PPM1G: Protein Phosphatase, Mg2+/Mn2+ Dependent 1G
A key regulator of RNA processing, DNA damage response, and cell cycle progression.
Gene Information Card
| Symbol | PPM1G |
|---|---|
| Full Name | Protein Phosphatase, Mg2+/Mn2+ Dependent 1G |
| Gene Type | Protein coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 5496 ncbi.nlm.nih.gov/gene/5496 |
| Ensembl ID | ENSG00000115241 |
| UniProt ID | O15355 |
| OMIM ID | 603310 |
| HGNC ID | 9277 |
| Aliases | PP2C gamma, PP2CG, PPM1G |
Description
PPM1G encodes a member of the PP2C family of serine/threonine phosphatases. It is a magnesium/manganese-dependent enzyme that dephosphorylates substrates involved in pre-mRNA splicing, DNA damage signaling, and cell cycle control. PPM1G is localized to the nucleus and is essential for spliceosome assembly and the regulation of RNA polymerase II transcription.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Dysregulation of PPM1G alters splicing and DNA repair pathways, promoting tumorigenesis. | COSMIC; PubMed studies |
| Developmental disorders | Loss-of-function mutations impair RNA processing and cell cycle progression. | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Brain | 8.9 | Medium |
| Liver | 6.1 | Low |
| Heart | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.0 | High expression |
| HEK293 | 12.3 | High expression |
| K562 | 9.8 | Medium expression |
| HepG2 | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.1% | Altered phosphatase activity |
| c.250_251del (p.Leu84fs) | Frameshift | Rare | Loss of function |
| c.500A>G (p.Asn167Ser) | Missense | <0.1% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein lacking catalytic domain.
Gain of Function (GOF)
Not well documented; some missense variants may increase activity.
Dominant Negative (DN)
Not reported for PPM1G.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Spliceosome (Reactome: R-HSA-72163)
• DNA Damage/Telomere Stress Induced Senescence (Reactome: R-HSA-2559586)
• Regulation of mRNA splicing (Reactome: R-HSA-72172)
Protein Summary
PPM1G is a 546-amino acid nuclear phosphatase that removes phosphate groups from serine/threonine residues. It interacts with spliceosomal components and dephosphorylates the C-terminal domain of RNA polymerase II, influencing transcription elongation and splicing. It also dephosphorylates p53 and other DNA damage response proteins, thereby modulating cell cycle checkpoints and apoptosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPM1G Knockout HEK293 Cell Line | EDJ-KQ2246 | Human | 5496 | Details Get a Quote |
| PPM1G Knockout HCT 116 Cell Line | EDJ-KQ21236 | Human | 5496 | Details Get a Quote |
| PPM1G Knockout A-549 Cell Line | EDJ-KQ22549 | Human | 5496 | Details Get a Quote |
| PPM1G Knockout HeLa Cell Line | EDJ-KQ22551 | Human | 5496 | Details Get a Quote |
| PPM1G Knockout HAP1 Cell Line | EDC08227 | Human | 5496 | Details Get a Quote |
