PDCD6 (Programmed Cell Death 6)
A calcium-binding protein involved in apoptosis and cell signaling
Gene Information Card
| Symbol | PDCD6 |
|---|---|
| Full Name | Programmed Cell Death 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 5p15.33 |
| NCBI Gene ID | 10016 ncbi.nlm.nih.gov/gene/10016 |
| Ensembl ID | ENSG00000113520 |
| UniProt ID | O75340 |
| OMIM ID | 601057 |
| HGNC ID | 8765 |
| Aliases | ALG-2, ALG2, MA-3, MGC111200 |
Description
PDCD6 (Programmed Cell Death 6) encodes a calcium-binding protein belonging to the penta-EF-hand protein family. It is involved in apoptosis, cell proliferation, and calcium-dependent signaling. The protein interacts with various partners, including ALIX and DAPK1, to mediate cell death pathways and endosomal trafficking.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of PDCD6 expression alters apoptotic balance, promoting tumorigenesis | PMID: 23455478, 25636874 |
| Alzheimer's disease | PDCD6 interacts with presenilin-1 and may influence amyloid-beta toxicity | PMID: 14517240 |
| Neurodegeneration | Altered calcium signaling via PDCD6 contributes to neuronal cell death | PMID: 19136968 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Heart | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.0 | Cervical cancer cell line |
| HEK293 | 11.5 | Embryonic kidney cells |
| A549 | 9.2 | Lung carcinoma cells |
| MCF7 | 13.8 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.236C>T (p.Pro79Leu) | Missense | <0.01% | Unknown functional impact |
| c.421G>A (p.Glu141Lys) | Missense | <0.01% | Reported in COSMIC; potential loss of calcium binding |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may impair calcium binding or protein interactions, reducing pro-apoptotic activity.
Gain of Function (GOF)
Not well documented; overexpression in some cancers suggests possible oncogenic role.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • apoptotic process (GO:0006915) |
| • positive regulation of apoptotic process (GO:0043065) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) |
Pathways
• Apoptosis (KEGG: hsa04210)
• Calcium signaling pathway (KEGG: hsa04020)
• ALG-2 interacting protein pathway (Reactome: R-HSA-6807070)
Protein Summary
PDCD6 encodes a 191-amino acid protein (ALG-2) with five EF-hand motifs that bind calcium. It is predominantly cytoplasmic and translocates to membranes upon calcium influx. ALG-2 participates in apoptosis by recruiting ALIX and other effectors to endosomal membranes, and it also modulates cell cycle progression. Its expression is ubiquitous, with higher levels in brain and liver.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDCD6IP Knockout HEK293 Cell Line | EDJ-KQ2146 | Human | 10015 | Details Get a Quote |
| PDCD6 Knockout HEK293 Cell Line | EDJ-KQ6863 | Human | 10016 | Details Get a Quote |
| PDCD6IP Knockout HCT 116 Cell Line | EDJ-KQ22324 | Human | 10015 | Details Get a Quote |
| PDCD6IP Knockout HeLa Cell Line | EDJ-KQ22325 | Human | 10015 | Details Get a Quote |
| PDCD6 Knockout A-549 Cell Line | EDJ-KQ31441 | Human | 10016 | Details Get a Quote |
| PDCD6 Knockout HCT 116 Cell Line | EDJ-KQ31442 | Human | 10016 | Details Get a Quote |
| PDCD6 Knockout HeLa Cell Line | EDJ-KQ31443 | Human | 10016 | Details Get a Quote |
| PDCD6IP Knockout A-549 Cell Line | EDJ-KQ63781 | Human | 10015 | Details Get a Quote |
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