PPP4R3B
protein-codingprotein phosphatase 4 regulatory subunit 3B, the group of Armadillo like helical domain containing
Gene summary
Predicted to enable protein phosphatase activator activity. Involved in regulation of double-strand break repair. Located in centrosome; chromatin; and nuclear speck. [provided by Alliance of Genome Resources, Jun 2026]
- SMEK2
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~71.6 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 PPP4R3B variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001122964.3. 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 | 95 | 95 | ||||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 4 | 4 | ||||
| Total | 0 | 0 | 103 | 0 | 0 | 103 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001116436.3 | 17 | MANE Select | |
| Ensembl | ENSP00000483228.1 | 17 | MANE Select | |
| RefSeq | NP_001269779.1 | 16 | Standard | |
| RefSeq | NP_065196.1 | 15 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Glucagon signaling pathway - Homo sapiens (human)
- Integrated Breast Cancer Pathway
Biological Process
- protein dephosphorylation
- regulation of lipid metabolic process
- positive regulation of gluconeogenesis
Cellular Component
- nucleoplasm
- cytoplasm
- centrosome
- nuclear speck
- protein phosphatase 4 complex
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Regulatory subunit of serine/threonine-protein phosphatase 4 (PP4). May regulate the activity of PPP4C at centrosomal microtubule organizing centers.;
Recessive Scores
- pRec
- 0.105
Intolerance Scores
- RVIS EVS
- -0.51
- RVIS percentile EVS
- 21.73