PHF10: PHD Finger Protein 10
A chromatin-associated transcription regulator with roles in development and cancer
Gene Information Card
| Symbol | PHF10 |
|---|---|
| Full Name | PHD Finger Protein 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q27 |
| NCBI Gene ID | 55274 ncbi.nlm.nih.gov/gene/55274 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q8WUB8 |
| OMIM ID | 613069 |
| HGNC ID | 24950 |
| Aliases | BAF45a, BAF45A, SMARCB1-interacting protein, MGC10744 |
Description
PHF10 encodes a PHD finger-containing protein that functions as a subunit of the SWI/SNF (BAF) chromatin remodeling complex. It is involved in transcriptional regulation, cell cycle control, and neurodevelopment. The protein contains a PHD-type zinc finger domain that mediates chromatin binding and a conserved domain of unknown function (DUF). Alternative splicing generates multiple isoforms with distinct tissue expression patterns.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | PHF10 mutations disrupt BAF complex function, impairing neuronal gene expression | ClinVar; PMID: 31036916 |
| Schizophrenia | Rare variants in PHF10 associated with increased risk; altered chromatin regulation in neurons | ClinVar; PMID: 29483662 |
| Breast cancer | PHF10 overexpression correlates with poor prognosis; promotes proliferation via MYC activation | COSMIC; PMID: 25691885 |
| Colorectal cancer | PHF10 amplification and overexpression; enhances Wnt/β-catenin signaling | COSMIC; PMID: 27864381 |
| Glioma | PHF10 expression linked to tumor grade; modulates cell migration and invasion | COSMIC; PMID: 29348615 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Testis | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.8 | Low |
| Heart | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney; high expression |
| SH-SY5Y | 14.7 | Neuroblastoma; high expression |
| MCF7 | 8.5 | Breast cancer; moderate expression |
| HCT116 | 7.3 | Colorectal cancer; moderate expression |
| A549 | 6.1 | Lung cancer; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; likely loss of function |
| c.287C>T (p.Pro96Leu) | Missense | <0.01% | Alters PHD domain; reduced chromatin binding |
| c.512_513insA (p.Gln171fs) | Frameshift | <0.01% | Premature truncation; loss of function |
| c.724G>A (p.Gly242Arg) | Missense | <0.01% | Located in DUF; functional impact unknown |
| c.1003C>T (p.Arg335*) | Nonsense | <0.01% | Premature stop; loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Gln171fs, p.Arg335*) lead to truncated protein lacking functional domains, resulting in loss of BAF complex interaction and chromatin regulation.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in PHF10.
Dominant Negative (DN)
Missense mutations in the PHD domain (e.g., p.Pro96Leu) may produce a protein that competes with wild-type PHF10 for BAF complex binding but fails to mediate proper chromatin interactions, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • chromatin binding | • zinc ion binding |
| • transcription coregulator activity | • nucleus |
| • SWI/SNF complex | • regulation of transcription by RNA polymerase II |
| • cell cycle | • nervous system development |
Pathways
• Chromatin remodeling by SWI/SNF (BAF) complex
• Transcriptional regulation by BAF complex
• Neuronal differentiation
Protein Summary
PHF10 (BAF45a) is a 396-amino-acid protein containing an N-terminal PHD zinc finger domain that binds to histone H3 tails, and a C-terminal domain that mediates interaction with the SWI/SNF (BAF) chromatin remodeling complex. It is ubiquitously expressed with highest levels in brain and testis. PHF10 regulates transcription of genes involved in cell proliferation, differentiation, and neurodevelopment. Mutations and altered expression are associated with neurodevelopmental disorders and multiple cancer types.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PHF10 Knockout HEK293 Cell Line | EDJ-KQ13956 | Human | 55274 | Details Get a Quote |
| PHF10 Knockout A-549 Cell Line | EDJ-KQ45100 | Human | 55274 | Details Get a Quote |
| PHF10 Knockout HCT 116 Cell Line | EDJ-KQ45102 | Human | 55274 | Details Get a Quote |
| PHF10 Knockout HeLa Cell Line | EDJ-KQ45103 | Human | 55274 | Details Get a Quote |
