PRDM11
PR/SET Domain 11
Gene Information Card
| Symbol | PRDM11 |
|---|---|
| Full Name | PR/SET Domain 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p13 |
| NCBI Gene ID | 56981 ncbi.nlm.nih.gov/gene/56981 |
| Ensembl ID | ENSG00000148773 |
| UniProt ID | Q9NQV5 |
| OMIM ID | 616637 |
| HGNC ID | 29009 |
| Aliases | FLJ20036, MGC138290 |
Description
PRDM11 (PR/SET Domain 11) is a protein-coding gene that encodes a member of the PRDI-BF1 (positive regulatory domain I-binding factor 1) and RIZ (retinoblastoma protein-interacting zinc finger) family of transcription factors. The protein contains an N-terminal PR domain (a subtype of SET domain) and multiple C2H2-type zinc finger motifs, suggesting a role in chromatin remodeling and transcriptional regulation. PRDM11 is involved in cell differentiation and proliferation, and its dysregulation has been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diffuse Large B-Cell Lymphoma | PRDM11 is recurrently mutated in DLBCL, potentially affecting transcriptional repression of target genes. | COSMIC, ClinVar |
| Breast Cancer | PRDM11 expression is altered in breast cancer; may act as a tumor suppressor via epigenetic silencing. | NCBI Gene, COSMIC |
| Colorectal Cancer | Mutations and copy number alterations in PRDM11 have been observed in colorectal cancer samples. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 2.1 | Low |
| Lymph Node | 4.5 | Medium |
| Spleen | 3.8 | Medium |
| Bone Marrow | 1.2 | Low |
| Testis | 6.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 1.5 | Low expression |
| K562 | 3.2 | Moderate expression |
| MCF7 | 2.8 | Moderate expression |
| HepG2 | 0.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <1% | Loss of function |
| c.567_568insA (p.Glu190fs) | Frameshift | <1% | Loss of function |
| c.890G>A (p.Arg297Gln) | Missense | <1% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in PRDM11 are predicted to result in truncated or absent protein, leading to loss of transcriptional repressor activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PRDM11.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for PRDM11.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • protein binding (GO:0005515) |
| • nucleus (GO:0005634) | • regulation of transcription (GO:0006355) |
| • zinc ion binding (GO:0008270) | • protein ubiquitination (GO:0016567) |
| • histone lysine methylation (GO:0034968) |
Pathways
• Epigenetic regulation of gene expression
• Transcriptional misregulation in cancer
Protein Summary
PRDM11 is a 798-amino acid protein containing an N-terminal PR domain (a SET domain variant) and six C2H2-type zinc fingers. It localizes to the nucleus and functions as a transcriptional repressor, likely through histone methyltransferase activity and recruitment of chromatin-modifying complexes. PRDM11 is involved in cell cycle control and differentiation, and its loss or mutation contributes to oncogenesis in lymphoid and epithelial malignancies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRDM11 Knockout HEK293 Cell Line | EDJ-KQ14143 | Human | 56981 | Details Get a Quote |
| PRDM11 Knockout A-549 Cell Line | EDJ-KQ45333 | Human | 56981 | Details Get a Quote |
| PRDM11 Knockout HCT 116 Cell Line | EDJ-KQ45335 | Human | 56981 | Details Get a Quote |
| PRDM11 Knockout HeLa Cell Line | EDJ-KQ45336 | Human | 56981 | Details Get a Quote |
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