PDCD10 Chromosome 3
Programmed cell death 10
Upload your DNA to see your personal genotypes for variants in PDCD10.
What This Gene Does
This gene encodes an evolutionarily conserved protein associated with cell apoptosis. The protein interacts with the serine/threonine protein kinase MST4 to modulate the extracellular signal-regulated kinase (ERK) pathway. It also interacts with and is phosphoryated by serine/threonine kinase 25, and is thought to function in a signaling pathway essential for vascular developent. Mutations in this gene are one cause of cerebral cavernous malformations, which are vascular malformations that cause seizures and cerebral hemorrhages. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"STRIPAK complex|CCM adhesion complex"
Locus Type
gene with protein product
Location
3q26.1
Ensembl
ENSG00000114209
Associated Conditions (10)
Cerebral cavernous malformation 3
PDCD10-related disorder
Cerebral cavernous malformation
Inborn genetic diseases
Cerebral cavernous malformation 1
Hemiparesis
Cerebral arteriovenous malformation
Seizure
Cavernous hemangioma
Hereditary cavernous hemangioma of brain
Key Variants
RS151267430
Conflicting classifications of pathogenicity
Cerebral cavernous malformation 3, PDCD10-related disorder, Cerebral cavernous malformation 3
Health Risk
RS1553762839
Likely pathogenic
Health Risk
RS1559944592
Likely pathogenic
Health Risk
RS1559944602
Likely pathogenic
Health Risk
RS1559952220
Likely pathogenic
Health Risk
RS1559952461
Likely pathogenic
Health Risk
RS1559952467
Likely pathogenic
Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
Health Risk
RS1559953791
Likely pathogenic
Health Risk
RS1559960758
Likely pathogenic
Health Risk
RS1719342163
Likely pathogenic
Health Risk
RS1719758355
Likely pathogenic
PDCD10-related disorder, PDCD10-related disorder
Health Risk
RS2475720278
Likely pathogenic
Health Risk
All Variants (61)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS151267430 | Health Risk | Conflicting classifications of pathogenicity | Cerebral cavernous malformation 3, PDCD10-related disorder, Cerebral cavernous malformation 3 |
| RS1553762839 | Health Risk | Likely pathogenic | — |
| RS1559944592 | Health Risk | Likely pathogenic | — |
| RS1559944602 | Health Risk | Likely pathogenic | — |
| RS1559952220 | Health Risk | Likely pathogenic | — |
| RS1559952461 | Health Risk | Likely pathogenic | — |
| RS1559952467 | Health Risk | Likely pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS1559953791 | Health Risk | Likely pathogenic | — |
| RS1559960758 | Health Risk | Likely pathogenic | — |
| RS1719342163 | Health Risk | Likely pathogenic | — |
| RS1719758355 | Health Risk | Likely pathogenic | PDCD10-related disorder, PDCD10-related disorder |
| RS2475720278 | Health Risk | Likely pathogenic | — |
| RS2475935599 | Health Risk | Likely pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS1057517786 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation, Cerebral cavernous malformation 3 |
| RS1303470125 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS1314521430 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS1357917630 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, PDCD10-related disorder, Cerebral cavernous malformation 3 |
| RS1404676956 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS1553758385 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS1553760888 | Health Risk | Pathogenic | — |
| RS1553760900 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, PDCD10-related disorder, Cerebral cavernous malformation 3 |
| RS1553761217 | Health Risk | Pathogenic | — |
| RS1553761266 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS1559945126 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS1559945136 | Health Risk | Pathogenic | — |
| RS1559952217 | Health Risk | Pathogenic | — |
| RS1559952317 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS1577317859 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS1577329627 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS1577329665 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS1719352298 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS1719762092 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation, Cerebral cavernous malformation 3 |
| RS1720729752 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1720895403 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS2108363227 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS2108373966 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS2108375192 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS2108403745 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS2108409355 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS2108409560 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS2108409594 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS2108409609 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, PDCD10-related disorder, Cerebral cavernous malformation 3 |
| RS2108438340 | Health Risk | Pathogenic | Cerebral cavernous malformation 1, Cerebral cavernous malformation 3, Cerebral cavernous malformation 1 |
| RS2108484048 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS2475629515 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS2475664566 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS2475720222 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS2475721715 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS2475731012 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS2475731172 | Health Risk | Pathogenic | Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |