PPP1R21
Protein Phosphatase 1 Regulatory Subunit 21
Gene Information Card
| Symbol | PPP1R21 |
|---|---|
| Full Name | Protein Phosphatase 1 Regulatory Subunit 21 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p13.3 |
| NCBI Gene ID | 129285 ncbi.nlm.nih.gov/gene/129285 |
| Ensembl ID | ENSG00000163002 |
| UniProt ID | Q5SNT2 |
| OMIM ID | 617395 |
| HGNC ID | 30595 |
| Aliases | C2orf80, FLJ32743 |
Description
PPP1R21 encodes a regulatory subunit of protein phosphatase 1 (PP1), involved in diverse cellular processes including cell division, glycogen metabolism, and neuronal signaling. Mutations in PPP1R21 are associated with an autosomal recessive neurodevelopmental disorder characterized by hypotonia, intellectual disability, and dysmorphic features.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia, intellectual disability, and dysmorphic features | Loss-of-function mutations in PPP1R21 disrupt PP1 regulation, impairing neuronal development and function. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Testis | 3.8 | Low |
| Kidney | 2.1 | Low |
| Liver | 1.5 | Low |
| Heart | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.0 | Moderate expression |
| SH-SY5Y | 3.5 | Neuronal cell line |
| HeLa | 2.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Ter) | Nonsense | Rare | Loss of function; premature stop codon |
| c.325G>A (p.Gly109Arg) | Missense | Rare | Likely damaging; disrupts PP1 binding |
| c.502_503del (p.Leu168ValfsTer5) | Frameshift | Rare | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent PPP1R21 protein, impairing PP1 regulation.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein phosphatase 1 binding | • regulation of phosphatase activity |
| • cytoplasm | • nucleus |
Pathways
• Protein phosphatase 1 regulatory network
• Neurodevelopmental signaling
Protein Summary
PPP1R21 is a 548-amino acid protein that functions as a regulatory subunit of protein phosphatase 1 (PP1). It contains a PP1-binding motif and is expressed in brain and other tissues. The protein is involved in neuronal development and cellular signaling. Loss-of-function mutations cause a neurodevelopmental disorder.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPP1R21 Knockout HEK293 Cell Line | EDJ-KQ9212 | Human | 129285 | Details Get a Quote |
| PPP1R21 Knockout A-549 Cell Line | EDJ-KQ35768 | Human | 129285 | Details Get a Quote |
| PPP1R21 Knockout HCT 116 Cell Line | EDJ-KQ35769 | Human | 129285 | Details Get a Quote |
| PPP1R21 Knockout HeLa Cell Line | EDJ-KQ35770 | Human | 129285 | Details Get a Quote |
| PPP1R21 Knockout HAP1 Cell Line | EDC08312 | Human | 129285 | Details Get a Quote |
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