Details for: TBX1

Gene ID: 6899

Symbol: TBX1

Ensembl ID: ENSG00000184058

Description: T-box transcription factor 1

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: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 14.6663
    Cell Significance Index: -3.7200
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 7.1969
    Cell Significance Index: 61.1700
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 3.2888
    Cell Significance Index: -3.1400
  • Cell Name: surface ectodermal cell (CL0000114)
    Fold Change: 0.8357
    Cell Significance Index: 6.6000
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.7523
    Cell Significance Index: 7.7600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.6848
    Cell Significance Index: 67.7400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.6808
    Cell Significance Index: 301.0200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.6401
    Cell Significance Index: 33.2500
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.5253
    Cell Significance Index: 12.7300
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.4806
    Cell Significance Index: 5.4600
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.4038
    Cell Significance Index: 2.4200
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.2290
    Cell Significance Index: 3.2600
  • Cell Name: dermis microvascular lymphatic vessel endothelial cell (CL2000041)
    Fold Change: 0.1596
    Cell Significance Index: 0.7700
  • Cell Name: endothelial cell of respiratory system lymphatic vessel (CL0009086)
    Fold Change: 0.1339
    Cell Significance Index: 0.8400
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.0804
    Cell Significance Index: 0.7400
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.0728
    Cell Significance Index: 0.9000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0570
    Cell Significance Index: 7.0100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0446
    Cell Significance Index: 2.0800
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.0238
    Cell Significance Index: 0.5800
  • Cell Name: serous secreting cell of bronchus submucosal gland (CL4033005)
    Fold Change: 0.0150
    Cell Significance Index: 0.1500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0072
    Cell Significance Index: 1.3100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0035
    Cell Significance Index: 0.7000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0012
    Cell Significance Index: 0.4500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0007
    Cell Significance Index: -0.1300
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.0011
    Cell Significance Index: -0.0200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0017
    Cell Significance Index: -3.1900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0025
    Cell Significance Index: -3.9200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0025
    Cell Significance Index: -3.3500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0026
    Cell Significance Index: -4.7100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0040
    Cell Significance Index: -3.0100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0044
    Cell Significance Index: -2.4300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0048
    Cell Significance Index: -3.0400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0049
    Cell Significance Index: -3.6100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0055
    Cell Significance Index: -0.7000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0065
    Cell Significance Index: -3.6600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0076
    Cell Significance Index: -3.4400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0087
    Cell Significance Index: -2.5200
  • Cell Name: germ cell (CL0000586)
    Fold Change: -0.0126
    Cell Significance Index: -0.1000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0174
    Cell Significance Index: -3.6600
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.0182
    Cell Significance Index: -0.3000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0188
    Cell Significance Index: -2.7400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0209
    Cell Significance Index: -3.5700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0249
    Cell Significance Index: -1.2600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0255
    Cell Significance Index: -3.3000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0262
    Cell Significance Index: -1.6900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0268
    Cell Significance Index: -0.7300
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: -0.0273
    Cell Significance Index: -0.4400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0293
    Cell Significance Index: -4.0300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0294
    Cell Significance Index: -2.0800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0308
    Cell Significance Index: -3.5300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0310
    Cell Significance Index: -3.6100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0311
    Cell Significance Index: -3.6700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0315
    Cell Significance Index: -0.8500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0324
    Cell Significance Index: -3.3100
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.0331
    Cell Significance Index: -0.3900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0342
    Cell Significance Index: -2.5500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0344
    Cell Significance Index: -0.4700
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0356
    Cell Significance Index: -0.5100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0359
    Cell Significance Index: -1.0300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0367
    Cell Significance Index: -3.8200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0384
    Cell Significance Index: -2.9500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0401
    Cell Significance Index: -1.0300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0460
    Cell Significance Index: -3.0900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0468
    Cell Significance Index: -2.2000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0469
    Cell Significance Index: -2.4600
  • Cell Name: serous cell of epithelium of trachea (CL1000330)
    Fold Change: -0.0539
    Cell Significance Index: -0.4200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0582
    Cell Significance Index: -3.5800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0593
    Cell Significance Index: -3.0900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0690
    Cell Significance Index: -3.8700
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: -0.0722
    Cell Significance Index: -0.6200
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0729
    Cell Significance Index: -1.8200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0802
    Cell Significance Index: -2.8100
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: -0.0821
    Cell Significance Index: -0.5500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0855
    Cell Significance Index: -3.7800
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0865
    Cell Significance Index: -0.9400
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0867
    Cell Significance Index: -1.7400
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: -0.0888
    Cell Significance Index: -1.0800
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0915
    Cell Significance Index: -3.3600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0948
    Cell Significance Index: -3.3000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0996
    Cell Significance Index: -3.2600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0996
    Cell Significance Index: -3.7700
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.1015
    Cell Significance Index: -1.6100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1039
    Cell Significance Index: -3.3100
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.1078
    Cell Significance Index: -1.7300
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: -0.1095
    Cell Significance Index: -1.4100
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -0.1112
    Cell Significance Index: -1.4000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1120
    Cell Significance Index: -3.3000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1129
    Cell Significance Index: -3.0200
  • Cell Name: basal cell (CL0000646)
    Fold Change: -0.1151
    Cell Significance Index: -1.3700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1161
    Cell Significance Index: -3.1000
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.1177
    Cell Significance Index: -0.9600
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.1183
    Cell Significance Index: -1.7700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1206
    Cell Significance Index: -2.6400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1209
    Cell Significance Index: -3.4500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.1239
    Cell Significance Index: -3.6400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1306
    Cell Significance Index: -4.5900
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.1310
    Cell Significance Index: -3.2700
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.1332
    Cell Significance Index: -2.7100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1366
    Cell Significance Index: -2.9000
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1375
    Cell Significance Index: -3.4300

