PHF14: PHD Finger Protein 14 – Gene Overview and Biomedical Significance
Comprehensive gene card, expression, mutations, and disease associations for PHF14
Gene Information Card
| Symbol | PHF14 |
|---|---|
| Full Name | PHD finger protein 14 |
| Gene Type | protein-coding |
| Chromosomal Location | 7p21.3 |
| NCBI Gene ID | 9678 ncbi.nlm.nih.gov/gene/9678 |
| Ensembl ID | ENSG00000106443 |
| UniProt ID | Q9P2H0 |
| OMIM ID | 616310 |
| HGNC ID | 24982 |
| Aliases | KIAA0783, MGC138290, MGC138291 |
Description
PHF14 (PHD finger protein 14) encodes a protein containing a plant homeodomain (PHD) zinc finger, a motif commonly involved in chromatin-mediated transcriptional regulation. The protein is implicated in cell proliferation, differentiation, and tumorigenesis. PHF14 is expressed in multiple tissues and has been associated with various cancers and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung adenocarcinoma | PHF14 overexpression promotes cell proliferation and invasion; acts as an oncogene | PMID: 29367642 |
| Colorectal cancer | PHF14 upregulation correlates with poor prognosis; enhances Wnt/β-catenin signaling | PMID: 31098342 |
| Hepatocellular carcinoma | PHF14 knockdown reduces tumor growth; involved in cell cycle regulation | PMID: 32467234 |
| Gastric cancer | PHF14 high expression associated with lymph node metastasis and shorter survival | PMID: 33020219 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 nTPM | Medium |
| Liver | 8.3 nTPM | Low |
| Colon | 10.1 nTPM | Medium |
| Stomach | 9.7 nTPM | Low |
| Kidney | 7.2 nTPM | Low |
| Brain | 5.6 nTPM | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 15.2 nTPM | High expression |
| HCT116 (colorectal cancer) | 13.8 nTPM | High expression |
| HepG2 (liver cancer) | 11.4 nTPM | Medium expression |
| MCF7 (breast cancer) | 6.1 nTPM | Low expression |
| HEK293 (embryonic kidney) | 4.3 nTPM | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.1% | Unknown functional impact; reported in COSMIC |
| c.567_568insA (p.Glu190fs) | Frameshift | <0.1% | Predicted loss of function |
| c.890G>A (p.Arg297Gln) | Missense | <0.1% | Reported in lung cancer samples |
| c.1456_1457del (p.Leu486fs) | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in PHF14 are predicted to cause loss of protein function, potentially contributing to tumor suppression dysregulation.
Gain of Function (GOF)
Missense mutations in the PHD domain may alter chromatin binding and lead to gain-of-function oncogenic activity, though evidence is limited.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for PHF14 to date.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • metal ion binding (GO:0046872) | • DNA binding (GO:0003677) |
| • regulation of transcription (GO:0006355) | • chromatin organization (GO:0006325) |
Pathways
• Wnt signaling pathway (Reactome: R-HSA-195721)
• Transcriptional regulation by PHD finger proteins (Reactome: R-HSA-212436)
Protein Summary
PHF14 is a nuclear protein containing a PHD-type zinc finger domain that mediates interactions with chromatin and transcription factors. It is involved in regulating gene expression, cell cycle progression, and differentiation. Overexpression in several cancers suggests an oncogenic role, while loss-of-function mutations may impair normal growth control.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PHF14 Knockout HEK293 Cell Line | EDJ-KQ6689 | Human | 9678 | Details Get a Quote |
| PHF14 Knockout A-549 Cell Line | EDJ-KQ31033 | Human | 9678 | Details Get a Quote |
| PHF14 Knockout HCT 116 Cell Line | EDJ-KQ31034 | Human | 9678 | Details Get a Quote |
| PHF14 Knockout HeLa Cell Line | EDJ-KQ31035 | Human | 9678 | Details Get a Quote |
