PHF20 Gene: PHD Finger Protein 20
A chromatin-associated factor involved in transcriptional regulation and DNA damage response
Gene Information Card
| Symbol | PHF20 |
|---|---|
| Full Name | PHD Finger Protein 20 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q11.22 |
| NCBI Gene ID | 51230 ncbi.nlm.nih.gov/gene/51230 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9BVI0 |
| OMIM ID | 609275 |
| HGNC ID | 24318 |
| Aliases | C20orf104, GLEA2, HCA58, NZF, TZP |
Description
PHF20 (PHD Finger Protein 20) encodes a protein containing a PHD-type zinc finger domain, which is characteristic of chromatin-associated factors. The protein is involved in transcriptional regulation, particularly as a component of the MOF (males absent on the first) histone acetyltransferase complex. It also participates in the DNA damage response by recognizing methylated lysine residues on histones and facilitating repair. PHF20 has been implicated in cellular proliferation and is frequently overexpressed in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression and amplification of PHF20 promote cell proliferation and survival | COSMIC, NCBI Gene |
| Lung cancer | PHF20 upregulation correlates with poor prognosis and enhanced tumor growth | COSMIC, PubMed |
| Colorectal cancer | PHF20 acts as an oncogene via transcriptional activation of target genes | COSMIC, ClinVar |
| Glioblastoma | PHF20 is overexpressed and associated with aggressive tumor phenotype | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Brain | 12.3 | Medium |
| Lung | 8.7 | Medium |
| Breast | 6.2 | Low |
| Colon | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.4 | Cervical cancer cell line |
| A549 | 11.2 | Lung cancer cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| HCT116 | 7.3 | Colorectal cancer cell line |
| U87MG | 13.1 | Glioblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | 0.02% | Unknown functional impact |
| c.1456G>A (p.Gly486Ser) | Missense | 0.01% | Potential loss of function |
| c.1789_1790insA (p.Thr597Asnfs*5) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in PHF20 are predicted to cause loss of protein function, potentially impairing chromatin binding and transcriptional regulation.
Gain of Function (GOF)
Missense mutations in the PHD domain may alter substrate specificity, but no confirmed gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for PHF20.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Histone acetylation by MOF complex
• DNA damage response (ATM/ATR signaling)
• Transcriptional regulation by PHD finger proteins
Protein Summary
PHF20 is a 1018-amino acid protein containing a PHD-type zinc finger domain that mediates binding to methylated histones. It is a core component of the MOF histone acetyltransferase complex, which acetylates histone H4 at lysine 16 (H4K16ac) and regulates gene expression. PHF20 also recognizes methylated lysine residues on histones H3 and H4, facilitating recruitment of repair factors to sites of DNA damage. The protein is predominantly nuclear and is expressed in multiple tissues, with highest levels in testis and brain. Overexpression of PHF20 is observed in several cancers and is associated with poor prognosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PHF20L1 Knockout HEK293 Cell Line | EDJ-KQ10920 | Human | 51105 | Details Get a Quote |
| PHF20 Knockout HEK293 Cell Line | EDJ-KQ10985 | Human | 51230 | 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 |
| PHF20 Knockout A-549 Cell Line | EDJ-KQ38819 | Human | 51230 | Details Get a Quote |
| PHF20 Knockout HCT 116 Cell Line | EDJ-KQ38820 | Human | 51230 | Details Get a Quote |
| PHF20 Knockout HeLa Cell Line | EDJ-KQ38821 | Human | 51230 | Details Get a Quote |
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