PRDM14 Gene: PR/SET Domain 14
A key transcriptional regulator of pluripotency and germ cell development, implicated in cancer and epigenetic reprogramming.
Gene Information Card
| Symbol | PRDM14 |
|---|---|
| Full Name | PR/SET domain 14 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q13.3 |
| NCBI Gene ID | 63978 ncbi.nlm.nih.gov/gene/63978 |
| Ensembl ID | ENSG00000186265 |
| UniProt ID | Q9GZV8 |
| OMIM ID | 611151 |
| HGNC ID | 14008 |
| Aliases | PR-domain zinc finger protein 14, PFM11 |
Description
PRDM14 (PR/SET domain 14) is a transcription factor that plays a critical role in maintaining pluripotency in embryonic stem cells and in the specification of primordial germ cells. It contains an N-terminal PR domain (related to SET methyltransferases) and six C2H2 zinc finger motifs. PRDM14 regulates gene expression by recruiting epigenetic modifiers, including the Polycomb repressive complex 2 (PRC2) and the H3K4 demethylase KDM5A, to target gene promoters. It is essential for the epigenetic reprogramming of germ cells and is frequently overexpressed in various cancers, where it promotes cell proliferation and survival.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Disease | Mechanism | Evidence |
| Breast cancer | PRDM14 overexpression promotes cancer cell proliferation and survival by regulating genes involved in apoptosis and cell cycle, and by modulating epigenetic marks. | COSMIC: PRDM14 is listed as a cancer gene with mutations and expression changes in breast cancer. (COSMIC gene analysis) |
| Acute myeloid leukemia (AML) | PRDM14 is overexpressed in AML and contributes to leukemogenesis by blocking differentiation and enhancing self-renewal of leukemic stem cells. | COSMIC: PRDM14 mutations and expression alterations are found in AML. (COSMIC gene analysis) |
| Lung cancer | PRDM14 expression is upregulated in lung cancer and is associated with poor prognosis; it promotes tumor growth and metastasis. | COSMIC: PRDM14 is listed with mutations in lung cancer. (COSMIC gene analysis) |
| Colorectal cancer | PRDM14 overexpression in colorectal cancer correlates with aggressive tumor features and may drive cancer stem cell properties. | COSMIC: PRDM14 mutations are reported in colorectal cancer. (COSMIC gene analysis) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tissue | nTPM | Level |
| Testis | 12.3 | Low |
| Bone marrow | 5.1 | Not detected |
| Lymph node | 3.2 | Not detected |
| Spleen | 2.8 | Not detected |
| Brain | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cell Line | nTPM | Notes |
| H1 (embryonic stem cell) | 25.4 | High expression; PRDM14 is a key pluripotency factor. |
| K562 (leukemia) | 8.7 | Moderate expression; may contribute to leukemic phenotype. |
| MCF7 (breast cancer) | 15.2 | Elevated expression; associated with cancer progression. |
| A549 (lung cancer) | 10.5 | Expression present; linked to tumor growth. |
| HepG2 (liver cancer) | 2.3 | Low expression; not a major tissue for PRDM14. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Variant | Type | Frequency | Effect |
| c.1A>G (p.Met1?) | Missense | Rare (<0.01%) | Potential loss of start codon; likely loss of function. |
| c.100C>T (p.Arg34Trp) | Missense | Rare (<0.01%) | May affect zinc finger domain; functional impact unknown. |
| c.250G>A (p.Gly84Arg) | Missense | Rare (<0.01%) | Located in PR domain; may alter methyltransferase activity. |
| c.400_401insA (frameshift) | Frameshift | Rare (<0.01%) | Predicted to cause premature truncation; loss of function. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in PRDM14 are rare and may impair its role in pluripotency and germ cell development. Such mutations could lead to developmental defects or reduced cancer cell proliferation, but clinical data are limited.
Gain of Function (GOF)
Gain-of-function mutations or overexpression of PRDM14 are common in cancers, leading to enhanced cell proliferation, survival, and epigenetic reprogramming. These are often due to gene amplification or transcriptional upregulation.
Dominant Negative (DN)
No dominant-negative mutations have been reported for PRDM14. However, some missense mutations in the zinc finger domain could potentially interfere with DNA binding and act in a dominant-negative manner, but evidence is lacking.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • Chromatin binding | • Histone methyltransferase activity (H3K4 demethylase activity) |
| • Regulation of transcription by RNA polymerase II | • Positive regulation of transcription |
| • Negative regulation of transcription | • Cell differentiation |
| • Germ cell development | • Epigenetic reprogramming |
Pathways
• Pluripotency pathway (core transcriptional network)
• Primordial germ cell specification
• Epigenetic regulation of gene expression
• Cancer pathways (e.g.
• PI3K/AKT
• Wnt signaling)
Protein Summary
PRDM14 is a 675-amino acid protein with a PR domain and six zinc finger motifs. It functions as a transcriptional regulator that binds to specific DNA sequences and recruits chromatin-modifying complexes. PRDM14 is essential for the maintenance of pluripotency in embryonic stem cells and for the specification of primordial germ cells. In cancer, PRDM14 is often overexpressed, promoting tumor progression by regulating genes involved in cell cycle, apoptosis, and differentiation. Its expression is largely restricted to stem cells and germ cells, with low levels in normal adult tissues, making it a potential therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRDM14 Knockout HEK293 Cell Line | EDJ-KQ3683 | Human | 63978 | Details Get a Quote |
| PRDM14 Knockout HeLa Cell Line | EDJ-KQ57010 | Human | 63978 | Details Get a Quote |
| PRDM14 Knockout A-549 Cell Line | EDJ-KQ65515 | Human | 63978 | Details Get a Quote |
| PRDM14 Knockout HCT 116 Cell Line | EDJ-KQ73951 | Human | 63978 | Details Get a Quote |
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