HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PHF20L1
PHD finger protein 20 like 1
Chromosome 8 · 8q24.22
NCBI Gene: 51105Ensembl: ENSG00000129292.21HGNC: HGNC:24280UniProt: A0A0A0MQS0
41PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmethylation-dependent protein bindingnegative regulation of proteasomal ubiquitin-dependent protein catabolic processnegative regulation of protein catabolic processmathematical abilitythyroid diseaseautoimmune diseaseattention deficit hyperactivity disorder
✦AI Summary

PHF20L1 is an epigenetic reader protein that recognizes histone post-translational modifications, particularly H3K27me2, through its Tudor and PHD finger domains 1. Its primary function is negative regulation of proteasomal degradation of methylated proteins, including the transcription factors DNMT1 and SOX2 2. PHF20L1 antagonizes SOX2 ubiquitination and proteolysis triggered by MLL1/WDR5 complexes, thereby stabilizing SOX2 and maintaining stem cell pluripotency 2. Mechanistically, PHF20L1 acts as an H3K27me2 reader that recruits polycomb repressive complex 2 (PRC2) and the Mi-2/NuRD complex to coordinate transcriptional repression 3. Clinically, PHF20L1 overexpression drives tumorigenesis across multiple cancers including breast, ovarian, and colorectal cancers 1. In colorectal cancer, PHF20L1 promotes angiogenesis and liver metastasis by negatively regulating HIC1 to enhance PAX2 expression 4. In breast cancer, elevated PHF20L1 correlates with higher histologic grades and distant metastasis-free survival outcomes; PHF20L1 deletion inhibits tumorigenesis in vivo 35. Additionally, PHF20L1 associates with herpesvirus genomes during HSV-1 infection, suggesting roles beyond cancer in viral genome silencing 6. PHF20L1 expression on chromosome 8 is also associated with earlier type 1 diabetes diagnosis age, implicating immune regulation 7. These findings position PHF20L1 as a promising therapeutic target.

Sources cited
1
PHF20L1 is an epigenetic reader recognizing histone PTMs via Tudor and PHD finger domains; upregulated in breast, ovarian, colorectal cancers and retinoblastomas driving proliferation, metastasis and immune evasion
PMID: 40723918
2
PHF20L1 antagonizes SOX2 ubiquitination and proteolysis induced by MLL1/WDR5 complexes, stabilizing SOX2 and maintaining stem cell pluripotency
PMID: 30089852
3
PHF20L1 functions as H3K27me2 reader recruiting PRC2 and NuRD complex; promotes breast cancer proliferation and metastasis by inhibiting tumor suppressors HIC1, KISS1, BRCA1
PMID: 32494608
4
PHF20L1 promotes colorectal cancer angiogenesis and liver metastasis by negatively regulating HIC1 to enhance PAX2 expression
PMID: 35357096
5
PHF20L1 overexpression in breast cancer is associated with distant metastasis-free survival; targeted by miR96-5p, miR9-5p and miR182-5p
PMID: 33847474
6
PHF20L1 associates with H3K27me2 on herpesvirus genomes during HSV-1 infection, implicating roles in viral genome silencing
PMID: 38411116
7
Higher PHF20L1 expression on chromosome 8 is associated with lower type 1 diabetes diagnosis age in lymphocytes, pancreas, and spleen
PMID: 33179336
Disease Associationsⓘ20
mathematical abilityOpen Targets
0.30Weak
thyroid diseaseOpen Targets
0.30Weak
autoimmune diseaseOpen Targets
0.14Weak
attention deficit hyperactivity disorderOpen Targets
0.13Weak
substance abuseOpen Targets
0.13Weak
hypothyroidismOpen Targets
0.13Weak
smoking initiationOpen Targets
0.10Weak
breast cancerOpen Targets
0.09Suggestive
ovarian cancerOpen Targets
0.06Suggestive
hyperthyroidismOpen Targets
0.05Suggestive
cervical carcinomaOpen Targets
0.05Suggestive
intelligenceOpen Targets
0.05Suggestive
HematemesisOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.04Suggestive
nontoxic goiterOpen Targets
0.04Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
ghosal hematodiaphyseal dysplasiaOpen Targets
0.04Suggestive
goiterOpen Targets
0.04Suggestive
cancerOpen Targets
0.03Suggestive
hemoglobin E diseaseOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GATAD2AProtein interaction100%PHF20Protein interaction100%KANSL1Protein interaction100%GATAD2BProtein interaction99%MTA3Protein interaction98%CHD4Protein interaction94%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
98%
Ovary
60%
Lung
58%
Brain
45%
Liver
44%
Gene Interaction Network
Click a node to explore
PHF20L1GATAD2APHF20KANSL1GATAD2BMTA3CHD4
PROTEIN STRUCTURE
Preparing viewer…
PDB6L1P · 1.23 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.65LoF Tolerant
pLIⓘ
0.23Tolerant
Observed/Expected LoF0.42 [0.28–0.65]
RankingsWhere PHF20L1 stands among ~20K protein-coding genes
  • #10,052of 20,598
    Most Researched41
  • #4,641of 17,882
    Most Constrained (LOEUF)0.65
Genes detectedPHF20L1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
An insight into the promoter methylation of PHF20L1 and the gene association with metastasis in breast cancer.
PMID: 33847474
Adv Clin Exp Med · 2021
1.00
2
PHF20L1: An Epigenetic Regulator in Cancer and Beyond.
PMID: 40723918
Biomolecules · 2025
0.90
3
Single-genome analysis reveals a heterogeneous association of the herpes simplex virus genome with H3K27me2 and the reader PHF20L1 following infection of human fibroblasts.
PMID: 38411116
mBio · 2024
0.80
4
Single-genome analysis reveals heterogeneous association of the Herpes Simplex Virus genome with H3K27me2 and the reader PHF20L1 following infection of human fibroblasts.
PMID: 38076966
bioRxiv · 2023
0.70
5
PHF20L1 mediates PAX2 expression to promote angiogenesis and liver metastasis in colorectal cancer through regulating HIC1.
PMID: 35357096
Biol Chem · 2022
0.60