PHF23 (PHD Finger Protein 23)
A chromatin-associated protein implicated in leukemia and transcriptional regulation
Gene Information Card
| Symbol | PHF23 |
|---|---|
| Full Name | PHD Finger Protein 23 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 79142 ncbi.nlm.nih.gov/gene/79142 |
| Ensembl ID | ENSG00000187630 |
| UniProt ID | Q9BUL5 |
| OMIM ID | 610123 |
| HGNC ID | 28436 |
| Aliases | FLJ12874, MGC13170, dJ223E5.2 |
Description
PHF23 (PHD Finger Protein 23) encodes a protein containing a plant homeodomain (PHD) zinc finger, a motif often involved in chromatin binding and transcriptional regulation. The protein is localized to the nucleus and is thought to participate in transcriptional repression through interaction with histone modification complexes. PHF23 is of particular interest due to its involvement in a recurrent NUP98-PHF23 fusion gene in acute myeloid leukemia (AML), where the PHD finger of PHF23 is fused to the N-terminal portion of NUP98, leading to aberrant transcriptional activation and leukemogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Myeloid Leukemia (AML) | NUP98-PHF23 fusion protein drives leukemogenesis by aberrantly recruiting histone acetyltransferases and altering gene expression | Recurrent fusion identified in AML patient samples; functional studies in murine models show induction of AML (PMID: 17962512, COSMIC) |
| Myelodysplastic Syndrome (MDS) | NUP98-PHF23 fusion may also contribute to MDS through similar mechanisms | Rare cases reported; fusion detected in MDS patients (COSMIC) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 8.2 | Medium |
| Lymph Node | 6.5 | Medium |
| Spleen | 5.1 | Low |
| Testis | 4.8 | Low |
| Brain | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 12.4 | High expression |
| HEK 293 (embryonic kidney) | 7.8 | Medium expression |
| HeLa (cervical carcinoma) | 6.1 | Medium expression |
| HepG2 (liver carcinoma) | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| NUP98-PHF23 fusion | Gene fusion | Rare in AML (<1%) | Oncogenic; constitutive activation of HOX genes |
| Missense variants (e.g., p.Cys241Tyr) | Missense | Unknown | Potential disruption of PHD finger structure; functional impact unclear |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in PHF23; the PHD finger is essential for chromatin binding, and missense mutations may impair this function.
Gain of Function (GOF)
The NUP98-PHF23 fusion acts as a gain-of-function oncoprotein by aberrantly recruiting coactivators and activating leukemogenic gene expression programs.
Dominant Negative (DN)
Not described for PHF23; the fusion protein may act in a dominant manner over wild-type PHF23 but is not classified as dominant-negative.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • metal ion binding (GO:0046872) | • chromatin binding (GO:0003682) |
| • regulation of transcription, DNA-templated (GO:0006355) |
Pathways
• Not assigned to any curated pathway in Reactome or KEGG; implicated in HOX gene activation via NUP98-PHF23 fusion
Protein Summary
PHF23 is a 403-amino acid nuclear protein containing a single PHD zinc finger domain. The PHD finger mediates binding to histone H3 tails, particularly when unmethylated at lysine 4 (H3K4me0), and is involved in transcriptional repression. In the context of the NUP98-PHF23 fusion, the PHD finger retains its histone-binding ability but is redirected to activate transcription of HOX genes, contributing to leukemic transformation. The wild-type protein is broadly expressed at low to moderate levels in hematopoietic tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PHF23 Knockout HEK293 Cell Line | EDJ-KQ14744 | Human | 79142 | Details Get a Quote |
| PHF23 Knockout HeLa Cell Line | EDJ-KQ43887 | Human | 79142 | Details Get a Quote |
| PHF23 Knockout A-549 Cell Line | EDJ-KQ45107 | Human | 79142 | Details Get a Quote |
| PHF23 Knockout HCT 116 Cell Line | EDJ-KQ45108 | Human | 79142 | Details Get a Quote |
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