PRMT9 (Protein Arginine Methyltransferase 9)
A key regulator of spliceosome assembly and RNA processing
Gene Information Card
| Symbol | PRMT9 |
|---|---|
| Full Name | Protein Arginine Methyltransferase 9 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q31.23 |
| NCBI Gene ID | 90826 ncbi.nlm.nih.gov/gene/90826 |
| Ensembl ID | ENSG00000138614 |
| UniProt ID | Q6P2P2 |
| OMIM ID | 616125 |
| HGNC ID | 26021 |
| Aliases | PRMT10, HRMT1L3, Fbxo11 |
Description
PRMT9 encodes a type II protein arginine methyltransferase that catalyzes the symmetric dimethylation of arginine residues. It is primarily involved in spliceosome assembly by methylating the splicing factor SF3B2, thereby regulating pre-mRNA splicing. PRMT9 is also implicated in cell cycle progression and DNA damage response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | PRMT9 overexpression may promote tumorigenesis by altering splicing of oncogenes and tumor suppressors. | ClinVar, COSMIC |
| Intellectual disability | Rare PRMT9 variants have been associated with neurodevelopmental phenotypes. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.0 | High expression in embryonic kidney cells |
| HeLa | 7.5 | Moderate expression in cervical cancer cells |
| K562 | 6.8 | Moderate expression in leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown functional impact |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to truncated, non-functional protein.
Gain of Function (GOF)
Not well characterized; overexpression studies suggest potential oncogenic role.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Spliceosome (Reactome: R-HSA-72163)
• Arginine methylation (Reactome: R-HSA-8876198)
Protein Summary
PRMT9 is a 845-amino acid protein containing a methyltransferase domain and a tetratricopeptide repeat (TPR) domain. It symmetrically dimethylates arginine residues on target proteins, notably SF3B2, to facilitate spliceosome assembly. PRMT9 is predominantly nuclear and expressed in multiple tissues, with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRMT9 Knockout HEK293 Cell Line | EDJ-KQ10664 | Human | 90826 | Details Get a Quote |
| PRMT9 Knockout HCT 116 Cell Line | EDJ-KQ38176 | Human | 90826 | Details Get a Quote |
| PRMT9 Knockout HeLa Cell Line | EDJ-KQ38177 | Human | 90826 | Details Get a Quote |
| PRMT9 Knockout A-549 Cell Line | EDJ-KQ36872 | Human | 90826 | Details Get a Quote |
