TCF15 Transcription Factor 15 (Basic Helix-Loop-Helix)
A bHLH transcription factor involved in mesodermal development and vascular smooth muscle differentiation.
Gene Information Card
| Symbol | TCF15 |
|---|---|
| Full Name | Transcription Factor 15 (Basic Helix-Loop-Helix) |
| Gene Type | Protein coding |
| Chromosomal Location | 20p13 |
| NCBI Gene ID | 6939 ncbi.nlm.nih.gov/gene/6939 |
| Ensembl ID | ENSG00000125878 |
| UniProt ID | Q12870 |
| OMIM ID | 601147 |
| HGNC ID | 11627 |
| Aliases | bHLHa40, paraxis, PX |
Description
TCF15 (Transcription Factor 15) encodes a basic helix-loop-helix (bHLH) transcription factor, also known as paraxis. It plays a critical role in mesodermal development, particularly in somitogenesis and the formation of the paraxial mesoderm. TCF15 is involved in regulating vascular smooth muscle cell differentiation and is expressed in developing somites and adult smooth muscle tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar | Not applicable | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Smooth muscle | 20.3 | Medium |
| Heart | 12.1 | Low |
| Skeletal muscle | 8.5 | Low |
| Lung | 6.2 | Low |
| Placenta | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Aortic smooth muscle cells | 25.0 | Primary cells |
| Coronary artery smooth muscle cells | 22.3 | Primary cells |
| Uterine smooth muscle cells | 18.7 | Primary cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No known loss-of-function mutations reported.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No known dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Not assigned to any specific pathway in Reactome or KEGG
Protein Summary
TCF15 (paraxis) is a 179-amino acid protein containing a basic helix-loop-helix (bHLH) domain. It forms homodimers or heterodimers with other bHLH proteins to regulate transcription. The protein is essential for proper somite formation and patterning during embryogenesis. In adults, it is expressed in smooth muscle tissues and contributes to the maintenance of vascular smooth muscle phenotype.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TCF15 Knockout HEK293 Cell Line | EDJ-KQ5902 | Human | 6939 | Details Get a Quote |
| TCF15 Knockout HeLa Cell Line | EDJ-KQ54626 | Human | 6939 | Details Get a Quote |
| TCF15 Knockout A-549 Cell Line | EDJ-KQ63107 | Human | 6939 | Details Get a Quote |
| TCF15 Knockout HCT 116 Cell Line | EDJ-KQ71580 | Human | 6939 | Details Get a Quote |
