DDIAS (DNA Damage Induced Apoptosis Suppressor)
A key regulator of DNA damage response and apoptosis suppression
Gene Information Card
| Symbol | DDIAS |
|---|---|
| Full Name | DNA damage induced apoptosis suppressor |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 220042 ncbi.nlm.nih.gov/gene/220042 |
| Ensembl ID | ENSG00000137710 |
| UniProt ID | Q9H6Z4 |
| OMIM ID | 614184 |
| HGNC ID | 24596 |
| Aliases | C11orf17, HOATZ, Noxin |
Description
DDIAS (DNA damage induced apoptosis suppressor) is a protein-coding gene located on chromosome 11q13.1. It encodes a nuclear protein that plays a critical role in suppressing apoptosis induced by DNA damage, particularly in response to genotoxic stress. DDIAS is involved in the DNA damage response pathway, promoting cell survival by inhibiting caspase activation and modulating p53 signaling. Overexpression of DDIAS has been observed in various cancers and is associated with resistance to chemotherapy and poor prognosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung cancer | Overexpression of DDIAS suppresses apoptosis and promotes chemoresistance | PMID: 23455478 |
| Breast cancer | DDIAS upregulation correlates with poor survival and resistance to DNA-damaging agents | PMID: 25670082 |
| Colorectal cancer | DDIAS promotes tumor growth by inhibiting DNA damage-induced apoptosis | PMID: 27153558 |
| Hepatocellular carcinoma | DDIAS expression is elevated and associated with aggressive tumor behavior | PMID: 28723891 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 6.1 | Low |
| Colon | 5.7 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 15.2 | High expression |
| MCF7 (breast cancer) | 10.8 | Moderate expression |
| HCT116 (colorectal cancer) | 9.5 | Moderate expression |
| HepG2 (liver cancer) | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | Rare | Unknown functional impact |
| c.1024G>A (p.Val342Met) | Missense | Rare | Unknown functional impact |
| c.1366C>T (p.Arg456Cys) | Missense | Rare | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in DDIAS.
Gain of Function (GOF)
Overexpression of wild-type DDIAS is associated with gain-of-function in cancer, but specific gain-of-function mutations have not been characterized.
Dominant Negative (DN)
No dominant-negative mutations reported for DDIAS.
View complete mutation data：
Gene Ontology (GO)
| • apoptotic process (GO:0006915) | • DNA damage response (GO:0006974) |
| • nucleus (GO:0005634) | • negative regulation of apoptotic process (GO:0043066) |
| • DNA repair (GO:0006281) |
Pathways
• DNA damage response pathway
• p53 signaling pathway
• Apoptosis modulation
Protein Summary
The DDIAS protein (UniProt Q9H6Z4) is a nuclear protein of 567 amino acids. It functions as a suppressor of DNA damage-induced apoptosis by inhibiting caspase-3 activation and modulating p53 transcriptional activity. DDIAS is highly expressed in testis and overexpressed in several cancers, where it contributes to chemoresistance. Its structure includes a conserved domain of unknown function (DUF) and nuclear localization signals.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DDIAS Knockout HEK293 Cell Line | EDJ-KQ8513 | Human | 220042 | Details Get a Quote |
| DDIAS Knockout A-549 Cell Line | EDJ-KQ34642 | Human | 220042 | Details Get a Quote |
| DDIAS Knockout HCT 116 Cell Line | EDJ-KQ34643 | Human | 220042 | Details Get a Quote |
| DDIAS Knockout HeLa Cell Line | EDC07549 | Human | 220042 | Details Get a Quote |
