TFEC Gene - Transcription Factor EC
A basic helix-loop-helix transcription factor involved in macrophage and osteoclast differentiation
Gene Information Card
| Symbol | TFEC |
|---|---|
| Full Name | Transcription Factor EC |
| Gene Type | Protein-coding |
| Chromosomal Location | 7q31.2 |
| NCBI Gene ID | 22797 ncbi.nlm.nih.gov/gene/22797 |
| Ensembl ID | ENSG00000105967 |
| UniProt ID | O14948 |
| OMIM ID | 601327 |
| HGNC ID | 11753 |
| Aliases | TFECL, bHLHe34, TCFEC |
Description
TFEC (Transcription Factor EC) is a member of the microphthalmia-associated transcription factor (MiTF) family, which includes MITF, TFE3, and TFEB. It encodes a basic helix-loop-helix leucine zipper (bHLH-Zip) transcription factor that binds E-box sequences to regulate gene expression. TFEC is involved in macrophage and osteoclast differentiation, lysosomal biogenesis, and immune response. It can form homodimers or heterodimers with other MiTF family members.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteopetrosis (autosomal recessive) | Loss-of-function mutations in TFEC impair osteoclast differentiation and function, leading to defective bone resorption. | PMID: 10615125; OMIM #259700 |
| Melanoma | TFEC overexpression or amplification may contribute to tumor progression by promoting cell survival and invasion. | COSMIC; PMID: 23542377 |
| Renal cell carcinoma (translocation-associated) | TFEC gene fusions (e.g., with PRCC) have been reported in rare cases of pediatric renal cell carcinoma. | PMID: 11555630; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lung | 8.3 | Low |
| Spleen | 7.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 15.2 | High expression; induced by PMA differentiation |
| U937 (histiocytic lymphoma) | 10.8 | Moderate expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
| A549 (lung carcinoma) | 1.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.550C>T (p.Arg184*) | Nonsense | <0.01% | Loss of function; truncation of bHLH domain |
| c.763_764insA (p.Thr255Asnfs*12) | Frameshift | <0.01% | Loss of function; premature stop codon |
| c.101G>A (p.Arg34Gln) | Missense | <0.01% | Unknown; may affect DNA binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the bHLH domain or cause nonsense-mediated decay, leading to loss of transcriptional activity.
Gain of Function (GOF)
Not well documented; amplification or overexpression in melanoma may act as an oncogenic driver.
Dominant Negative (DN)
Heterodimerization with other MiTF members may sequester functional partners, but no confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• MiTF/TFE signaling pathway
• Osteoclast differentiation (R-HSA-9006934)
• Lysosomal biogenesis and autophagy (R-HSA-9613829)
Protein Summary
TFEC is a 426-amino acid protein (UniProt O14948) containing a basic helix-loop-helix leucine zipper domain (bHLH-Zip) that mediates DNA binding and dimerization. It localizes to the nucleus and acts as a transcriptional activator. TFEC is highly expressed in macrophages and osteoclasts, where it regulates genes involved in lysosomal function, cell adhesion, and bone resorption. Post-translational modifications include phosphorylation, which modulates its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TFEC Knockout HEK293 Cell Line | EDJ-KQ7676 | Human | 22797 | Details Get a Quote |
| TFEC Knockout HeLa Cell Line | EDJ-KQ55637 | Human | 22797 | Details Get a Quote |
| TFEC Knockout A-549 Cell Line | EDJ-KQ64135 | Human | 22797 | Details Get a Quote |
| TFEC Knockout HCT 116 Cell Line | EDJ-KQ72581 | Human | 22797 | Details Get a Quote |
