PPP1R26
protein-codingprotein phosphatase 1 regulatory subunit 26, the group of Protein phosphatase 1 regulatory subunits
Gene summary
Predicted to enable protein phosphatase inhibitor activity. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]
- KIAA0649
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~9.8 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 PPP1R26 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_014811.5. 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 | 2 | 2 | ||||
| missense | 217 | 29 | 246 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 217 | 31 | 0 | 248 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_055626.3 | 1 | MANE Select | |
| Ensembl | ENSP00000349274.2 | 1 | MANE Select | |
| Ensembl | ENSP00000385826.3 | 1 | Standard | |
| Ensembl | ENSP00000385826.3 | 1 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- negative regulation of phosphatase activity
- negative regulation of phosphoprotein phosphatase activity
Molecular Function
- protein phosphatase inhibitor activity
- protein binding
Cellular Component
- nucleolus
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000356818
- Coding exons
- 1
- Length
- 9815
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.0718 | 744 | 739 | 1.01 | 0.0000471 | 7801 |
| Missense (PolyPhen) | 143 | 160.57 | 0.89056 | 1549 | ||
| Synonymous | -1.19 | 371 | 343 | 1.08 | 0.0000262 | 2549 |
| Loss of Function |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0 | 0.0 | absent |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes. May positively regulate cell proliferation. {ECO:0000269|PubMed:16053918, ECO:0000269|PubMed:19389623}.;
Recessive Scores
- pRec
- 0.100
Intolerance Scores
- RVIS EVS
- 0.49
- RVIS percentile EVS
- 79.48
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.114
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | High |
| Cancer | Medium | Medium | Medium |