PPP2R5D Chromosome 6
Protein phosphatase 2 regulatory subunit B'delta
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What This Gene Does
The product of this gene belongs to the phosphatase 2A regulatory subunit B family. 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. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a delta isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Protein phosphatase 2 regulatory subunits|Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
6p21.1
Ensembl
ENSG00000112640
Associated Conditions (10)
Hogue-Janssens syndrome 1
PPP2R5D-related disorder
Inborn genetic diseases
Intellectual disability
Genetic developmental and epileptic encephalopathy
Neurodevelopmental disorder
Acute myeloid leukemia
Encephalopathy
Seizure
Neurodevelopmental abnormality
Key Variants
RS1031636348
Conflicting classifications of pathogenicity
Health Risk
RS139183911
Conflicting classifications of pathogenicity
Hogue-Janssens syndrome 1, PPP2R5D-related disorder, Hogue-Janssens syndrome 1
Health Risk
RS140136483
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, Inborn genetic diseases
Health Risk
RS140491750
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1762136390
Conflicting classifications of pathogenicity
Hogue-Janssens syndrome 1, Genetic developmental and epileptic encephalopathy, Hogue-Janssens syndrome 1
Health Risk
RS1762178779
Conflicting classifications of pathogenicity
Intellectual disability, Hogue-Janssens syndrome 1, Inborn genetic diseases
Health Risk
RS1762178916
Conflicting classifications of pathogenicity
Hogue-Janssens syndrome 1, Inborn genetic diseases, Neurodevelopmental disorder
Health Risk
RS199597619
Conflicting classifications of pathogenicity
Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1
Health Risk
RS2150245534
Conflicting classifications of pathogenicity
Health Risk
RS2150278804
Conflicting classifications of pathogenicity
Hogue-Janssens syndrome 1, Inborn genetic diseases, Hogue-Janssens syndrome 1
Health Risk
RS370244516
Conflicting classifications of pathogenicity
PPP2R5D-related disorder, PPP2R5D-related disorder
Health Risk
RS370834231
Conflicting classifications of pathogenicity
Inborn genetic diseases, PPP2R5D-related disorder, Inborn genetic diseases
Health Risk
All Variants (42)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1031636348 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139183911 | Health Risk | Conflicting classifications of pathogenicity | Hogue-Janssens syndrome 1, PPP2R5D-related disorder, Hogue-Janssens syndrome 1 |
| RS140136483 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, Inborn genetic diseases |
| RS140491750 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1762136390 | Health Risk | Conflicting classifications of pathogenicity | Hogue-Janssens syndrome 1, Genetic developmental and epileptic encephalopathy, Hogue-Janssens syndrome 1 |
| RS1762178779 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Hogue-Janssens syndrome 1, Inborn genetic diseases |
| RS1762178916 | Health Risk | Conflicting classifications of pathogenicity | Hogue-Janssens syndrome 1, Inborn genetic diseases, Neurodevelopmental disorder |
| RS199597619 | Health Risk | Conflicting classifications of pathogenicity | Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1 |
| RS2150245534 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2150278804 | Health Risk | Conflicting classifications of pathogenicity | Hogue-Janssens syndrome 1, Inborn genetic diseases, Hogue-Janssens syndrome 1 |
| RS370244516 | Health Risk | Conflicting classifications of pathogenicity | PPP2R5D-related disorder, PPP2R5D-related disorder |
| RS370834231 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, PPP2R5D-related disorder, Inborn genetic diseases |
| RS371525743 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375663526 | Health Risk | Conflicting classifications of pathogenicity | Hogue-Janssens syndrome 1, Inborn genetic diseases, Hogue-Janssens syndrome 1 |
| RS566067415 | Health Risk | Conflicting classifications of pathogenicity | PPP2R5D-related disorder, Inborn genetic diseases, PPP2R5D-related disorder |
| RS573662782 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS748607156 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS750265500 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS755243916 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Acute myeloid leukemia |
| RS767996020 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS780858279 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS957822115 | Health Risk | Conflicting classifications of pathogenicity | Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1 |
| RS1339608272 | Health Risk | Likely pathogenic | Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1 |
| RS1762135444 | Health Risk | Likely pathogenic | Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1 |
| RS2150278773 | Health Risk | Likely pathogenic | Encephalopathy, Encephalopathy |
| RS2150278800 | Health Risk | Likely pathogenic | — |
| RS2532473884 | Health Risk | Likely pathogenic | Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1 |
| RS2532475447 | Health Risk | Likely pathogenic | Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1 |
| RS2532476482 | Health Risk | Likely pathogenic | Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1 |
| RS1064794719 | Health Risk | Pathogenic | Hogue-Janssens syndrome 1, Inborn genetic diseases, Hogue-Janssens syndrome 1 |
| RS1762094766 | Health Risk | Pathogenic | Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1 |
| RS2150278470 | Health Risk | Pathogenic | Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1 |
| RS2150278805 | Health Risk | Pathogenic | Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1 |
| RS2150279781 | Health Risk | Pathogenic | — |
| RS757369209 | Health Risk | Pathogenic | Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1 |
| RS863225080 | Health Risk | Pathogenic | Inborn genetic diseases, Hogue-Janssens syndrome 1, Inborn genetic diseases |
| RS876657383 | Health Risk | Pathogenic | Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1 |
| RS1131691266 | Health Risk | Pathogenic/Likely pathogenic | Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1, Neurodevelopmental abnormality |
| RS2532475494 | Health Risk | Pathogenic/Likely pathogenic | Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1 |
| RS863225079 | Health Risk | Pathogenic/Likely pathogenic | Hogue-Janssens syndrome 1, Inborn genetic diseases, PPP2R5D-related disorder |
| RS863225081 | Health Risk | Pathogenic/Likely pathogenic | Hogue-Janssens syndrome 1, PPP2R5D-related disorder, Hogue-Janssens syndrome 1 |
| RS869320691 | Health Risk | Pathogenic/Likely pathogenic | Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1, Genetic developmental and epileptic encephalopathy |