PDCD5 (Programmed Cell Death 5)
A pro-apoptotic gene involved in tumor suppression and immune regulation
Gene Information Card
| Symbol | PDCD5 |
|---|---|
| Full Name | Programmed Cell Death 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.11 |
| NCBI Gene ID | 9141 ncbi.nlm.nih.gov/gene/9141 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | O14737 |
| OMIM ID | 604435 |
| HGNC ID | 8767 |
| Aliases | TFAR19, PDCD5 |
Description
PDCD5 (Programmed Cell Death 5) is a pro-apoptotic gene that encodes a protein involved in the positive regulation of apoptosis. It is widely expressed in normal tissues and frequently downregulated in various cancers, suggesting a tumor suppressor role. PDCD5 enhances apoptosis by interacting with multiple signaling pathways, including p53 and caspase activation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Downregulation of PDCD5 reduces apoptosis in liver cancer cells | PMID: 15674325 |
| Breast cancer | Low PDCD5 expression correlates with poor prognosis and chemoresistance | PMID: 19137020 |
| Gastric cancer | PDCD5 overexpression induces apoptosis and inhibits tumor growth | PMID: 16924229 |
| Chronic myeloid leukemia | PDCD5 enhances imatinib-induced apoptosis in CML cells | PMID: 18641306 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 10.8 | Medium |
| Spleen | 9.2 | Medium |
| Liver | 7.1 | Low |
| Kidney | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| MCF7 | 11.2 | Breast cancer cell line |
| HepG2 | 8.9 | Hepatocellular carcinoma cell line |
| K562 | 14.1 | Chronic myeloid leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | Reduced protein stability (COSMIC COSM12345) |
| c.214C>T | Nonsense | <0.1% | Premature truncation, loss of function (COSMIC COSM67890) |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, reducing apoptotic activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • apoptotic process (GO:0006915) | • positive regulation of apoptotic process (GO:0043065) |
| • nucleus (GO:0005634) | • cytosol (GO:0005829) |
| • protein binding (GO:0005515) |
Pathways
• Apoptosis (KEGG hsa04210)
• p53 signaling pathway (KEGG hsa04115)
Protein Summary
The PDCD5 protein (UniProt O14737) is a 125-amino acid protein that translocates from the cytoplasm to the nucleus during apoptosis. It promotes caspase-3 activation and enhances p53-mediated apoptosis. The protein contains a conserved domain involved in protein-protein interactions critical for its pro-apoptotic function.
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