PRDM7: PR/SET Domain 7
A histone methyltransferase gene involved in transcriptional regulation and potential roles in cancer and developmental disorders.
Gene Information Card
| Symbol | PRDM7 |
|---|---|
| Full Name | PR/SET Domain 7 |
| Gene Type | Protein-coding |
| Chromosomal Location | 16q24.3 |
| NCBI Gene ID | 11105 ncbi.nlm.nih.gov/gene/11105 |
| Ensembl ID | ENSG00000103175 |
| UniProt ID | Q9NQV5 |
| OMIM ID | 609891 |
| HGNC ID | 9350 |
| Aliases | PFM7, PRDM7B, ZNF-PFM7 |
Description
PRDM7 (PR/SET Domain 7) is a protein-coding gene that encodes a histone methyltransferase belonging to the PRDM family. The protein contains a PR/SET domain and multiple zinc finger motifs, suggesting a role in chromatin remodeling and transcriptional regulation. PRDM7 is involved in cell differentiation and proliferation, and its dysregulation has been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered PRDM7 expression may affect histone methylation patterns, leading to aberrant gene expression and tumorigenesis. | COSMIC; literature reports |
| Developmental disorders | Mutations or dysregulation of PRDM7 may disrupt normal development, though specific mechanisms are not fully characterized. | OMIM; limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 5.2 | Low |
| Lung | 3.8 | Low |
| Liver | 2.1 | Not detected |
| Kidney | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.1 | Moderate expression |
| HeLa | 6.5 | Moderate expression |
| K562 | 4.3 | Low expression |
| MCF7 | 3.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | <0.1% | Unknown functional impact |
| c.567_568del | Frameshift | <0.01% | Predicted loss of function |
| c.890G>A | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to result in loss of function due to truncated or absent protein.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PRDM7.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for PRDM7.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • zinc ion binding (GO:0008270) | • histone-lysine N-methyltransferase activity (GO:0018024) |
| • histone lysine methylation (GO:0034968) |
Pathways
• Chromatin organization
• Histone methylation
Protein Summary
The PRDM7 protein is a 1,024-amino acid histone methyltransferase that localizes to the nucleus. It contains a PR/SET domain responsible for methyltransferase activity and multiple C2H2-type zinc fingers that mediate DNA binding and protein-protein interactions. PRDM7 is involved in transcriptional repression or activation depending on the cellular context, and its expression is enriched in testis and certain cancer cell lines.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRDM7 Knockout HEK293 Cell Line | EDJ-KQ7290 | Human | 11105 | Details Get a Quote |
| PRDM7 Knockout HeLa Cell Line | EDJ-KQ55572 | Human | 11105 | Details Get a Quote |
| PRDM7 Knockout A-549 Cell Line | EDJ-KQ64068 | Human | 11105 | Details Get a Quote |
| PRDM7 Knockout HCT 116 Cell Line | EDJ-KQ72518 | Human | 11105 | Details Get a Quote |
