PDCD2 Gene - Programmed Cell Death 2
A key regulator of apoptosis and cell cycle progression
Gene Information Card
| Symbol | PDCD2 |
|---|---|
| Full Name | Programmed Cell Death 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q27 |
| NCBI Gene ID | 5134 ncbi.nlm.nih.gov/gene/5134 |
| Ensembl ID | ENSG00000112294 |
| UniProt ID | Q16342 |
| OMIM ID | 170730 |
| HGNC ID | 8764 |
| Aliases | RP8, DKFZp686M0520 |
Description
PDCD2 (Programmed Cell Death 2) is a protein-coding gene located on chromosome 6q27. It encodes a nuclear protein involved in the regulation of apoptosis and cell cycle progression. PDCD2 is highly conserved across species and is thought to function as a transcriptional repressor, playing a role in programmed cell death and cellular differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | PDCD2 downregulation may promote cell survival and tumorigenesis by impairing apoptosis. | COSMIC, NCBI |
| Neurodegenerative disorders | Altered PDCD2 expression may affect neuronal cell death pathways. | NCBI, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Bone marrow | 9.8 | Medium |
| Brain | 6.1 | Low |
| Heart | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.0 | Cervical cancer cell line |
| K562 | 11.5 | Leukemia cell line |
| HEK293 | 9.2 | Embryonic kidney cell line |
| HepG2 | 8.7 | Liver cancer cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | Unknown functional impact |
| c.100C>T | Nonsense | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.100C>T) are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data:
Gene Ontology (GO)
| • apoptotic process | • negative regulation of cell cycle |
| • nucleus | • protein binding |
| • transcription repressor activity |
Pathways
• Apoptosis
• p53 signaling pathway
Protein Summary
The PDCD2 protein is a 344-amino acid nuclear protein with a conserved domain of unknown function (DUF). It is involved in apoptosis and cell cycle regulation, likely acting as a transcriptional repressor. PDCD2 interacts with various proteins, including those in the p53 pathway, and its expression is altered in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDCD2 Knockout HEK293 Cell Line | EDJ-KQ50505 | Human | 5134 | Details Get a Quote |
| PDCD2L Knockout HEK293 Cell Line | EDJ-KQ51836 | Human | 84306 | Details Get a Quote |
| PDCD2 Knockout HeLa Cell Line | EDJ-KQ54099 | Human | 5134 | Details Get a Quote |
| PDCD2L Knockout HeLa Cell Line | EDJ-KQ57578 | Human | 84306 | Details Get a Quote |
| PDCD2 Knockout A-549 Cell Line | EDJ-KQ62588 | Human | 5134 | Details Get a Quote |
| PDCD2L Knockout A-549 Cell Line | EDJ-KQ66074 | Human | 84306 | Details Get a Quote |
| PDCD2 Knockout HCT 116 Cell Line | EDJ-KQ71056 | Human | 5134 | Details Get a Quote |
| PDCD2L Knockout HCT 116 Cell Line | EDJ-KQ74496 | Human | 84306 | Details Get a Quote |