PPP4R3C Gene - Protein Phosphatase 4 Regulatory Subunit 3C
A regulatory subunit of protein phosphatase 4 involved in DNA damage response and cellular signaling
Gene Information Card
| Symbol | PPP4R3C |
|---|---|
| Full Name | Protein Phosphatase 4 Regulatory Subunit 3C |
| Gene Type | protein-coding |
| Chromosomal Location | 1q31.3 |
| NCBI Gene ID | 22919 ncbi.nlm.nih.gov/gene/22919 |
| Ensembl ID | ENSG00000143106 |
| UniProt ID | Q6P4R8 |
| OMIM ID | 617428 |
| HGNC ID | 29378 |
| Aliases | KIAA2018, PP4R3C, PP4R3Calpha |
Description
PPP4R3C encodes a regulatory subunit of protein phosphatase 4 (PP4), a serine/threonine phosphatase complex involved in DNA damage checkpoint recovery, homologous recombination repair, and regulation of histone deacetylase activity. The protein contains a PP4-specific regulatory domain and interacts with the catalytic subunit PPP4C.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Dysregulation of PP4 complex may alter DNA repair pathways | COSMIC; PMID: 25329329 |
| Lung Cancer | Somatic mutations in PPP4R3C observed in tumor samples | COSMIC; PMID: 26619011 |
| Colorectal Cancer | Altered expression linked to genomic instability | COSMIC; PMID: 23563182 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.7 | Medium |
| Lung | 6.2 | Low |
| Liver | 4.1 | Low |
| Kidney | 5.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Moderate expression |
| HeLa | 7.4 | Moderate expression |
| A549 | 6.1 | Low expression |
| MCF7 | 5.3 | 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% | Loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function |
| c.890A>G (p.Gln297Arg) | Missense | <0.1% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (p.Arg412*, p.Trp189*) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein phosphatase type 4 complex (GO:0000159) | • protein binding (GO:0005515) |
| • nucleus (GO:0005634) | • DNA repair (GO:0006281) |
| • protein kinase binding (GO:0019901) |
Pathways
• DNA damage response (Reactome: R-HSA-5693565)
• PP4 complex signaling (Reactome: R-HSA-5654688)
Protein Summary
PPP4R3C is a 783-amino acid regulatory subunit of the PP4 phosphatase complex. It contains a PP4-specific domain that mediates interaction with the catalytic subunit PPP4C. The protein is involved in dephosphorylation of key DNA repair factors such as RPA2 and H2AX, and regulates chromatin remodeling during the DNA damage response. Expression is highest in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPP4R3C Knockout HEK293 Cell Line | EDJ-KQ9544 | Human | 139420 | Details Get a Quote |
