PPP2CA Chromosome 5
Protein phosphatase 2 catalytic subunit alpha
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What This Gene Does
This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. This gene encodes an alpha isoform of the catalytic subunit. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Protein phosphatase catalytic subunits|STRIPAK complex"
Locus Type
gene with protein product
Location
5q31.1
Ensembl
ENSG00000113575
Associated Conditions (3)
Houge-Janssens syndrome 3
Inborn genetic diseases
PPP2CA-related disorder
Key Variants
RS148071386
Conflicting classifications of pathogenicity
Houge-Janssens syndrome 3, Houge-Janssens syndrome 3
Health Risk
RS2149383419
Conflicting classifications of pathogenicity
Houge-Janssens syndrome 3, Houge-Janssens syndrome 3
Health Risk
RS780060316
Conflicting classifications of pathogenicity
Houge-Janssens syndrome 3, Houge-Janssens syndrome 3
Health Risk
RS1393362032
Likely pathogenic
Houge-Janssens syndrome 3, Houge-Janssens syndrome 3
Health Risk
RS1561733474
Likely pathogenic
Houge-Janssens syndrome 3, Houge-Janssens syndrome 3
Health Risk
RS1561734790
Likely pathogenic
Houge-Janssens syndrome 3, Houge-Janssens syndrome 3, Houge-Janssens syndrome 3
Health Risk
RS1580636613
Likely pathogenic
Houge-Janssens syndrome 3, Houge-Janssens syndrome 3
Health Risk
RS1580636665
Likely pathogenic
Houge-Janssens syndrome 3, Houge-Janssens syndrome 3
Health Risk
RS1580637673
Likely pathogenic
Houge-Janssens syndrome 3, Houge-Janssens syndrome 3
Health Risk
RS1580637688
Likely pathogenic
Houge-Janssens syndrome 3, Houge-Janssens syndrome 3
Health Risk
RS2149382671
Likely pathogenic
Health Risk
RS2149384599
Likely pathogenic
Health Risk
All Variants (37)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148071386 | Health Risk | Conflicting classifications of pathogenicity | Houge-Janssens syndrome 3, Houge-Janssens syndrome 3 |
| RS2149383419 | Health Risk | Conflicting classifications of pathogenicity | Houge-Janssens syndrome 3, Houge-Janssens syndrome 3 |
| RS780060316 | Health Risk | Conflicting classifications of pathogenicity | Houge-Janssens syndrome 3, Houge-Janssens syndrome 3 |
| RS1393362032 | Health Risk | Likely pathogenic | Houge-Janssens syndrome 3, Houge-Janssens syndrome 3 |
| RS1561733474 | Health Risk | Likely pathogenic | Houge-Janssens syndrome 3, Houge-Janssens syndrome 3 |
| RS1561734790 | Health Risk | Likely pathogenic | Houge-Janssens syndrome 3, Houge-Janssens syndrome 3, Houge-Janssens syndrome 3 |
| RS1580636613 | Health Risk | Likely pathogenic | Houge-Janssens syndrome 3, Houge-Janssens syndrome 3 |
| RS1580636665 | Health Risk | Likely pathogenic | Houge-Janssens syndrome 3, Houge-Janssens syndrome 3 |
| RS1580637673 | Health Risk | Likely pathogenic | Houge-Janssens syndrome 3, Houge-Janssens syndrome 3 |
| RS1580637688 | Health Risk | Likely pathogenic | Houge-Janssens syndrome 3, Houge-Janssens syndrome 3 |
| RS2149382671 | Health Risk | Likely pathogenic | — |
| RS2149384599 | Health Risk | Likely pathogenic | — |
| RS2481046871 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2481046894 | Health Risk | Likely pathogenic | PPP2CA-related disorder, PPP2CA-related disorder |
| RS2481048560 | Health Risk | Likely pathogenic | Houge-Janssens syndrome 3, Houge-Janssens syndrome 3 |
| RS2481049691 | Health Risk | Likely pathogenic | Houge-Janssens syndrome 3, Houge-Janssens syndrome 3 |
| RS2481058227 | Health Risk | Likely pathogenic | — |
| RS2481101671 | Health Risk | Likely pathogenic | — |
| RS764595667 | Health Risk | Likely pathogenic | Houge-Janssens syndrome 3, Houge-Janssens syndrome 3 |
| RS864622012 | Health Risk | Likely pathogenic | Houge-Janssens syndrome 3, Houge-Janssens syndrome 3 |
| RS972959777 | Health Risk | Likely pathogenic | PPP2CA-related disorder, PPP2CA-related disorder |
| RS1561734750 | Health Risk | Pathogenic | Houge-Janssens syndrome 3, Houge-Janssens syndrome 3 |
| RS1580636611 | Health Risk | Pathogenic | Houge-Janssens syndrome 3, Houge-Janssens syndrome 3 |
| RS2149382649 | Health Risk | Pathogenic | — |
| RS2149383143 | Health Risk | Pathogenic | Houge-Janssens syndrome 3, Houge-Janssens syndrome 3 |
| RS2149383148 | Health Risk | Pathogenic | — |
| RS2149383411 | Health Risk | Pathogenic | — |
| RS2149390330 | Health Risk | Pathogenic | — |
| RS2149390347 | Health Risk | Pathogenic | — |
| RS2149390365 | Health Risk | Pathogenic | — |
| RS2481046868 | Health Risk | Pathogenic | — |
| RS2481051363 | Health Risk | Pathogenic | Houge-Janssens syndrome 3, Houge-Janssens syndrome 3 |
| RS2481101940 | Health Risk | Pathogenic | — |
| RS777385847 | Health Risk | Pathogenic | — |
| RS1561737008 | Health Risk | Pathogenic/Likely pathogenic | Houge-Janssens syndrome 3, Houge-Janssens syndrome 3 |
| RS1580636668 | Health Risk | Pathogenic/Likely pathogenic | Houge-Janssens syndrome 3, Houge-Janssens syndrome 3 |
| RS915349596 | Health Risk | Pathogenic/Likely pathogenic | Houge-Janssens syndrome 3, Houge-Janssens syndrome 3 |