PHF24 (PHD Finger Protein 24)
A gene encoding a PHD finger protein involved in transcriptional regulation and chromatin remodeling.
Gene Information Card
| Symbol | PHF24 |
|---|---|
| Full Name | PHD Finger Protein 24 |
| Gene Type | Protein coding |
| Chromosomal Location | 9p13.3 |
| NCBI Gene ID | 285498 ncbi.nlm.nih.gov/gene/285498 |
| Ensembl ID | ENSG00000165029 |
| UniProt ID | Q9BUL5 |
| OMIM ID | 616447 |
| HGNC ID | 26197 |
| Aliases | FLJ11273, MGC138290 |
Description
PHF24 (PHD Finger Protein 24) is a protein-coding gene located on chromosome 9p13.3. It encodes a protein containing a PHD finger domain, which is a zinc finger motif often involved in chromatin-mediated transcriptional regulation. The exact biological function of PHF24 is not fully characterized, but it is predicted to participate in protein-protein interactions and chromatin binding, potentially influencing gene expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Brain | 3.1 | Low |
| Lung | 2.8 | Low |
| Liver | 1.5 | Not detected |
| Kidney | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 4.5 | Low expression |
| HeLa | 3.0 | Low expression |
| K562 | 2.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • metal ion binding (GO:0046872) |
| • nucleus (GO:0005634) |
Pathways
• No curated pathways available
Protein Summary
The PHF24 protein (UniProt Q9BUL5) is 548 amino acids long and contains a PHD-type zinc finger domain. It is predicted to localize to the nucleus and may function in chromatin remodeling or transcriptional regulation. Its precise molecular role remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PHF24 Knockout HEK293 Cell Line | EDJ-KQ7982 | Human | 23349 | Details Get a Quote |
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