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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PHF3
PHD finger protein 3
Chromosome 6 · 6q12
NCBI Gene: 23469Ensembl: ENSG00000118482.12HGNC: HGNC:8921UniProt: B3KP41
90PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleusDNA-templated transcriptionretinitis pigmentosaRetinal dystrophyretinitis pigmentosa 25neurodegenerative disease
✦AI Summary

PHF3 (PHD finger protein 3) is a nuclear transcription regulatory protein that functions as a reader of RNA polymerase II (Pol II) phosphorylation marks. PHF3 contains a SPOC domain that specifically binds phosphorylated serine-2 residues in the Pol II C-terminal domain (CTD), serving as a critical interface between transcription machinery and co-transcriptional regulators 1. Through this interaction, PHF3 drives liquid-liquid phase separation of Pol II, promoting transcription elongation while simultaneously regulating mRNA stability and neuronal gene expression 2. PHF3 knockout cells exhibit increased Pol II stalling and reduced elongation rates, with aberrant derepression of neuronal genes that impairs neural differentiation 2. Clinically, PHF3 shows significant disease relevance across multiple contexts. Expression is frequently reduced or lost in glioblastoma and other astrocytic tumors, correlating with genetic alterations in chromosome 6 3. Notably, glioblastoma patients with anti-PHF3 autoantibodies demonstrate substantially prolonged survival (14.7 months median versus 7.2 months without such antibodies), with PHF3-specific antibody responses detected in >60% of GBM patients 45. Additionally, PHF3-PTP4A1 locus variants show replicable association with alcohol dependence across multiple populations, with SNPs exhibiting cis-acting regulatory effects on PHF3 expression 6. PHF3 mutations have also been identified as immunogenic neoantigens in cancer immunotherapy contexts 7.

Sources cited
1
PHF3 SPOC domain is a CTD reader that binds phosphorylated serine-2 residues and bridges transcription machinery with co-transcriptional regulators
PMID: 36631525
2
PHF3 regulates transcription elongation and mRNA stability through Pol II CTD binding; PHF3 knockout causes increased Pol II stalling and neuronal gene derepression
PMID: 34667177
3
PHF3 expression is frequently reduced or lost in glioblastoma and astrocytic tumors; contains PHD finger and TFIIS homology domains suggesting transcription factor function
PMID: 11856869
4
Anti-PHF3 autoantibodies in glioblastoma patients correlate with significantly prolonged survival (14.7 months median versus 7.2 months)
PMID: 15906353
5
PHF3-specific antibody responses detected in >60% of glioblastoma patients; higher response rate than previously reported SEREX targets
PMID: 11464277
6
PHF3-PTP4A1 locus variants show replicable association with alcohol dependence with cis-acting regulatory effects on PHF3 expression
PMID: 22096494
7
Mutated PHF3 peptide identified as immunogenic neoepitope in cancer immunotherapy; used successfully in DC vaccines and adoptive T cell therapy
PMID: 36451303
Disease Associationsⓘ20
retinitis pigmentosaOpen Targets
0.62Moderate
Retinal dystrophyOpen Targets
0.59Moderate
retinitis pigmentosa 25Open Targets
0.57Moderate
neurodegenerative diseaseOpen Targets
0.51Moderate
autosomal recessive retinitis pigmentosaOpen Targets
0.40Moderate
Sjogren syndromeOpen Targets
0.30Weak
diabetes mellitusOpen Targets
0.30Weak
cholelithiasisOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
Posterior column ataxia - retinitis pigmentosaOpen Targets
0.17Weak
PainOpen Targets
0.16Weak
response to xenobiotic stimulusOpen Targets
0.15Weak
Neurodevelopmental delayOpen Targets
0.12Weak
Alzheimer diseaseOpen Targets
0.12Weak
Neurodevelopmental disorderOpen Targets
0.12Weak
Abnormal electroretinogramOpen Targets
0.12Weak
Abnormal retinal pigmentationOpen Targets
0.12Weak
Color vision defectOpen Targets
0.12Weak
Horizontal nystagmusOpen Targets
0.12Weak
Visual impairmentOpen Targets
0.12Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GPBP1Shared pathway100%GPBP1L1Shared pathway100%NIPBLProtein interaction98%POLR2AProtein interaction93%PTP4A1Protein interaction80%POLR2EProtein interaction80%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
66%
Heart
43%
Brain
41%
Lung
40%
Liver
36%
Gene Interaction Network
Click a node to explore
PHF3GPBP1GPBP1L1NIPBLPOLR2APTP4A1POLR2E
PROTEIN STRUCTURE
Preparing viewer…
PDB6IC9 · 1.75 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.30Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.23 [0.17–0.30]
RankingsWhere PHF3 stands among ~20K protein-coding genes
  • #5,327of 20,598
    Most Researched90
  • #1,157of 17,882
    Most Constrained (LOEUF)0.30 · top 10%
Genes detectedPHF3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Immunotherapies targeting neoantigens are effective in PD-1 blockade-resistant tumors.
PMID: 36451303
Int J Cancer · 2023
1.00
2
The SPOC domain is a phosphoserine binding module that bridges transcription machinery with co- and post-transcriptional regulators.
PMID: 36631525
Nat Commun · 2023
0.90
3
PHF3 regulates neuronal gene expression through the Pol II CTD reader domain SPOC.
PMID: 34667177
Nat Commun · 2021
0.80
4
A novel, functional and replicable risk gene region for alcohol dependence identified by genome-wide association study.
PMID: 22096494
PLoS One · 2011
0.70
5
Autoantibodies against GLEA2 and PHF3 in glioblastoma: tumor-associated autoantibodies correlated with prolonged survival.
PMID: 15906353
Int J Cancer · 2005
0.60