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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PHF13
PHD finger protein 13
Chromosome 1 · 1p36.31
NCBI Gene: 148479Ensembl: ENSG00000116273.7HGNC: HGNC:22983UniProt: A0A158RFV6
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
chromatin bindingprotein bindinghistone H3K9me2/3 reader activitychromatin-protein adaptor activityneurodegenerative diseasetype 2 diabetes mellitushypertensionIncreased blood pressure
✦AI Summary

PHF13 is a chr1-binding epigenetic reader that functions as a multivalent H3K4me2/3 molecular reader and transcriptional co-regulator 1. PHF13 modulates chr1 structure through oligomerization-dependent mechanisms: ordered oligomerization increases chr1 valence and promotes polymer-polymer phase separation leading to global chr1 compaction, while intrinsically disordered regions form liquid-liquid phase-separated condensates with differential gene expression impacts 2. Mechanistically, PHF13 recruits chr1-modifying complexes including PRC2 and RNA Polymerase II, stabilizing their associations at active and bivalent promoters 1, and interacts with ~50 spliceosomal proteins suggesting roles in co-transcriptional splicing 3. Disease relevance includes cancer pathology: PHF13 is required for pancreatic cancer growth and metastasis by epigenetically activating TGFβ-driven epithelial-to-mesenchymal transition genes, with enrichment at super-enhancers controlling migration genes like SNAI1 and SOX9 4. PHF13 is aberrantly regulated across multiple cancers 2, and genome-wide association studies identified PHF13 as a high-confidence causal gene in age-related disease multimorbidity, supporting geroscience hypothesis relevance 5. Clinically, PHF13 represents a potential therapeutic target for cancer metastasis and age-related disease prevention.

Sources cited
1
PHF13 is an H3K4me2/3 molecular reader and transcriptional co-regulator that binds chromatin multivalently and interacts with PRC2 and RNA PolII
PMID: 27223324
2
PHF13 oligomerization regulates chromatin affinity through ordered and disordered regions, promoting different phase separation states and chromatin compaction
PMID: 40598901
3
PHF13 interacts with ~50 spliceosomal proteins and is involved in RNA polymerase II transcriptional regulation and co-transcriptional splicing
PMID: 28102760
4
PHF13 is required for pancreatic cancer growth and metastasis by epigenetically activating TGFβ-driven EMT genes at super-enhancers
PMID: 35597793
5
PHF13 is identified as a high-confidence causal gene for age-related disease multimorbidity with putative roles in human aging
PMID: 41405793
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.52Moderate
type 2 diabetes mellitusOpen Targets
0.40Weak
hypertensionOpen Targets
0.27Weak
Increased blood pressureOpen Targets
0.27Weak
obstructive sleep apneaOpen Targets
0.26Weak
diabetes mellitusOpen Targets
0.24Weak
cardiovascular diseaseOpen Targets
0.17Weak
essential hypertensionOpen Targets
0.09Suggestive
azoospermiaOpen Targets
0.08Suggestive
spermatogenic failure 59Open Targets
0.07Suggestive
spermatogenic failure 60Open Targets
0.07Suggestive
spermatogenic failure 73Open Targets
0.07Suggestive
spermatogenic failure 74Open Targets
0.07Suggestive
spermatogenic failure 61Open Targets
0.07Suggestive
spermatogenic failure 62Open Targets
0.07Suggestive
spermatogenic failure 88Open Targets
0.07Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure 48Open Targets
0.07Suggestive
sleep apneaOpen Targets
0.07Suggestive
spermatogenic failure 57Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DNASE1L2Protein interaction82%TBX20Protein interaction81%H2BW1Shared pathway40%NCAPD2Shared pathway29%CENPTShared pathway29%RNF169Shared pathway29%
Tissue Expression6 tissues
Brain
100%
Ovary
87%
Bone Marrow
69%
Lung
56%
Liver
50%
Heart
44%
Gene Interaction Network
Click a node to explore
PHF13DNASE1L2TBX20H2BW1NCAPD2CENPTRNF169
PROTEIN STRUCTURE
Preparing viewer…
PDB3O7A · 1.67 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.18Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.04 [0.01–0.18]
RankingsWhere PHF13 stands among ~20K protein-coding genes
  • #14,489of 20,598
    Most Researched19
  • #354of 17,882
    Most Constrained (LOEUF)0.18 · top 5%
Genes detectedPHF13
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Differential oligomerization regulates PHF13 chromatin affinity and function.
PMID: 40598901
Nucleic Acids Res · 2025
1.00
2
PHF13 epigenetically activates TGFβ driven epithelial to mesenchymal transition.
PMID: 35597793
Cell Death Dis · 2022
0.90
3
PHF13 is a molecular reader and transcriptional co-regulator of H3K4me2/3.
PMID: 27223324
Elife · 2016
0.80
4
Genetic links between multimorbidity and human aging.
PMID: 41405793
Geroscience · 2025
0.70
5
Dual role of the chromatin-binding factor PHF13 in the pre- and post-integration phases of HIV-1 replication.
PMID: 29021215
Open Biol · 2017
0.60