PPP4R3A Gene - Protein Phosphatase 4 Regulatory Subunit 3A
A regulatory subunit of protein phosphatase 4 involved in DNA damage response and cell cycle control
Gene Information Card
| Symbol | PPP4R3A |
|---|---|
| Full Name | Protein Phosphatase 4 Regulatory Subunit 3A |
| Gene Type | protein-coding |
| Chromosomal Location | 14q32.13 |
| NCBI Gene ID | 55671 ncbi.nlm.nih.gov/gene/55671 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q6IN85 |
| OMIM ID | 617416 |
| HGNC ID | 29363 |
| Aliases | KIAA2010, PP4R3A, PP4R3 |
Description
PPP4R3A encodes a regulatory subunit of protein phosphatase 4 (PP4), a serine/threonine phosphatase complex. The protein is involved in DNA damage checkpoint signaling, homologous recombination repair, and cell cycle regulation. It targets PP4 to specific substrates, including H2AX and RPA2, facilitating dephosphorylation events critical for genomic stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Dysregulation of PP4 complex leads to impaired DNA repair and genomic instability | PMID: 25910212 |
| Lung Cancer | Altered PPP4R3A expression correlates with poor prognosis and defective DNA damage response | PMID: 27507841 |
| Hepatocellular Carcinoma | PPP4R3A overexpression promotes cell proliferation via PP4-mediated signaling | PMID: 29367642 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone Marrow | 8.3 | Medium |
| Lymph Node | 6.1 | Low |
| Brain | 4.7 | Low |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.8 | Moderate expression |
| A549 | 7.4 | Low expression |
| MCF7 | 6.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Truncation, loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Premature stop, likely loss of function |
| c.890A>G (p.Asn297Ser) | Missense | 0.2% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (p.Arg412*, p.Trp189*) result in truncated proteins lacking the C-terminal domain required for PP4 binding and substrate targeting.
Gain of Function (GOF)
No gain-of-function mutations have been reported in PPP4R3A.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for PPP4R3A.
View complete mutation data：
Gene Ontology (GO)
Pathways
• DNA Damage Response (DDR) - Homologous Recombination Repair
• Cell Cycle Checkpoints - G2/M Transition
• PP4 Signaling Pathway
Protein Summary
PPP4R3A is a 783-amino acid regulatory subunit of the serine/threonine phosphatase PP4. It contains a PP4-binding domain and a C-terminal region that mediates substrate specificity. The protein localizes to the nucleus and is essential for dephosphorylation of γH2AX and RPA2 after DNA damage, promoting checkpoint recovery and homologous recombination. PPP4R3A also interacts with HDAC3 and other chromatin modifiers to regulate transcription.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPP4R3A Knockout HEK293 Cell Line | EDJ-KQ14863 | Human | 55671 | Details Get a Quote |
| PPP4R3A Knockout A-549 Cell Line | EDJ-KQ45313 | Human | 55671 | Details Get a Quote |
| PPP4R3A Knockout HCT 116 Cell Line | EDJ-KQ45314 | Human | 55671 | Details Get a Quote |
| PPP4R3A Knockout HeLa Cell Line | EDJ-KQ45315 | Human | 55671 | Details Get a Quote |
