HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TBX18
T-box transcription factor 18
Chromosome 6 Β· 6q14.3
NCBI Gene: 9096Ensembl: ENSG00000112837.17HGNC: HGNC:11595UniProt: O95935
28PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleoplasmprotein bindingregulation of SA node cell action potentialsinoatrial node cell fate commitmentcongenital hydronephrosiscongenital anomaly of kidney and urinary tractneurodegenerative diseaseAbnormality of the skeletal system
✦AI Summary

TBX18 is a T-box transcription factor that functions as a transcriptional repressor essential for the development of multiple organ systems. In cardiovascular development, TBX18 is expressed in smooth muscle cells of the aorta and is critical for normal aortic development and homeostasis 1. Embryonic conditional ablation of Tbx18 results in severe aortic malformations and lethality, while adult ablation causes milder phenotypes but exacerbates aortic dysfunction when combined with Marfan syndrome mutations 1. TBX18 also plays a crucial role in cardiac pacemaker function, as myocardial injection of TBX18 mRNA can generate de novo cardiac pacing in animal models of complete heart block 2. In urogenital development, TBX18 is essential for ureteral development, with induced ureteral stromal progenitors from pluripotent stem cells requiring functional TBX18 for proper development 3. The protein functions through direct DNA binding to regulate target genes, including immediate early genes like EGR1, FOS, and JUNB 1. Disease associations include congenital heart defects, where variants in the TBX18 promoter region significantly decrease transcriptional activity and are found in patients with ventricular septal defects 4, and congenital anomalies of kidney and urinary tract.

Sources cited
1
TBX18 expression in aortic smooth muscle cells and its role in aortic development and homeostasis
PMID: 41263385
2
TBX18 mRNA injection generates de novo cardiac pacing in heart block models
PMID: 38698155
3
TBX18 requirement for ureteral stromal progenitor development from pluripotent stem cells
PMID: 40541956
4
TBX18 promoter variants decrease transcriptional activity and associate with ventricular septal defects
PMID: 23749171
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
congenital hydronephrosisOpen Targets
0.76Strong
congenital anomaly of kidney and urinary tractOpen Targets
0.59Moderate
neurodegenerative diseaseOpen Targets
0.52Moderate
Abnormality of the skeletal systemOpen Targets
0.49Moderate
vertebral column disorderOpen Targets
0.33Weak
osteoarthritis, hipOpen Targets
0.28Weak
carpal tunnel syndromeOpen Targets
0.28Weak
Umbilical herniaOpen Targets
0.27Weak
Varicose veinsOpen Targets
0.26Weak
sleep apneaOpen Targets
0.25Weak
Hodgkins lymphomaOpen Targets
0.24Weak
anxiety disorderOpen Targets
0.22Weak
rectosigmoid junction neoplasmOpen Targets
0.22Weak
total hip arthroplastyOpen Targets
0.21Weak
vertebral joint diseaseOpen Targets
0.21Weak
osteoarthritis, kneeOpen Targets
0.20Weak
Genu valgumOpen Targets
0.20Weak
adolescent idiopathic scoliosisOpen Targets
0.20Weak
appendicitisOpen Targets
0.19Weak
facial morphologyOpen Targets
0.19Weak
Congenital anomalies of kidney and urinary tract 2UniProt
Pathogenic Variants6
NM_001080508.3(TBX18):c.1045C>T (p.Arg349Ter)Pathogenic
Congenital anomalies of kidney and urinary tract 2
β˜…β˜†β˜†β˜†2022β†’ Residue 349
NM_001080508.3(TBX18):c.692_693insT (p.Glu233fs)Pathogenic
Congenital anomalies of kidney and urinary tract 2
β˜…β˜†β˜†β˜†2021β†’ Residue 233
NM_001080508.3(TBX18):c.1654G>T (p.Gly552Ter)Likely pathogenic
Congenital anomalies of kidney and urinary tract 2
β˜†β˜†β˜†β˜†2024β†’ Residue 552
NM_001080508.3(TBX18):c.1802A>G (p.Gln601Arg)Likely pathogenic
Congenital anomaly of kidney and urinary tract
β˜†β˜†β˜†β˜†2018β†’ Residue 601
NM_001080508.3(TBX18):c.1010del (p.Gly337fs)Pathogenic
Congenital anomalies of kidney and urinary tract 2|Congenital anomaly of kidney and urinary tract
β˜†β˜†β˜†β˜†2018β†’ Residue 337
NM_001080508.3(TBX18):c.487A>G (p.Lys163Glu)Pathogenic
Congenital anomalies of kidney and urinary tract 2
β˜†β˜†β˜†β˜†2015β†’ Residue 163
View on ClinVar β†—
Related Genes
TCF21Protein interaction77%WT1Protein interaction77%SHOX2Protein interaction74%HCN4Protein interaction74%NKX2-5Protein interaction71%ISL1Protein interaction71%
Tissue Expression6 tissues
Heart
100%
Ovary
56%
Brain
14%
Liver
4%
Lung
3%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
TBX18TCF21WT1SHOX2HCN4NKX2-5ISL1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O95935
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.56Moderately Constrained
pLIβ“˜
0.70Intermediate
Observed/Expected LoF0.38 [0.27–0.56]
RankingsWhere TBX18 stands among ~20K protein-coding genes
  • #12,461of 20,598
    Most Researched28
  • #3,430of 5,498
    Most Pathogenic Variants6
  • #3,641of 17,882
    Most Constrained (LOEUF)0.56 Β· top quartile
Genes detectedTBX18
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Single-cell profiling of brain pericyte heterogeneity following ischemic stroke unveils distinct pericyte subtype-targeted neural reprogramming potential and its underlying mechanisms.
PMID: 39431007
Theranostics Β· 2024
1.00
2
Cardiac Transcription Factors and Regulatory Networks.
PMID: 38884718
Adv Exp Med Biol Β· 2024
0.90
3
Pericytes in the Retina.
PMID: 30937860
Adv Exp Med Biol Β· 2019
0.80
4
Transcription regulation by TBX18 in smooth muscle cells is essential for normal aortic development and homeostasis.
PMID: 41263385
Cardiovasc Res Β· 2025
0.70
5
In vitro generation of a ureteral organoid from pluripotent stem cells.
PMID: 40541956
Nat Commun Β· 2025
0.60