PRMT5 Gene (Protein Arginine Methyltransferase 5)
Key epigenetic regulator and therapeutic target in cancer and immune disorders
Gene Information Card
| Symbol | PRMT5 |
|---|---|
| Full Name | Protein Arginine Methyltransferase 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 10419 ncbi.nlm.nih.gov/gene/10419 |
| Ensembl ID | ENSG00000100462 |
| UniProt ID | O14744 |
| OMIM ID | 604045 |
| HGNC ID | 9375 |
| Aliases | SKB1, HRMT1L5, IBP72, JBP1 |
Description
PRMT5 encodes a type II protein arginine methyltransferase that catalyzes the symmetric dimethylation of arginine residues on histone and non-histone proteins. It plays a critical role in transcriptional regulation, RNA splicing, DNA damage repair, and signal transduction. PRMT5 is overexpressed in various cancers and is considered a promising therapeutic target.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression and dysregulation of PRMT5 lead to altered methylation of histones and tumor suppressor proteins, promoting cell proliferation and survival. | COSMIC, PubMed (multiple studies) |
| Lymphoma | PRMT5 overexpression in B-cells drives malignant transformation via epigenetic silencing of tumor suppressors. | COSMIC, PubMed |
| Inflammatory bowel disease (IBD) | PRMT5 regulates immune responses; altered expression may contribute to chronic inflammation. | ClinVar, PubMed |
| Neurodevelopmental disorders | Mutations in PRMT5 have been associated with intellectual disability and developmental delay. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | High (nTPM ~ 50) | High |
| Bone marrow | Medium (nTPM ~ 20) | Medium |
| Lung | Medium (nTPM ~ 15) | Medium |
| Brain | Low (nTPM ~ 5) | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical cancer) | High (nTPM ~ 30) | Overexpressed in cancer cell lines |
| A549 (lung cancer) | Medium (nTPM ~ 20) | Moderate expression |
| MCF7 (breast cancer) | High (nTPM ~ 25) | Overexpressed |
| K562 (leukemia) | Medium (nTPM ~ 18) | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | Rare (<0.1%) | Loss of function; associated with neurodevelopmental disorders |
| c.1585C>T (p.Arg529Trp) | Missense | Rare (<0.1%) | Loss of function; reported in ClinVar |
| Amplification | Copy number gain | Frequent in cancer (e.g., lymphoma) | Overexpression leading to oncogenic activation |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in PRMT5 impair its methyltransferase activity, leading to defective histone methylation and altered gene expression, contributing to developmental disorders.
Gain of Function (GOF)
Gain-of-function is primarily due to gene amplification or overexpression, resulting in excessive symmetric dimethylation of histones and oncogenic transformation.
Dominant Negative (DN)
Dominant-negative effects have been suggested for certain missense mutations that disrupt dimerization or substrate binding, interfering with wild-type PRMT5 function.
View complete mutation data：
Gene Ontology (GO)
| • Protein arginine N5-methyltransferase activity | • Histone methyltransferase activity (H4-R3 specific) |
| • RNA binding | • Methyltransferase activity |
| • Nucleus | • Cytoplasm |
| • Spliceosomal complex |
Pathways
• Arginine methylation
• Histone modification
• RNA splicing
• DNA damage response
• p53 signaling pathway
• Cell cycle regulation
Protein Summary
PRMT5 is a type II arginine methyltransferase that symmetrically dimethylates arginine residues on histones (e.g., H3R8, H4R3) and non-histone proteins (e.g., p53, EGFR). It regulates gene expression, RNA splicing, and DNA repair. PRMT5 is overexpressed in many cancers and is a target for small-molecule inhibitors in clinical trials.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRMT5 Knockout HAP1 Cell Line | EDJ-KQ78103 | Human | 10419 | Details Get a Quote |
| PRMT5 Knockout HEK293T Cell Line | EDJ-KQ78128 | Human | 10419 | Details Get a Quote |
| PRMT5 Knockout A-549 Cell Line | EDJ-KQ78129 | Human | 10419 | Details Get a Quote |
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