PPP3CA Chromosome 4
Protein phosphatase 3 catalytic subunit alpha
Upload your DNA to see your personal genotypes for variants in PPP3CA.
What This Gene Does
Enables several functions, including ATPase binding activity; calmodulin binding activity; and calmodulin-dependent protein phosphatase activity. Involved in several processes, including calcineurin-NFAT signaling cascade; negative regulation of angiotensin-activated signaling pathway; and peptidyl-serine dephosphorylation. Located in cytoplasm; cytoplasmic side of plasma membrane; and dendritic spine. Part of calcineurin complex. Implicated in developmental and epileptic encephalopathy 91. Biomarker of cholangiocarcinoma; focal segmental glomerulosclerosis; and schizophrenia. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Protein phosphatase catalytic subunits|MicroRNA protein coding host genes|Calcineurin subunits"
Locus Type
gene with protein product
Location
4q24
Ensembl
ENSG00000138814
Associated Conditions (11)
Inborn genetic diseases
Developmental and epileptic encephalopathy 91
Arthrogryposis
cleft palate
craniosynostosis
and impaired intellectual development
PPP3CA-related disorder
Epileptic encephalopathy
Seizure
Intellectual disability
See cases
Key Variants
RS145968865
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199874915
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 91, Arthrogryposis, cleft palate
Health Risk
RS2110225080
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 91, Arthrogryposis, cleft palate
Health Risk
RS2110249848
Conflicting classifications of pathogenicity
Health Risk
RS746412506
Conflicting classifications of pathogenicity
Arthrogryposis, cleft palate, craniosynostosis
Health Risk
RS765912235
Conflicting classifications of pathogenicity
Arthrogryposis, cleft palate, craniosynostosis
Health Risk
RS781181414
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1560570546
Likely pathogenic
Health Risk
RS1578382902
Likely pathogenic
Health Risk
RS1726628642
Likely pathogenic
Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91
Health Risk
RS199706529
Likely pathogenic
Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91
Health Risk
RS2110190526
Likely pathogenic
Health Risk
All Variants (41)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145968865 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199874915 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy 91, Arthrogryposis, cleft palate |
| RS2110225080 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy 91, Arthrogryposis, cleft palate |
| RS2110249848 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS746412506 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis, cleft palate, craniosynostosis |
| RS765912235 | Health Risk | Conflicting classifications of pathogenicity | Arthrogryposis, cleft palate, craniosynostosis |
| RS781181414 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1560570546 | Health Risk | Likely pathogenic | — |
| RS1578382902 | Health Risk | Likely pathogenic | — |
| RS1726628642 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91 |
| RS199706529 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91 |
| RS2110190526 | Health Risk | Likely pathogenic | — |
| RS2110210889 | Health Risk | Likely pathogenic | — |
| RS2110249810 | Health Risk | Likely pathogenic | — |
| RS2110253722 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy 91, Arthrogryposis, cleft palate |
| RS2110348535 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91 |
| RS2476203152 | Health Risk | Likely pathogenic | PPP3CA-related disorder, PPP3CA-related disorder |
| RS1553920376 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91 |
| RS1553920379 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91 |
| RS1553920383 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91 |
| RS1560567337 | Health Risk | Pathogenic | Arthrogryposis, cleft palate, craniosynostosis |
| RS1560567347 | Health Risk | Pathogenic | Arthrogryposis, cleft palate, craniosynostosis |
| RS1560570541 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91 |
| RS1578388765 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91 |
| RS2110205188 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91 |
| RS2110205238 | Health Risk | Pathogenic | — |
| RS2475928244 | Health Risk | Pathogenic | — |
| RS2475928286 | Health Risk | Pathogenic | — |
| RS2475951656 | Health Risk | Pathogenic | — |
| RS2476203153 | Health Risk | Pathogenic | — |
| RS2476210016 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91 |
| RS2476210177 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91 |
| RS2476297677 | Health Risk | Pathogenic | — |
| RS780035527 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91 |
| RS1334933549 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91 |
| RS1553920188 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1553920374 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91 |
| RS1553923787 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy 91, Inborn genetic diseases, Epileptic encephalopathy |
| RS1553925558 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy 91, Seizure, Intellectual disability |
| RS1726803653 | Health Risk | Pathogenic/Likely pathogenic | See cases, See cases |
| RS1727004803 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91 |