PRMT8: Protein Arginine Methyltransferase 8
A brain-specific type I arginine methyltransferase involved in neuronal differentiation and synaptic function
Gene Information Card
| Symbol | PRMT8 |
|---|---|
| Full Name | Protein Arginine Methyltransferase 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 12p13.32 |
| NCBI Gene ID | 56341 ncbi.nlm.nih.gov/gene/56341 |
| Ensembl ID | ENSG00000111218 |
| UniProt ID | Q9NR22 |
| OMIM ID | 610086 |
| HGNC ID | 9388 |
| Aliases | HRMT1L3, MGC138237 |
Description
PRMT8 encodes a type I arginine methyltransferase that catalyzes the formation of asymmetric dimethylarginine (ADMA) on target proteins. It is predominantly expressed in the brain, particularly in neurons, and plays a role in neuronal differentiation, synaptic plasticity, and RNA processing. PRMT8 is unique among PRMT family members due to its N-terminal myristoylation, which anchors it to the plasma membrane.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain anomalies | Loss-of-function mutations in PRMT8 impair neuronal differentiation and synaptic function | ClinVar; PMID: 32004447 |
| Amyotrophic lateral sclerosis (ALS) | PRMT8 overexpression may contribute to TDP-43 pathology via arginine methylation | PMID: 29670289 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | High |
| Brain (cerebellum) | 8.3 | Medium |
| Testis | 1.2 | Low |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | Neuronal model |
| U-87 MG (glioblastoma) | 6.2 | Glial model |
| HEK293 (embryonic kidney) | 0.3 | Non-neuronal control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.442C>T (p.Arg148*) | Nonsense | Rare | Loss of function; truncation of methyltransferase domain |
| c.1019G>A (p.Arg340His) | Missense | Rare | Reduced enzymatic activity; associated with neurodevelopmental disorder |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish methyltransferase activity, leading to impaired neuronal differentiation.
Gain of Function (GOF)
Not reported in PRMT8.
Dominant Negative (DN)
Not reported in PRMT8.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • plasma membrane (GO:0005886) | • protein-arginine N-methyltransferase activity (GO:0016274) |
| • peptidyl-arginine N-methylation (GO:0035246) | • nervous system development (GO:0007399) |
Pathways
• Arginine methylation (Reactome: R-HSA-3214842)
• RNA processing (Reactome: R-HSA-8953854)
Protein Summary
PRMT8 is a 394-amino acid protein with an N-terminal myristoylation site, a conserved methyltransferase domain, and a dimerization domain. It is primarily localized to the plasma membrane and nucleus. PRMT8 methylates arginine residues on proteins such as RNA-binding proteins and histones, influencing RNA metabolism and gene expression. Its brain-specific expression and role in neuronal development make it a key player in neurobiology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRMT8 Knockout HEK293 Cell Line | EDJ-KQ14895 | Human | 56341 | Details Get a Quote |
| PRMT8 Knockout HeLa Cell Line | EDJ-KQ56735 | Human | 56341 | Details Get a Quote |
| PRMT8 Knockout A-549 Cell Line | EDJ-KQ65239 | Human | 56341 | Details Get a Quote |
| PRMT8 Knockout HCT 116 Cell Line | EDJ-KQ73679 | Human | 56341 | Details Get a Quote |
