PHF11 Gene (PHD Finger Protein 11)
A regulator of chromatin remodeling and immune response, associated with asthma and cancer susceptibility.
Gene Information Card
| Symbol | PHF11 |
|---|---|
| Full Name | PHD Finger Protein 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q14.11 |
| NCBI Gene ID | 51131 ncbi.nlm.nih.gov/gene/51131 |
| Ensembl ID | ENSG00000102316 |
| UniProt ID | Q9UIL8 |
| OMIM ID | 607796 |
| HGNC ID | 8926 |
| Aliases | APRIN, C13orf2, NY-REN-34, REN-34, BAF180 |
Description
PHF11 (PHD Finger Protein 11) encodes a protein containing a PHD-type zinc finger domain, which is involved in chromatin-mediated transcriptional regulation. The gene is located on chromosome 13q14.11 and is expressed in multiple tissues, with highest levels in immune cells. PHF11 has been implicated in asthma susceptibility, immune response modulation, and certain cancers, including breast and ovarian cancer. Its protein product interacts with histone modification complexes and may regulate gene expression through chromatin remodeling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthma | PHF11 variants may alter immune cell gene expression, affecting airway inflammation and hyperresponsiveness. | GWAS and association studies (NCBI, OMIM) |
| Breast cancer | PHF11 expression changes and mutations may influence tumor progression via chromatin remodeling. | COSMIC, ClinVar |
| Ovarian cancer | Somatic mutations in PHF11 have been identified in ovarian tumor samples. | COSMIC |
| Immune system disorders | PHF11 polymorphisms are linked to altered cytokine production and immune regulation. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 15.2 | High |
| Spleen | 12.8 | High |
| Lung | 8.5 | Medium |
| Breast | 6.1 | Medium |
| Ovary | 5.3 | Medium |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | Embryonic kidney cells; high expression |
| HeLa | 11.2 | Cervical cancer cells; moderate-high |
| MCF7 | 9.8 | Breast cancer cells; moderate |
| K562 | 7.3 | Leukemia cells; moderate |
| HepG2 | 4.6 | Liver cancer cells; low-moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Unknown; reported in ClinVar as variant of uncertain significance |
| c.1573G>A (p.Gly525Arg) | Missense | <0.01% | Unknown; reported in COSMIC in breast cancer |
| c.1862_1863insA | Frameshift | <0.01% | Loss of function; reported in COSMIC in ovarian cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1862_1863insA) are predicted to cause loss of protein function, potentially disrupting chromatin binding.
Gain of Function (GOF)
No gain-of-function mutations have been characterized for PHF11.
Dominant Negative (DN)
No dominant-negative mutations have been reported for PHF11.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • chromatin organization (GO:0006325) | • histone binding (GO:0042393) |
| • regulation of transcription, DNA-templated (GO:0006355) |
Pathways
• Chromatin remodeling (Reactome: R-HSA-5250913)
• Transcriptional regulation by small RNAs (Reactome: R-HSA-5578749)
Protein Summary
The PHF11 protein contains a PHD-type zinc finger domain that mediates binding to histone H3 lysine 4 trimethylation (H3K4me3) marks, facilitating recruitment to active chromatin regions. It is involved in chromatin remodeling and transcriptional regulation, particularly in immune cells. The protein localizes to the nucleus and interacts with components of the SWI/SNF complex. Alternative splicing generates multiple isoforms, and post-translational modifications may modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PHF11 Knockout HEK293 Cell Line | EDJ-KQ10935 | Human | 51131 | Details Get a Quote |
| PHF11 Knockout A-549 Cell Line | EDJ-KQ38716 | Human | 51131 | Details Get a Quote |
| PHF11 Knockout HCT 116 Cell Line | EDJ-KQ38717 | Human | 51131 | Details Get a Quote |
| PHF11 Knockout HeLa Cell Line | EDJ-KQ38718 | Human | 51131 | Details Get a Quote |
