TEF (Thyrotroph Embryonic Factor)
Transcriptional regulator involved in circadian rhythm and metabolic processes
Gene Information Card
| Symbol | TEF |
|---|---|
| Full Name | Thyrotroph Embryonic Factor |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.2 |
| NCBI Gene ID | 7008 ncbi.nlm.nih.gov/gene/7008 |
| Ensembl ID | ENSG00000100246 |
| UniProt ID | Q9NQ92 |
| OMIM ID | 600909 |
| HGNC ID | 11717 |
| Aliases | PAR bZIP transcription factor, TEF-1 |
Description
TEF (Thyrotroph Embryonic Factor) is a member of the PAR (proline and acidic amino acid-rich) basic leucine zipper (bZIP) family of transcription factors. It regulates gene expression in response to circadian rhythms and metabolic signals, particularly in the liver, pancreas, and other tissues. TEF binds to DNA as a homodimer or heterodimer with other PAR family members (DBP, HLF) and modulates target genes involved in glucose metabolism, detoxification, and cell cycle control.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Circadian rhythm sleep disorder | Altered TEF expression disrupts clock gene regulation | PMID: 19057619 |
| Type 2 diabetes | TEF influences hepatic glucose metabolism and insulin sensitivity | PMID: 23505219 |
| Liver cancer | Dysregulation of TEF contributes to hepatocellular carcinoma progression | PMID: 25620004 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Pancreas | 8.3 | Medium |
| Kidney | 6.1 | Medium |
| Heart | 3.2 | Low |
| Brain | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Liver cancer cell line |
| HEK293 | 7.5 | Embryonic kidney cells |
| HeLa | 4.2 | Cervical cancer cells |
| MCF7 | 2.1 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.502C>T | Missense | <0.01% | p.Arg168Cys; potential loss of DNA binding |
| c.763G>A | Missense | <0.01% | p.Gly255Ser; unknown significance |
| c.1000_1001insA | Frameshift | <0.01% | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein lacking bZIP domain, impairing DNA binding and transcriptional activation.
Gain of Function (GOF)
Not reported in TEF.
Dominant Negative (DN)
Missense mutations in the bZIP domain may form nonfunctional dimers, interfering with wild-type TEF activity.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Circadian rhythm pathway (KEGG: hsa04710)
• Transcriptional regulation by the bZIP transcription factors (Reactome: R-HSA-9616222)
Protein Summary
TEF encodes a 304-amino acid protein with a conserved bZIP domain at the C-terminus. It functions as a transcription factor that binds to D-box elements in target gene promoters. TEF is rhythmically expressed in the liver and other tissues, playing a key role in the circadian control of metabolism, including glucose homeostasis and detoxification. The protein interacts with other PAR bZIP factors and is regulated by post-translational modifications such as phosphorylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TEF Knockout HEK293 Cell Line | EDJ-KQ5177 | Human | 7008 | Details Get a Quote |
| TEF Knockout A-549 Cell Line | EDJ-KQ29436 | Human | 7008 | Details Get a Quote |
| TEF Knockout HCT 116 Cell Line | EDJ-KQ29437 | Human | 7008 | Details Get a Quote |
| TEF Knockout HeLa Cell Line | EDJ-KQ29438 | Human | 7008 | Details Get a Quote |
