PHF13 Gene (PHD Finger Protein 13)
Chromatin Regulator and Transcriptional Modulator
Gene Information Card
| Symbol | PHF13 |
|---|---|
| Full Name | PHD Finger Protein 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.31 |
| NCBI Gene ID | 150383 ncbi.nlm.nih.gov/gene/150383 |
| Ensembl ID | ENSG00000116285 |
| UniProt ID | Q86YQ8 |
| OMIM ID | 616391 |
| HGNC ID | 28985 |
| Aliases | SPOC1, PHF13, C1orf107 |
Description
PHF13 (PHD Finger Protein 13) encodes a chromatin-associated protein that contains a PHD finger domain. It functions as a transcriptional regulator, binding to histone H3 trimethylated at lysine 4 (H3K4me3) and modulating chromatin structure. PHF13 is involved in cell cycle progression, DNA damage response, and stem cell differentiation. Its expression is altered in various cancers, suggesting a role in tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | PHF13 overexpression correlates with poor prognosis; may promote proliferation via chromatin remodeling | COSMIC, literature |
| Colorectal cancer | PHF13 upregulation associated with tumor progression and metastasis | COSMIC, literature |
| Prostate cancer | PHF13 expression linked to androgen receptor signaling and disease aggressiveness | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 7.1 | Low |
| Brain | 5.3 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| MCF7 | 11.2 | Breast cancer cell line |
| HEK293 | 9.8 | Embryonic kidney cell line |
| K562 | 7.5 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.1% | Unknown functional effect; reported in COSMIC |
| c.632A>G (p.Glu211Gly) | Missense | <0.1% | Unknown functional effect; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in major databases.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in major databases.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Chromatin organization
• Transcriptional regulation by histone modifications
Protein Summary
PHF13 is a 403-amino acid protein containing a PHD finger domain that specifically recognizes H3K4me3. It localizes to the nucleus and is involved in chromatin compaction and transcriptional regulation. The protein interacts with other chromatin modifiers and plays a role in cell cycle control and DNA repair. Its expression is tightly regulated during development and is dysregulated in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PHF13 Knockout HEK293 Cell Line | EDJ-KQ3210 | Human | 148479 | Details Get a Quote |
| PHF13 Knockout HeLa Cell Line | EDJ-KQ23294 | Human | 148479 | Details Get a Quote |
| PHF13 Knockout A-549 Cell Line | EDJ-KQ24679 | Human | 148479 | Details Get a Quote |
| PHF13 Knockout HCT 116 Cell Line | EDJ-KQ24680 | Human | 148479 | Details Get a Quote |
