Details for: TBX18

Gene ID: 9096

Symbol: TBX18

Ensembl ID: ENSG00000112837

Description: T-box transcription factor 18

Associated with

  • Cell fate specification
    (GO:0001708)
  • Chromatin
    (GO:0000785)
  • Cochlea morphogenesis
    (GO:0090103)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Dna-binding transcription repressor activity, rna polymerase ii-specific
    (GO:0001227)
  • Morphogenesis of embryonic epithelium
    (GO:0016331)
  • Negative regulation of canonical wnt signaling pathway
    (GO:0090090)
  • Negative regulation of transcription by rna polymerase ii
    (GO:0000122)
  • Neural plate anterior/posterior regionalization
    (GO:0021999)
  • Nucleoplasm
    (GO:0005654)
  • Nucleus
    (GO:0005634)
  • Positive regulation of dna-templated transcription
    (GO:0045893)
  • Protein binding
    (GO:0005515)
  • Protein homodimerization activity
    (GO:0042803)
  • Regulation of sa node cell action potential
    (GO:0098907)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • Rna polymerase ii transcription repressor complex
    (GO:0090571)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)
  • Sinoatrial node cell development
    (GO:0060931)
  • Sinoatrial node cell fate commitment
    (GO:0060930)
  • Sinoatrial node development
    (GO:0003163)
  • Smooth muscle cell differentiation
    (GO:0051145)
  • Somitogenesis
    (GO:0001756)
  • Ureter development
    (GO:0072189)

Cells (max top 100)

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

  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 2.41
    Marker Score: 2,776
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.61
    Marker Score: 1,170
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 1.6
    Marker Score: 1,103
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.51
    Marker Score: 745
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 169,563
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.45
    Marker Score: 1,449
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 1.38
    Marker Score: 443
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.26
    Marker Score: 855
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.17
    Marker Score: 486
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4,816
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.14
    Marker Score: 7,574
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 1.11
    Marker Score: 433
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.09
    Marker Score: 502
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.08
    Marker Score: 682
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 796
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,829
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,054
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 508
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 461
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.95
    Marker Score: 1,151
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5,352
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.93
    Marker Score: 521
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 373
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2,743
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.91
    Marker Score: 5,494
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 325
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,291
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.87
    Marker Score: 1,803
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.85
    Marker Score: 1,727
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.83
    Marker Score: 1,565
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 709
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,261
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 396
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.73
    Marker Score: 350
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 461
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.67
    Marker Score: 403
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.65
    Marker Score: 315
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.62
    Marker Score: 411
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.62
    Marker Score: 142
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.57
    Marker Score: 454
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.55
    Marker Score: 147
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.55
    Marker Score: 231
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 173
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.54
    Marker Score: 8,481
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.52
    Marker Score: 909
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.49
    Marker Score: 258
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 0.48
    Marker Score: 260
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.46
    Marker Score: 894
  • Cell Name: inflammatory cell (CL0009002)
    Fold Change: 0.44
    Marker Score: 189
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.43
    Marker Score: 195
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.43
    Marker Score: 105
  • Cell Name: meningeal macrophage (CL0000879)
    Fold Change: 0.42
    Marker Score: 118
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 371
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.36
    Marker Score: 12,260
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.35
    Marker Score: 505
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.34
    Marker Score: 109
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.32
    Marker Score: 85
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.28
    Marker Score: 82
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.28
    Marker Score: 424
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.27
    Marker Score: 121
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.26
    Marker Score: 322
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.25
    Marker Score: 64
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.25
    Marker Score: 454
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.22
    Marker Score: 248
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.22
    Marker Score: 79
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 73
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.21
    Marker Score: 69
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.21
    Marker Score: 498
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.2
    Marker Score: 81
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.2
    Marker Score: 319
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.2
    Marker Score: 56
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.19
    Marker Score: 148
  • Cell Name: reticular cell (CL0000432)
    Fold Change: 0.19
    Marker Score: 69
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.19
    Marker Score: 124
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.19
    Marker Score: 100
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.18
    Marker Score: 105
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.17
    Marker Score: 168
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.17
    Marker Score: 54
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 42
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.17
    Marker Score: 100
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.15
    Marker Score: 73
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.15
    Marker Score: 39
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.15
    Marker Score: 87
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 0.15
    Marker Score: 54
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.14
    Marker Score: 101
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.13
    Marker Score: 71
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.13
    Marker Score: 74
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.13
    Marker Score: 127
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.12
    Marker Score: 130
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.12
    Marker Score: 81
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.12
    Marker Score: 31
  • Cell Name: tendon cell (CL0000388)
    Fold Change: 0.12
    Marker Score: 29
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.12
    Marker Score: 137
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.12
    Marker Score: 110
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.11
    Marker Score: 22
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.11
    Marker Score: 40

