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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PHF20
PHD finger protein 20
Chromosome 20 Β· 20q11.22-q11.23
NCBI Gene: 51230Ensembl: ENSG00000025293.18HGNC: HGNC:16098UniProt: Q9BVI0
51PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneTranscription Factor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingnucleoplasmnuclear membranehistone acetyltransferase complexneurodegenerative diseaseShort statureovarian dysfunctionAbnormality of the skeletal system
✦AI Summary

PHF20 is a multidomain epigenetic reader and component of the MOF-NSL histone acetyltransferase complex that regulates transcription through recognition of methylated histones and p53. As a methyllysine-binding protein, PHF20 contains a plant homeodomain (PHD) finger that recognizes dimethylated histone H3 lysine 4 (H3K4me2) 1, and a Tudor domain that binds dimethylated p53 at lysines 370 and 382 2. These reader functions couple histone acetylation with p53 stabilization; PHF20 binding to methylated p53 reduces Mdm2-mediated degradation and promotes p53 activation 2. PHF20 also regulates autophagy genes through H3K36me2-dependent enhancer activation 3. Functionally, PHF20 controls stemness in neuroblastoma by collaborating with PARP1 to activate SOX2 and OCT4 expression 4, and regulates glioblastoma progression through MAPK and p53 signaling pathways 5. PHF20 phosphorylation by PKB modulates its p53-regulatory function during DNA damage responses 6. Clinically, PHF20 expression correlates inversely with cancer aggressiveness; high PHF20 associates with better prognosis in non-small cell lung cancer and reduced tumor grade in glioblastoma 75, positioning PHF20 as both a prognostic biomarker and potential therapeutic target.

Sources cited
1
PHF20 PHD finger recognizes dimethylated histone H3K4 and Tudor2 domain recognizes dimethylated p53
PMID: 27760318
2
PHF20 stabilizes and activates p53 by reducing Mdm2-mediated ubiquitylation and degradation
PMID: 22864287
3
PHF20 regulates autophagy genes through H3K36me2-dependent enhancer activation
PMID: 35821310
4
PHF20 collaborates with PARP1 to maintain neuroblastoma stemness by activating SOX2 and OCT4
PMID: 29452418
5
PHF20 regulates glioblastoma through MAPK, apoptosis, and p53 signaling pathways
PMID: 29033691
6
PKB phosphorylation of PHF20 on Ser291 regulates p53 function in DNA damage response
PMID: 22975685
7
PHF20 expression is higher in normal lung tissue than NSCLC and correlates with better prognosis
PMID: 26722404
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.46Moderate
Short statureOpen Targets
0.32Weak
ovarian dysfunctionOpen Targets
0.30Weak
Abnormality of the skeletal systemOpen Targets
0.26Weak
cancerOpen Targets
0.11Weak
actinic keratosisOpen Targets
0.11Weak
skin cancerOpen Targets
0.11Weak
skin neoplasmOpen Targets
0.11Weak
amyotrophic lateral sclerosisOpen Targets
0.11Weak
basal cell carcinomaOpen Targets
0.10Suggestive
Abnormality of skin pigmentationOpen Targets
0.09Suggestive
skin sensitivity to sunOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
cardioembolic strokeOpen Targets
0.06Suggestive
gliomaOpen Targets
0.04Suggestive
intelligenceOpen Targets
0.04Suggestive
severe combined immunodeficiency due to LAT deficiencyOpen Targets
0.03Suggestive
short-limb skeletal dysplasia with severe combined immunodeficiencyOpen Targets
0.03Suggestive
Intermediate osteopetrosisOpen Targets
0.03Suggestive
immunodeficiency 76Open Targets
0.03Suggestive
Pathogenic Variants2
NM_016436.5(PHF20):c.890C>T (p.Pro297Leu)Likely pathogenic
Short stature
β˜†β˜†β˜†β˜†2001β†’ Residue 297
NM_016436.5(PHF20):c.2593G>A (p.Asp865Asn)Likely pathogenic
Short stature
β˜†β˜†β˜†β˜†2001β†’ Residue 865
View on ClinVar β†—
Related Genes
TAB3Protein interaction100%PHF20L1Protein interaction100%MRGBPProtein interaction100%KAT5Protein interaction99%ACTBProtein interaction97%OGTProtein interaction97%
Tissue Expression6 tissues
Brain
100%
Heart
57%
Lung
54%
Ovary
45%
Bone Marrow
39%
Liver
22%
Gene Interaction Network
Click a node to explore
PHF20TAB3PHF20L1MRGBPKAT5ACTBOGT
PROTEIN STRUCTURE
Preparing viewer…
PDB5TAB Β· 1.25 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.25Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.16 [0.11–0.25]
RankingsWhere PHF20 stands among ~20K protein-coding genes
  • #8,711of 20,598
    Most Researched51
  • #4,433of 5,498
    Most Pathogenic Variants2
  • #767of 17,882
    Most Constrained (LOEUF)0.25 Β· top 5%
Genes detectedPHF20
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Identification of genes and pathways potentially related to PHF20 by gene expression profile analysis of glioblastoma U87 cell line.
PMID: 29033691
Cancer Cell Int Β· 2017
1.00
2
PHF20 collaborates with PARP1 to promote stemness and aggressiveness of neuroblastoma cells through activation of SOX2 and OCT4.
PMID: 29452418
J Mol Cell Biol Β· 2018
0.90
3
PHF20 is an effector protein of p53 double lysine methylation that stabilizes and activates p53.
PMID: 22864287
Nat Struct Mol Biol Β· 2012
0.80
4
PKB-mediated PHF20 phosphorylation on Ser291 is required for p53 function in DNA damage.
PMID: 22975685
Cell Signal Β· 2013
0.70
5
PHF20 Readers Link Methylation of Histone H3K4 and p53 with H4K16 Acetylation.
PMID: 27760318
Cell Rep Β· 2016
0.60