DEDD: Death Effector Domain Containing Protein
A key regulator of apoptosis and cell proliferation
Gene Information Card
| Symbol | DEDD |
|---|---|
| Full Name | Death Effector Domain Containing |
| Gene Type | Protein coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 9191 ncbi.nlm.nih.gov/gene/9191 |
| Ensembl ID | ENSG00000158796 |
| UniProt ID | O75618 |
| OMIM ID | 605163 |
| HGNC ID | 2755 |
| Aliases | DEDD1, DEFT, FLDED1 |
Description
DEDD (Death Effector Domain Containing) is a protein-coding gene that plays a role in apoptosis regulation. The encoded protein contains a death effector domain (DED) and is involved in the extrinsic apoptotic pathway by interacting with death receptors and caspases. DEDD also localizes to the nucleolus and may regulate cell cycle progression and transcription.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | DEDD overexpression may promote apoptosis resistance via altered caspase recruitment | PMID: 20406972 |
| Colorectal cancer | Reduced DEDD expression correlates with tumor progression and poor prognosis | PMID: 21750553 |
| Hepatocellular carcinoma | DEDD suppresses proliferation and induces apoptosis in liver cancer cells | PMID: 23429260 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 9.8 | Medium |
| Spleen | 8.2 | Medium |
| Brain | 3.1 | Low |
| Liver | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney, high expression |
| HeLa | 11.4 | Cervical cancer, moderate expression |
| MCF7 | 7.8 | Breast cancer, moderate expression |
| HepG2 | 5.3 | Hepatocellular carcinoma, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287C>T (p.Pro96Leu) | Missense | <0.01% | Unknown functional impact |
| c.421G>A (p.Glu141Lys) | Missense | <0.01% | Reported in COSMIC; potential loss of function |
| c.1A>G (p.Met1?) | Start loss | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss and truncating mutations likely impair DEDD-mediated apoptosis.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Missense variants in the DED domain may act dominant-negative by blocking caspase recruitment.
View complete mutation data：
Gene Ontology (GO)
| • apoptotic process | • death effector domain binding |
| • cysteine-type endopeptidase activator activity | • nucleolus |
| • cytoplasm | • protein homodimerization activity |
Pathways
• Extrinsic Apoptotic Pathway
• Death Receptor Signaling
• Caspase Activation via DED
Protein Summary
DEDD is a 305-amino acid protein containing an N-terminal death effector domain. It shuttles between the cytoplasm and nucleolus, where it may regulate transcription. DEDD interacts with procaspase-8 and FADD, promoting caspase activation and apoptosis. It also binds to nucleophosmin and modulates cell proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DEDD Knockout HEK293 Cell Line | EDJ-KQ50851 | Human | 9191 | Details Get a Quote |
| DEDD2 Knockout HEK293 Cell Line | EDJ-KQ52108 | Human | 162989 | Details Get a Quote |
| DEDD Knockout HeLa Cell Line | EDJ-KQ55101 | Human | 9191 | Details Get a Quote |
| DEDD2 Knockout HeLa Cell Line | EDJ-KQ58847 | Human | 162989 | Details Get a Quote |
| DEDD Knockout A-549 Cell Line | EDJ-KQ63581 | Human | 9191 | Details Get a Quote |
| DEDD2 Knockout A-549 Cell Line | EDJ-KQ67337 | Human | 162989 | Details Get a Quote |
| DEDD Knockout HCT 116 Cell Line | EDJ-KQ72048 | Human | 9191 | Details Get a Quote |
| DEDD2 Knockout HCT 116 Cell Line | EDJ-KQ75730 | Human | 162989 | Details Get a Quote |
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