Identity
HGNC
LOCATION
6p21.1
LOCUSID
ALIAS
B56D,B56delta,MRD35
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5528
MIM: 601646
HGNC: 9312
Ensembl: ENSG00000112640
Variants:
dbSNP: 5528
ClinVar: 5528
TCGA: ENSG00000112640
COSMIC: PPP2R5D
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA128406956 | fluorouracil | Chemical | ClinicalAnnotation | associated | PD | ||
| PA443560 | Breast Neoplasms | Disease | ClinicalAnnotation | associated | PD | ||
| PA445113 | Neutropenia | Disease | ClinicalAnnotation | associated | PD | ||
| PA449165 | cyclophosphamide | Chemical | ClinicalAnnotation | associated | PD | ||
| PA449476 | epirubicin | Chemical | ClinicalAnnotation | associated | PD |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36216457 | 2023 | Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis. | 8 |
| 36216457 | 2023 | Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis. | 8 |
| 34448180 | 2022 | PPP2R5D-Related Neurodevelopmental Disorder or Developmental and Epileptic Encephalopathy?: A Novel Phenotypic Description and Review of Published Cases. | 2 |
| 35257824 | 2022 | Rare missense variants in the PPP2R5D gene associated with Parkinson's disease in the Han Chinese population. | 1 |
| 35836293 | 2022 | PPP2R5D promotes hepatitis C virus infection by binding to viral NS5B and enhancing viral RNA replication. | 2 |
| 36403339 | 2022 | A novel nonsense mutation in PPP2R5D is associated with neurodevelopmental disorders and shows incomplete penetrance in a Chinese pedigree. | 2 |
| 34448180 | 2022 | PPP2R5D-Related Neurodevelopmental Disorder or Developmental and Epileptic Encephalopathy?: A Novel Phenotypic Description and Review of Published Cases. | 2 |
| 35257824 | 2022 | Rare missense variants in the PPP2R5D gene associated with Parkinson's disease in the Han Chinese population. | 1 |
| 35836293 | 2022 | PPP2R5D promotes hepatitis C virus infection by binding to viral NS5B and enhancing viral RNA replication. | 2 |
| 36403339 | 2022 | A novel nonsense mutation in PPP2R5D is associated with neurodevelopmental disorders and shows incomplete penetrance in a Chinese pedigree. | 2 |
| 33482199 | 2021 | A disorder-related variant (E420K) of a PP2A-regulatory subunit (PPP2R5D) causes constitutively active AKT-mTOR signaling and uncoordinated cell growth. | 13 |
| 34946857 | 2021 | Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis. | 3 |
| 33482199 | 2021 | A disorder-related variant (E420K) of a PP2A-regulatory subunit (PPP2R5D) causes constitutively active AKT-mTOR signaling and uncoordinated cell growth. | 13 |
| 34946857 | 2021 | Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis. | 3 |
| 32156701 | 2020 | Reduction of protein phosphatase 2A (PP2A) complexity reveals cellular functions and dephosphorylation motifs of the PP2A/B'δ holoenzyme. | 8 |
Citation
Dessen P
PPP2R5D (protein phosphatase 2 regulatory subunit Bdelta)
Atlas Genet Cytogenet Oncol Haematol. 2003-11-01
Online version: http://atlasgeneticsoncology.org/gene/41820/ppp2r5d-(protein-phosphatase-2-regulatory-subunit-bdelta)
