PDCD10 (Programmed Cell Death 10)
A key regulator of apoptosis, cell proliferation, and vascular development; mutations cause cerebral cavernous malformations (CCM3).
Gene Information Card
| Symbol | PDCD10 |
|---|---|
| Full Name | Programmed Cell Death 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q26.1 |
| NCBI Gene ID | 11235 ncbi.nlm.nih.gov/gene/11235 |
| Ensembl ID | ENSG00000114209 |
| UniProt ID | Q9BUL8 |
| OMIM ID | 609118 |
| HGNC ID | 8761 |
| Aliases | CCM3, TFAR15 |
Description
PDCD10 (Programmed Cell Death 10) encodes a protein that plays a critical role in apoptosis, cell proliferation, and vascular integrity. It is a component of the STRIPAK complex and is essential for normal endothelial cell function. Loss-of-function mutations in PDCD10 are a major cause of cerebral cavernous malformations type 3 (CCM3), a vascular disorder characterized by leaky capillaries in the brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cerebral Cavernous Malformations 3 (CCM3) | Loss-of-function mutations in PDCD10 disrupt STRIPAK complex signaling, leading to abnormal endothelial cell junction formation and increased vascular permeability. | OMIM #609118; ClinVar; multiple case studies |
| Meningioma | Somatic mutations and reduced PDCD10 expression have been observed in meningioma, potentially contributing to tumorigenesis via dysregulated apoptosis. | COSMIC; literature reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression in embryonic kidney cells |
| HeLa | 10.1 | Moderate expression in cervical cancer cells |
| HUVEC | 18.7 | High expression in endothelial cells; relevant to CCM3 pathology |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.474_475delCA | Frameshift deletion | Rare (0.01%) | Loss of function; associated with CCM3 |
| c.1A>G (p.Met1?) | Start loss | Rare (0.005%) | Loss of function; associated with CCM3 |
| c.199C>T (p.Arg67*) | Nonsense | Rare (0.008%) | Loss of function; associated with CCM3 |
Mutation functional classification
Loss of Function (LOF)
Majority of PDCD10 mutations in CCM3 are loss-of-function (nonsense, frameshift, splice-site), leading to haploinsufficiency or complete loss of protein function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in PDCD10.
Dominant Negative (DN)
Not established; CCM3 inheritance is autosomal dominant with incomplete penetrance, likely due to haploinsufficiency.
View complete mutation data：
Gene Ontology (GO)
| • apoptotic process (GO:0006915) | • signal transduction (GO:0007165) |
| • negative regulation of apoptotic process (GO:0043066) | • protein binding (GO:0005515) |
| • Z disc (GO:0030018) | • cytosol (GO:0005829) |
Pathways
• STRIPAK complex signaling
• Apoptosis regulation
• Vascular endothelial growth factor (VEGF) signaling
Protein Summary
The PDCD10 protein (also known as CCM3) is a 212-amino-acid protein that contains a C-terminal focal adhesion targeting (FAT) homology domain. It interacts with multiple partners including STK24, STK25, and MST4, and is a core component of the STRIPAK complex. PDCD10 regulates apoptosis by modulating caspase activity and is essential for maintaining endothelial cell-cell junctions. Loss of PDCD10 leads to increased RhoA activity and actin stress fiber formation, contributing to the vascular lesions seen in CCM3.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDCD10 Knockout HEK293 Cell Line | EDJ-KQ2446 | Human | 11235 | Details Get a Quote |
| PDCD10 Knockout A-549 Cell Line | EDJ-KQ22965 | Human | 11235 | Details Get a Quote |
| PDCD10 Knockout HeLa Cell Line | EDJ-KQ22967 | Human | 11235 | Details Get a Quote |
| PDCD10 Knockout HCT 116 Cell Line | EDJ-KQ21642 | Human | 11235 | Details Get a Quote |
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