PPP2R5D
Protein Phosphatase 2 Regulatory Subunit B' Delta
Gene Information Card
| Symbol | PPP2R5D |
|---|---|
| Full Name | Protein Phosphatase 2 Regulatory Subunit B' Delta |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 5528 ncbi.nlm.nih.gov/gene/5528 |
| Ensembl ID | ENSG00000112658 |
| UniProt ID | Q14738 |
| OMIM ID | 601646 |
| HGNC ID | 9311 |
| Aliases | B56D, B56delta, PP2A-B56D |
Description
PPP2R5D encodes the delta isoform of the B56 regulatory subunit of protein phosphatase 2A (PP2A). PP2A is a major serine/threonine phosphatase involved in cell cycle regulation, signal transduction, and neurodevelopment. Mutations in PPP2R5D cause autosomal dominant mental retardation type 35 (MRD35), characterized by intellectual disability, macrocephaly, and autism spectrum disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mental Retardation, Autosomal Dominant 35 (MRD35) | Gain-of-function mutations increase PP2A activity, disrupting neuronal signaling and development. | ClinVar, OMIM |
| Autism Spectrum Disorder | Recurrent de novo missense variants (e.g., p.Glu198Lys) associated with ASD. | ClinVar, PubMed |
| Macrocephaly | Overactive PP2A leads to altered mTOR pathway and increased brain growth. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 25.3 | High |
| Testis | 12.1 | Medium |
| Thyroid | 9.8 | Medium |
| Heart | 6.5 | Low |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.5 | Neuronal model |
| HEK293 (embryonic kidney) | 14.2 | Common overexpression system |
| HeLa (cervical carcinoma) | 11.0 | Cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.592G>A (p.Glu198Lys) | Missense | Recurrent | Gain-of-function; increased PP2A activity |
| c.592G>C (p.Glu198Gln) | Missense | Rare | Gain-of-function; similar phenotype |
| c.593A>G (p.Glu198Gly) | Missense | Rare | Gain-of-function; altered substrate specificity |
Mutation functional classification
Loss of Function (LOF)
Not reported as disease-causing; likely tolerated.
Gain of Function (GOF)
Yes. p.Glu198Lys and other missense variants increase PP2A holoenzyme activity.
Dominant Negative (DN)
Not described; current evidence supports gain-of-function.
View complete mutation data：
Gene Ontology (GO)
| • GO:0000159 – protein phosphatase type 2A complex | • GO:0005515 – protein binding |
| • GO:0007165 – signal transduction | • GO:0016311 – dephosphorylation |
| • GO:0043169 – cation binding |
Pathways
• PP2A-mediated dephosphorylation (Reactome: R-HSA-163615)
• Signaling by Receptor Tyrosine Kinases (Reactome: R-HSA-9006925)
• mTOR signaling (KEGG: hsa04150)
Protein Summary
PPP2R5D is a 602-amino acid regulatory subunit that targets PP2A to specific substrates. It contains a B56 domain essential for substrate recognition and PP2A holoenzyme assembly. The protein is highly expressed in brain and testis. Pathogenic missense mutations cluster in the B56 domain and enhance PP2A phosphatase activity, leading to neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPP2R5D Knockout HEK293 Cell Line | EDJ-KQ857 | Human | 5528 | Details Get a Quote |
| PPP2R5D Knockout HeLa Cell Line | EDJ-KQ18367 | Human | 5528 | Details Get a Quote |
| PPP2R5D Knockout A-549 Cell Line | EDJ-KQ19659 | Human | 5528 | Details Get a Quote |
| PPP2R5D Knockout HCT 116 Cell Line | EDJ-KQ19660 | Human | 5528 | Details Get a Quote |
| PPP2R5D Knockout HAP1 Cell Line | EDC07785 | Human | 5528 | Details Get a Quote |
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