DDIT4L
DNA Damage Inducible Transcript 4 Like
Gene Information Card
| Symbol | DDIT4L |
|---|---|
| Full Name | DNA Damage Inducible Transcript 4 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 4q24 |
| NCBI Gene ID | 115265 ncbi.nlm.nih.gov/gene/115265 |
| Ensembl ID | ENSG00000164171 |
| UniProt ID | Q96EX3 |
| OMIM ID | 617297 |
| HGNC ID | 24654 |
| Aliases | REDD2, FLJ20500 |
Description
DDIT4L (DNA Damage Inducible Transcript 4 Like) is a protein-coding gene that encodes a member of the DDIT4 family. The protein is induced by DNA damage and stress signals and functions as a negative regulator of mTOR signaling by inhibiting the TSC1/TSC2 complex. DDIT4L is involved in cellular responses to hypoxia, energy deprivation, and growth factor withdrawal. It is expressed in various tissues and has been implicated in cancer and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered DDIT4L expression may dysregulate mTOR signaling, promoting cell growth and survival. | COSMIC; literature |
| Metabolic disorders | DDIT4L may influence insulin signaling and glucose metabolism via mTOR pathway modulation. | Literature; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 10.2 | Medium |
| Thyroid | 8.5 | Medium |
| Adipose tissue | 6.1 | Low |
| Brain | 4.3 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.0 | Embryonic kidney cells |
| HeLa | 9.5 | Cervical cancer cells |
| MCF7 | 7.8 | Breast cancer cells |
| A549 | 6.2 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | 0.01% (gnomAD) | Unknown functional effect |
| c.325G>A (p.Val109Ile) | Missense | 0.005% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • negative regulation of TOR signaling | • cellular response to DNA damage stimulus |
| • cellular response to hypoxia | • regulation of cell growth |
Pathways
• mTOR signaling pathway
• p53 signaling pathway
• HIF-1 signaling pathway
Protein Summary
The DDIT4L protein (REDD2) is a 232-amino acid protein that localizes to the cytoplasm. It contains a conserved N-terminal domain and a C-terminal region that interacts with 14-3-3 proteins. DDIT4L is induced by stress signals such as hypoxia and DNA damage, and it inhibits mTORC1 activity by promoting the TSC1/TSC2 complex. This regulation is critical for controlling cell growth, proliferation, and metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DDIT4L Knockout HEK293 Cell Line | EDJ-KQ7511 | Human | 115265 | 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 |
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