DDIT4: DNA Damage Inducible Transcript 4
A stress-responsive gene regulating mTOR signaling and cellular adaptation
Gene Information Card
| Symbol | DDIT4 |
|---|---|
| Full Name | DNA Damage Inducible Transcript 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q22.1 |
| NCBI Gene ID | 54541 ncbi.nlm.nih.gov/gene/54541 |
| Ensembl ID | ENSG00000168209 |
| UniProt ID | Q9NX09 |
| OMIM ID | 607729 |
| HGNC ID | HNC:24944 |
| Aliases | REDD1, RTP801, Dig2 |
Description
DDIT4 (DNA Damage Inducible Transcript 4), also known as REDD1 or RTP801, is a stress-responsive gene that encodes a protein acting as a negative regulator of mTOR signaling. It is induced by hypoxia, DNA damage, and energy stress, and plays a critical role in cell survival, metabolism, and adaptation to adverse conditions. DDIT4 is implicated in cancer, neurodegenerative diseases, and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | DDIT4 overexpression inhibits mTORC1, promoting survival under hypoxia; dysregulation contributes to tumor growth and therapy resistance. | PMID: 19151780, COSMIC |
| Neurodegenerative diseases | DDIT4 upregulation in neurons leads to mTOR inhibition and impaired synaptic plasticity, linked to Alzheimer's and Parkinson's. | PMID: 23583380 |
| Metabolic disorders | DDIT4 modulates insulin signaling and glucose metabolism; altered expression associated with diabetes and obesity. | PMID: 21930775 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Liver | 6.1 | Low |
| Brain | 4.7 | Low |
| Heart | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.8 | Moderate expression |
| A549 | 9.5 | Moderate expression |
| MCF7 | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | Unknown effect |
| c.200C>T | Nonsense | <0.1% | Loss of function |
| c.350G>A | Missense | <0.1% | Unknown effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.200C>T) lead to truncated protein and loss of mTOR inhibitory activity.
Gain of Function (GOF)
Not well characterized; no common gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative mutations in DDIT4.
View complete mutation data：
Gene Ontology (GO)
| • apoptotic process (GO:0006915) | • regulation of autophagy (GO:0010506) |
| • TOR signaling (GO:0031929) | • response to hypoxia (GO:0001666) |
| • DNA damage response (GO:0006974) |
Pathways
• mTOR signaling pathway (Reactome: R-HSA-165159)
• Hypoxia-inducible factor (HIF) pathway (Reactome: R-HSA-1234176)
• p53 pathway (Reactome: R-HSA-3700989)
Protein Summary
The DDIT4 protein (REDD1) is a 232-amino acid protein that localizes to the cytoplasm and nucleus. It inhibits mTORC1 by promoting the association of TSC1/TSC2, thereby suppressing cell growth and proliferation under stress conditions. Its expression is tightly regulated by HIF1A, p53, and other transcription factors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DDIT4 Knockout HEK293 Cell Line | EDJ-KQ789 | Human | 54541 | Details Get a Quote |
| DDIT4L Knockout HEK293 Cell Line | EDJ-KQ7511 | Human | 115265 | Details Get a Quote |
| DDIT4 Knockout HCT 116 Cell Line | EDJ-KQ18281 | Human | 54541 | Details Get a Quote |
| DDIT4 Knockout HeLa Cell Line | EDJ-KQ18351 | Human | 54541 | Details Get a Quote |
| DDIT4 Knockout A-549 Cell Line | EDJ-KQ19500 | Human | 54541 | Details Get a Quote |
| DDIT4L Knockout A-549 Cell Line | EDJ-KQ32783 | Human | 115265 | Details Get a Quote |
| DDIT4L Knockout HCT 116 Cell Line | EDJ-KQ32784 | Human | 115265 | Details Get a Quote |
| DDIT4L Knockout HeLa Cell Line | EDJ-KQ57948 | Human | 115265 | Details Get a Quote |
| DDIT4L Knockout HAP1 Cell Line | EDC09101 | Human | 115265 | Details Get a Quote |