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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** TBX18 exhibits several key characteristics that define its functional role: 1. **T-box transcription factor**: TBX18 belongs to the T-box family of transcription factors, which contain a T-box DNA-binding domain and a C-terminal transcriptional activation domain. 2. **Cell-specific expression**: TBX18 is expressed in specific cell types, including vascular leptomeningeal cells, colon goblet cells, and enterocytes, highlighting its role in tissue-specific development and maintenance. 3. **Regulatory functions**: TBX18 has been shown to regulate various cellular processes, including morphogenesis, cell fate specification, and transcriptional regulation by RNA polymerase II. 4. **Involvement in development**: TBX18 has been implicated in the development of several tissues, including the cochlea, neural plate, and sinoatrial node, suggesting its role in embryonic development. **Pathways and Functions** TBX18 is involved in several cellular pathways, including: 1. **Cell fate specification**: TBX18 regulates the specification of cell fate during development, influencing the differentiation of cell types and tissue morphogenesis. 2. **Transcriptional regulation**: TBX18 regulates transcription by RNA polymerase II, influencing the expression of target genes involved in various cellular processes. 3. **Morphogenesis**: TBX18 plays a role in tissue morphogenesis, shaping the structure and organization of epithelial tissues. 4. **Chromatin regulation**: TBX18 interacts with chromatin to regulate gene expression and maintain tissue homeostasis. **Clinical Significance** TBX18 has been implicated in the development of several diseases, including: 1. **Hearing loss**: Mutations in TBX18 have been associated with hearing loss and cochlear abnormalities, highlighting its role in auditory development. 2. **Cardiovascular disease**: TBX18 has been implicated in the development of sinoatrial node cell fate commitment and sinoatrial node function, suggesting its role in cardiovascular disease. 3. **Cancer**: TBX18 has been shown to regulate the expression of genes involved in cell cycle regulation and apoptosis, suggesting its potential role in cancer development. In conclusion, TBX18 is a transcription factor that plays a crucial role in regulating cellular processes, including morphogenesis, cell fate specification, and transcriptional regulation. Its involvement in the development of several tissues and diseases highlights its clinical significance and potential as a therapeutic target for diseases related to epithelial tissue dysfunction.

Genular Protein ID: 3499963664

Symbol: TBX18_HUMAN

Name: T-box transcription factor TBX18

UniProtKB Accession Codes:

O95935 A2RU13 Q7Z6U4 Q9UJI6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 1 ExpressionAtlas 1 GO 24 Gene3D 1 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRINTS 1 PRO 1 PROSITE 3 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 1 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

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: 26235987

Title: Mutations in TBX18 cause dominant urinary tract malformations via transcriptional dysregulation of ureter development.

PubMed ID: 26235987

DOI: 10.1016/j.ajhg.2015.07.001

Sequence Information:

  • Length: 607
  • Mass: 64753
  • Checksum: AFDCE41154CA55DA
  • Sequence:
    • MAEKRRGSPC SMLSLKAHAF SVEALIGAEK QQQLQKKRRK LGAEEAAGAV DDGGCSRGGG 
AGEKGSSEGD EGAALPPPAG ATSGPARSGA DLERGAAGGC EDGFQQGASP LASPGGSPKG 
SPARSLARPG TPLPSPQAPR VDLQGAELWK RFHEIGTEMI ITKAGRRMFP AMRVKISGLD 
PHQQYYIAMD IVPVDNKRYR YVYHSSKWMV AGNADSPVPP RVYIHPDSPA SGETWMRQVI 
SFDKLKLTNN ELDDQGHIIL HSMHKYQPRV HVIRKDCGDD LSPIKPVPSG EGVKAFSFPE 
TVFTTVTAYQ NQQITRLKID RNPFAKGFRD SGRNRMGLEA LVESYAFWRP SLRTLTFEDI 
PGIPKQGNAS SSTLLQGTGN GVPATHPHLL SGSSCSSPAF HLGPNTSQLC SLAPADYSAC 
ARSGLTLNRY STSLAETYNR LTNQAGETFA PPRTPSYVGV SSSTSVNMSM GGTDGDTFSC 
PQTSLSMQIS GMSPQLQYIM PSPSSNAFAT NQTHQGSYNT FRLHSPCALY GYNFSTSPKL 
AASPEKIVSS QGSFLGSSPS GTMTDRQMLP PVEGVHLLSS GGQQSFFDSR TLGSLTLSSS 
QVSAHMV

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.