 
TGAHWMRQPV SFHRVKLTNS TLDPHGHLIL HSMHKYQPRI HLVRAAQLCS QHWGGMASFR 
FPETTFISVT AYQNPQITQL KIAANPFAKG FRENGRNCKR ERDARVKRKL RGPEPAATEA 
YGSGDTPGGP CDSTLGGDIR ESDPEQAPAP GEATAAPAPL CGGPSAEAYL LHPAAFHGAP 
SHLPTRSPSF PEAPDSGRSA PYSAAFLELP HGSGGSGYPA APPAVPFAPH FLQGGPFPLP 
YTAPGGYLDV GSKPMY

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.