PPP4R3C
protein-codingprotein phosphatase 4 regulatory subunit 3C, the group of Armadillo like helical domain containing
Gene summary
Predicted to enable protein phosphatase activator activity. Predicted to be involved in DNA damage response and regulation of double-strand break repair. Predicted to be located in nucleus. Predicted to be part of protein phosphatase 4 complex. Predicted to be active in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
- SMEK3P
- PPP4R3CP
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~3.1 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to PPP4R3C variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_207319.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 3 | 3 | ||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 3 | 0 | 3 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_997202.3 | 1 | MANE Select | |
| Ensembl | ENSP00000489770.1 | 1 | MANE Select |
dbNSFP Gene Annotations
Source: