PRMT7 Gene: Protein Arginine Methyltransferase 7
Genetics, Function, and Clinical Significance
Gene Information Card
| Symbol | PRMT7 |
|---|---|
| Full Name | Protein arginine methyltransferase 7 |
| Gene Type | protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 54496 ncbi.nlm.nih.gov/gene/54496 |
| Ensembl ID | ENSG00000132600 |
| UniProt ID | Q9NVM4 |
| OMIM ID | 610087 |
| HGNC ID | 23250 |
| Aliases | FLJ10647, MGC138687 |
Description
PRMT7 encodes a member of the protein arginine methyltransferase (PRMT) family. This enzyme catalyzes the transfer of methyl groups from S-adenosyl-L-methionine to arginine residues in various proteins, leading to mono- and symmetric dimethylation. PRMT7 is involved in multiple cellular processes including transcriptional regulation, RNA splicing, DNA damage repair, and signal transduction. Mutations in PRMT7 are associated with intellectual disability and short stature.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, autosomal recessive 69 | Loss-of-function mutations impair methylation of substrates, affecting neuronal development | ClinVar, OMIM |
| Short stature, intellectual disability, and seizures | Biallelic mutations lead to reduced enzyme activity, disrupting cellular processes | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Kidney | 8.1 | Low |
| Liver | 6.3 | Low |
| Heart | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 12.0 | Moderate expression |
| K562 | 9.5 | Low expression |
| MCF7 | 8.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.158G>A (p.Arg53Gln) | Missense | Rare | Reduced catalytic activity |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of protein expression |
| c.1180C>T (p.Arg394Ter) | Nonsense | Rare | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic mutations are loss-of-function, leading to reduced or absent methyltransferase activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative effects have been documented.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Arginine and proline metabolism
• Epigenetic regulation of gene expression
• RNA splicing
Protein Summary
PRMT7 is a 692-amino acid protein with a molecular weight of approximately 78 kDa. It contains a conserved methyltransferase domain and a dimerization domain. PRMT7 primarily catalyzes the formation of symmetric dimethylarginine (sDMA) on histone and non-histone proteins. It functions as a homodimer and requires S-adenosyl-L-methionine as a cofactor. PRMT7 is localized in the nucleus and cytoplasm, and its activity is regulated by post-translational modifications.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRMT7 Knockout HEK293 Cell Line | EDJ-KQ14155 | Human | 54496 | Details Get a Quote |
| PRMT7 Knockout A-549 Cell Line | EDJ-KQ45348 | Human | 54496 | Details Get a Quote |
| PRMT7 Knockout HCT 116 Cell Line | EDJ-KQ45349 | Human | 54496 | Details Get a Quote |
| PRMT7 Knockout HeLa Cell Line | EDJ-KQ45350 | Human | 54496 | Details Get a Quote |
