TCF21: A Key Transcription Factor in Development and Disease
Comprehensive gene card for TCF21 (Transcription Factor 21), including expression, mutations, and associated diseases.
Gene Information Card
| Symbol | TCF21 |
|---|---|
| Full Name | Transcription Factor 21 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q23.2 |
| NCBI Gene ID | 6943 ncbi.nlm.nih.gov/gene/6943 |
| Ensembl ID | ENSG00000118526 |
| UniProt ID | O43680 |
| OMIM ID | 603306 |
| HGNC ID | 11659 |
| Aliases | POD-1, EPICARDIN, bHLHa23 |
Description
TCF21 (Transcription Factor 21) encodes a basic helix-loop-helix (bHLH) transcription factor that plays critical roles in organogenesis, particularly in the development of the kidney, lung, and heart. It regulates cell differentiation and migration, and is frequently silenced by hypermethylation in various cancers, acting as a tumor suppressor.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Wilms tumor | Loss of TCF21 expression due to promoter hypermethylation contributes to tumorigenesis. | PMID: 19029980 |
| Non-small cell lung cancer | TCF21 is frequently methylated and silenced, promoting epithelial-mesenchymal transition. | PMID: 21804538 |
| Gastric cancer | Hypermethylation of TCF21 promoter leads to reduced expression and correlates with poor prognosis. | PMID: 23359660 |
| Coronary artery disease | TCF21 variants are associated with risk of coronary artery disease; gene involved in vascular smooth muscle cell phenotype. | PMID: 21378990 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 14.5 | Medium |
| Lung | 11.2 | Medium |
| Heart | 8.3 | Low |
| Ovary | 6.1 | Low |
| Testis | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 2.1 | Low expression; often silenced by methylation |
| HEK 293 (embryonic kidney) | 8.9 | Moderate expression |
| MCF7 (breast cancer) | 0.8 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.97C>T (p.Arg33*) | Nonsense | <0.1% | Premature stop; loss of function |
| c.364G>A (p.Gly122Ser) | Missense | <0.1% | Unknown significance; rare in population |
| Promoter hypermethylation | Epigenetic | Variable | Silencing of TCF21 expression in tumors |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, as well as promoter hypermethylation leading to gene silencing, result in loss of TCF21 tumor suppressor activity.
Gain of Function (GOF)
No documented gain-of-function mutations for TCF21.
Dominant Negative (DN)
No evidence of dominant-negative mutations for TCF21.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Epithelial-mesenchymal transition (EMT) regulation
• Organogenesis signaling
Protein Summary
TCF21 is a 179-amino acid bHLH transcription factor that binds DNA as a homodimer or heterodimer with other bHLH proteins. It localizes to the nucleus and regulates target genes involved in cell fate determination and differentiation. The protein contains a basic DNA-binding domain and a helix-loop-helix dimerization domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TCF21 Knockout HEK293 Cell Line | EDJ-KQ5901 | Human | 6943 | Details Get a Quote |
| TCF21 Knockout HeLa Cell Line | EDJ-KQ54627 | Human | 6943 | Details Get a Quote |
| TCF21 Knockout A-549 Cell Line | EDJ-KQ63108 | Human | 6943 | Details Get a Quote |
| TCF21 Knockout HCT 116 Cell Line | EDJ-KQ71581 | Human | 6943 | Details Get a Quote |