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** TBX1 is a member of the T-box family of transcription factors, characterized by the presence of a T-box domain, which is a conserved DNA-binding motif. The gene encodes a protein with a high degree of sequence similarity to other T-box transcription factors, such as TBX2 and TBX5. TBX1 is highly expressed in embryonic tissues, including the neural crest, mesoderm, and endoderm, and plays a critical role in regulating cell fate specification, differentiation, and proliferation during embryonic development. **Pathways and Functions** TBX1 is involved in various signaling pathways, including: 1. **Angiogenesis**: TBX1 regulates the expression of genes involved in angiogenesis, including VEGF and PDGF, which are essential for vascular development and maintenance. 2. **Anterior/posterior pattern specification**: TBX1 is involved in regulating the expression of genes involved in anterior/posterior patterning, including Hox genes and Wnt/β-catenin signaling. 3. **Aorta morphogenesis**: TBX1 regulates the expression of genes involved in aorta morphogenesis, including BMP and FGF signaling. 4. **Cardiogenesis**: TBX1 is involved in regulating the expression of genes involved in cardiogenesis, including MEF2 and BMP signaling. 5. **Cell fate specification**: TBX1 regulates the expression of genes involved in cell fate specification, including neural crest cell migration and differentiation. TBX1's functions can be broadly categorized into the following: 1. **Cell proliferation**: TBX1 regulates the expression of genes involved in cell proliferation, including cyclin-dependent kinases and CDK inhibitors. 2. **Cell differentiation**: TBX1 regulates the expression of genes involved in cell differentiation, including transcription factors and signaling molecules. 3. **Apoptosis**: TBX1 regulates the expression of genes involved in apoptosis, including Bcl-2 family members and caspases. **Clinical Significance** TBX1 is involved in several developmental disorders, including: 1. **DiGeorge syndrome**: TBX1 mutations are associated with DiGeorge syndrome, a congenital disorder characterized by thymic hypoplasia, parathyroid gland hypoplasia, and cardiac defects. 2. **22q11.2 deletion syndrome**: TBX1 is a critical gene involved in 22q11.2 deletion syndrome, a congenital disorder characterized by heart defects, cleft palate, and immunodeficiency. 3. **Congenital heart disease**: TBX1 mutations are associated with congenital heart disease, including atrial septal defects and ventricular septal defects. In summary, TBX1 is a critical gene involved in various developmental processes, including embryonic development, organogenesis, and cell fate specification. Its dysregulation is associated with several congenital disorders, highlighting the importance of TBX1 in human development and disease.

Genular Protein ID: 2009655687

Symbol: TBX1_HUMAN

Name: T-box transcription factor TBX1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9268629

Title: Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene.

PubMed ID: 9268629

DOI: 10.1006/geno.1997.4829

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: 19948535

Title: Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.

