DEDD2
Death Effector Domain Containing 2
Gene Information Card
| Symbol | DEDD2 |
|---|---|
| Full Name | Death Effector Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 162989 ncbi.nlm.nih.gov/gene/162989 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q8WXF8 |
| OMIM ID | 617682 |
| HGNC ID | 24446 |
| Aliases | FLJ20073, DEDD2_HUMAN |
Description
DEDD2 (Death Effector Domain Containing 2) is a protein-coding gene located on chromosome 19q13.2. The encoded protein contains a death effector domain (DED) and is involved in the regulation of apoptosis, particularly through interactions with death receptors and caspase activation. DEDD2 may also play roles in cell cycle regulation and immune response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may modulate apoptosis and tumor progression | COSMIC, ClinVar |
| Neurodegenerative disorders | Potential dysregulation of apoptotic pathways | UniProt, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.2 | Low |
| Brain | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 10.5 | Moderate expression |
| K562 | 7.8 | Low expression |
| MCF7 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.301C>T | Missense | <0.1% | Unknown functional impact |
| c.454G>A | Missense | <0.1% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; potential reduction in apoptotic signaling
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • apoptotic process | • death effector domain binding |
| • cysteine-type endopeptidase activity involved in apoptotic process | • cytoplasm |
| • nucleus |
Pathways
• Apoptosis
• Death Receptor Signaling
Protein Summary
DEDD2 encodes a 305-amino acid protein containing a single death effector domain (DED). The protein localizes to both the cytoplasm and nucleus and is thought to modulate apoptosis by interacting with death receptors and caspases. It may also influence cell proliferation and differentiation. Expression is highest in testis and lymphoid tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DEDD2 Knockout HEK293 Cell Line | EDJ-KQ52108 | Human | 162989 | Details Get a Quote |
| DEDD2 Knockout HeLa Cell Line | EDJ-KQ58847 | Human | 162989 | Details Get a Quote |
| DEDD2 Knockout A-549 Cell Line | EDJ-KQ67337 | Human | 162989 | Details Get a Quote |
| DEDD2 Knockout HCT 116 Cell Line | EDJ-KQ75730 | Human | 162989 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
