PHF20L1 Gene
PHD Finger Protein 20 Like 1
Gene Information Card
| Symbol | PHF20L1 |
|---|---|
| Full Name | PHD Finger Protein 20 Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q24.22 |
| NCBI Gene ID | 51109 ncbi.nlm.nih.gov/gene/51109 |
| Ensembl ID | ENSG00000164733 |
| UniProt ID | Q8IYJ0 |
| OMIM ID | 616977 |
| HGNC ID | 25429 |
| Aliases | PHF20L, PHF20-like, dJ473B1.1 |
Description
PHF20L1 (PHD Finger Protein 20 Like 1) is a protein-coding gene located on chromosome 8q24.22. It encodes a protein containing a PHD-type zinc finger domain, which is involved in chromatin-mediated transcriptional regulation. PHF20L1 is thought to function as a reader of histone methylation marks and may play a role in gene expression control, cell proliferation, and tumorigenesis. The gene is expressed in multiple tissues and has been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression and amplification; potential oncogenic role | COSMIC; literature |
| Colorectal cancer | Altered expression; possible involvement in tumor progression | COSMIC; literature |
| Lung cancer | Copy number alterations and expression changes | COSMIC; literature |
| Prostate cancer | Expression dysregulation reported | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Breast | 5.4 | Low |
| Colon | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | Embryonic kidney; moderate expression |
| HeLa | 7.1 | Cervical carcinoma; low expression |
| MCF7 | 6.5 | Breast cancer; low expression |
| A549 | 5.9 | Lung carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Premature truncation; likely loss of function |
| c.567G>A (p.Glu189Glu) | Synonymous | <0.1% | No amino acid change; uncertain significance |
| c.890A>G (p.Asn297Ser) | Missense | <0.1% | Substitution; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*) are predicted to cause loss of function through premature truncation.
Gain of Function (GOF)
No gain-of-function mutations currently documented in major databases.
Dominant Negative (DN)
No dominant-negative mutations currently documented.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • metal ion binding (GO:0046872) |
| • nucleus (GO:0005634) | • DNA binding (GO:0003677) |
| • regulation of transcription (GO:0006355) |
Pathways
• Chromatin organization
• Transcriptional regulation by histone modifications
Protein Summary
The PHF20L1 protein (UniProt Q8IYJ0) contains a PHD-type zinc finger domain that mediates binding to methylated histone tails, particularly H3K4me3. It is localized to the nucleus and is involved in chromatin remodeling and transcriptional regulation. The protein is 1012 amino acids long and has a molecular weight of approximately 112 kDa. Its precise biological functions are still under investigation, but it is implicated in cell cycle control and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PHF20L1 Knockout HEK293 Cell Line | EDJ-KQ10920 | Human | 51105 | Details Get a Quote |
| PHF20L1 Knockout A-549 Cell Line | EDJ-KQ38674 | Human | 51105 | Details Get a Quote |
| PHF20L1 Knockout HCT 116 Cell Line | EDJ-KQ38675 | Human | 51105 | Details Get a Quote |
| PHF20L1 Knockout HeLa Cell Line | EDJ-KQ38676 | Human | 51105 | Details Get a Quote |
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