PubMed ID: 19948535

DOI: 10.1136/jmg.2009.070391

PubMed ID: 23186163

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

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 22095455

Title: Structure of the DNA-bound T-box domain of human TBX1, a transcription factor associated with the DiGeorge syndrome.

PubMed ID: 22095455

DOI: 10.1002/prot.23208

PubMed ID: 14585638

Title: Role of TBX1 in human del22q11.2 syndrome.

PubMed ID: 14585638

DOI: 10.1016/s0140-6736(03)14632-6

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 17273972

Title: Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.

PubMed ID: 17273972

DOI: 10.1086/511993

Sequence Information:

  • Length: 398
  • Mass: 43133
  • Checksum: FAF0F3FA0CDC6176
  • Sequence:
  • MHFSTVTRDM EAFTASSLSS LGAAGGFPGA ASPGADPYGP REPPPPPPRY DPCAAAAPGA 
    PGPPPPPHAY PFAPAAGAAT SAAAEPEGPG ASCAAAAKAP VKKNAKVAGV SVQLEMKALW 
    DEFNQLGTEM IVTKAGRRMF PTFQVKLFGM DPMADYMLLM DFVPVDDKRY RYAFHSSSWL 
    VAGKADPATP GRVHYHPDSP AKGAQWMKQI VSFDKLKLTN NLLDDNGHII LNSMHRYQPR 
    FHVVYVDPRK DSEKYAEENF KTFVFEETRF TAVTAYQNHR ITQLKIASNP FAKGFRDCDP 
    EDWPRNHRPG ALPLMSAFAR SRNPVASPTQ PSGTEKGGHV LKDKEVKAET SRNTPEREVE 
    LLRDAGGCVN LGLPCPAECQ PFNTQGLVAG RTAGDRLC

Genular Protein ID: 2422770352

Symbol: Q152R5_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

Sequence Information:

  • Length: 372
  • Mass: 40353
  • Checksum: DC6B41E913C8BB25
  • Sequence:
  • MHFSTVTRDM EAFTASSLSS LGAAGGFPGA ASPGADPYGP REPPPPPPRY DPCAAAAPGA 
    PGPPPPPHAY PFAPAAGAAT SAAAEPEGPG ASCAAAAKAP VKKNAKVAGV SVQLEMKALW 
    DEFNQLGTEM IVTKAGRRMF PTFQVKLFGM DPMADYMLLM DFVPVDDKRY RYAFHSSSWL 
    VAGKADPATP GRVHYHPDSP AKGAQWMKQI VSFDKLKLTN NLLDDNGHII LNSMHRYQPR 
    FHVVYVDPRK DSEKYAEENF KTFVFEETRF TAVTAYQNHR ITQLKIASNP FAKGFRDCDP 
    EDWPRNHRPG ALPLMSAFAR SRNPVASPTQ PSGTEKGLVT EGSGLQPGLL DVLLKPPSKK 
    SESLRPPHCK DT

Genular Protein ID: 9777091

Symbol: D9ZGG0_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 495
  • Mass: 52666
  • Checksum: FB0C150FEA6155FC
  • Sequence:
  • MHFSTVTRDM EAFTASSLSS LGAAGGFPGA ASPGADPYGP REPPPPPPRY DPCAAAAPGA 
    PGPPPPPHAY PFAPAAGAAT SAAAEPEGPG ASCAAAAKAP VKKNAKVAGV SVQLEMKALW 
    DEFNQLGTEM IVTKAGRRMF PTFQVKLFGM DPMADYMLLM DFVPVDDKRY RYAFHSSSWL 
    VAGKADPATP GRVHYHPDSP AKGAQWMKQI VSFDKLKLTN NLLDDNGHII LNSMHRYQPR 
    FHVVYVDPRK DSEKYAEENF KTFVFEETRF TAVTAYQNHR ITQLKIASNP FAKGFRDCDP 
    EDWPRNHRPG ALPLMSAFAR SRNPVASPTQ PSGTEKDAAE ARREFQRDAG GPAVLGDPAH 
    PPQLLARVLS PSLPGAGGAG GLVPLPGAPG GRPSPPNPEL RLEAPGASEP LHHHPYKYPA 
    AAYDHYLGAK SRPAPYPLPG LRGHGYHPHA HPHHHHHPVS PAAAAAAAAA AAAAAANMYS 
    SAGAAPPGSY DYCPR

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.