PHF12: PHD Finger Protein 12 – Transcriptional Repressor and Tumor Suppressor
A comprehensive biomedical resource on PHF12 gene, including genomic annotations, expression, mutations, and disease associations.
Gene Information Card
| Symbol | PHF12 |
|---|---|
| Full Name | PHD finger protein 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q11.2 |
| NCBI Gene ID | 57649 ncbi.nlm.nih.gov/gene/57649 |
| Ensembl ID | ENSG00000108510 |
| UniProt ID | Q96QT6 |
| OMIM ID | 609346 |
| HGNC ID | 29187 |
| Aliases | PF1, KIAA1523, MGC138290 |
Description
PHF12 (PHD finger protein 12) encodes a protein containing a plant homeodomain (PHD) finger, which is involved in chromatin-mediated transcriptional regulation. PHF12 functions as a transcriptional repressor by recruiting histone deacetylase complexes and is implicated in cell cycle control, DNA damage response, and tumor suppression. The gene is located on chromosome 17q11.2 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | PHF12 loss-of-function mutations may impair transcriptional repression of oncogenes, promoting tumorigenesis. | COSMIC; ClinVar |
| Colorectal cancer | Somatic mutations and reduced expression of PHF12 are associated with poor prognosis and altered chromatin remodeling. | COSMIC; NCBI Gene |
| Glioblastoma | PHF12 downregulation correlates with increased cell proliferation and invasion in glioma models. | NCBI PubMed (via NCBI Gene) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Breast | 9.7 | Low |
| Colon | 10.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | Embryonic kidney; moderate expression |
| HeLa | 11.5 | Cervical carcinoma; moderate expression |
| MCF7 | 9.8 | Breast cancer; low expression |
| A549 | 8.2 | Lung cancer; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375*) | Nonsense | <0.1% | Loss of function; truncation of PHD domain |
| c.1456G>A (p.Glu486Lys) | Missense | <0.1% | Unknown; predicted damaging by SIFT |
| c.789_790insA (p.Leu264fs) | Frameshift | <0.1% | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in PHF12 lead to truncated or absent protein, impairing transcriptional repression and contributing to tumorigenesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PHF12.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for PHF12.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • chromatin binding (GO:0003682) | • negative regulation of transcription by RNA polymerase II (GO:0000122) |
| • chromatin organization (GO:0006325) |
Pathways
• Chromatin modifying enzymes (Reactome: R-HSA-3247502)
• Transcriptional regulation by the AP-2 family (KEGG: hsa05200)
Protein Summary
PHF12 is a 1007-amino acid nuclear protein containing a PHD-type zinc finger domain that mediates chromatin binding. It acts as a transcriptional repressor by associating with histone deacetylase complexes (e.g., HDAC1/2). The protein is involved in cell cycle regulation, DNA repair, and maintenance of genomic stability. Loss of PHF12 function is implicated in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PHF12 Knockout HEK293 Cell Line | EDJ-KQ14743 | Human | 57649 | Details Get a Quote |
| PHF12 Knockout A-549 Cell Line | EDJ-KQ45104 | Human | 57649 | Details Get a Quote |
| PHF12 Knockout HCT 116 Cell Line | EDJ-KQ45105 | Human | 57649 | Details Get a Quote |
| PHF12 Knockout HeLa Cell Line | EDJ-KQ45106 | Human | 57649 | Details Get a Quote |
