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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DPF3
double PHD fingers 3
Chromosome 14 · 14q24.2
NCBI Gene: 8110Ensembl: ENSG00000205683.12HGNC: HGNC:17427UniProt: F8W7T1
59PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmnucleusnBAF complexregulation of mitotic metaphase/anaphase transitionatrial fibrillationgoutAbnormality of the skeletal systemkidney cancer
✦AI Summary

DPF3 (double PHD fingers 3) is a component of the BAF chr14 remodeling complex with multifaceted roles in cellular regulation. As a primary function, DPF3a cooperates with HDGFL2 to regulate myogenesis by mediating HDGFL2's interaction with the BAF complex, enabling recruitment of SMARCA4/BRG1 to myogenic gene promoters and increasing chr14 accessibility 1. Beyond myogenic differentiation, DPF3 exhibits context-dependent functions across diverse biological processes. In cancer biology, DPF3a promotes clear cell renal cell carcinoma metastasis by interacting with SNIP1 to form complexes with SMAD4 and p300 histone acetyltransferase, thereby activating TGF-β signaling and cell migration genes 2. Recent evidence reveals non-canonical functions during mitosis and ciliogenesis; DPF3 localizes to centrosomes and kinetochores during mitosis, and its loss causes kinetochore instability and chromosome 14, while it also localizes to centriolar satellites and is required for ciliogenesis and axoneme extension 3. Clinically, DPF3 polymorphisms (rs10129954) are significantly associated with male infertility, particularly azoospermia and oligozoospermia 45. Additionally, DPF3 genetic variants may contribute to melanoma susceptibility in horses 6, suggesting evolutionarily conserved roles in cancer predisposition.

Sources cited
1
DPF3 acts as regulator of myogenesis in cooperation with HDGFL2 by mediating BAF complex interaction and recruiting SMARCA4/BRG1 to myogenic gene promoters
PMID: 32459350
2
DPF3a promotes ccRCC metastasis through interaction with SNIP1, SMAD4, and p300 HAT to activate TGF-β signaling and cell migration genes
PMID: 35945219
3
DPF3 has non-canonical roles in mitosis (localizes to centrosomes and kinetochores, regulates chromosome alignment) and ciliogenesis (localizes to centriolar satellites, required for axoneme extension)
PMID: 38661008
4
DPF3 SNP rs10129954 is significantly associated with azoospermia and oligozoospermia in male infertility
PMID: 28975488
5
DPF3 SNP rs10129954 is strongly associated with idiopathic male infertility in Chinese Han population and correlated with semen quality alterations
PMID: 27232852
6
DPF3 SNP in intronic region is associated with melanoma predisposition in gray horses, with G/G genotype exhibiting melanoma suppression effects
PMID: 34801788
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.52Moderate
goutOpen Targets
0.45Moderate
Abnormality of the skeletal systemOpen Targets
0.45Moderate
kidney cancerOpen Targets
0.42Moderate
clear cell renal carcinomaOpen Targets
0.41Moderate
smoking initiationOpen Targets
0.40Moderate
neurodegenerative diseaseOpen Targets
0.40Moderate
renal cell carcinomaOpen Targets
0.38Weak
renal carcinomaOpen Targets
0.36Weak
musculoskeletal system diseaseOpen Targets
0.35Weak
obesityOpen Targets
0.33Weak
overnutritionOpen Targets
0.33Weak
wet macular degenerationOpen Targets
0.33Weak
age-related macular degenerationOpen Targets
0.33Weak
Epiretinal membraneOpen Targets
0.30Weak
retinopathyOpen Targets
0.30Weak
Malignant Urinary System NeoplasmOpen Targets
0.30Weak
breast diseaseOpen Targets
0.28Weak
diabetes mellitusOpen Targets
0.28Weak
esophageal ulcerOpen Targets
0.28Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BCL7AProtein interaction100%SMARCA2Protein interaction100%SMARCA4Protein interaction100%SMARCB1Protein interaction100%SMARCC1Protein interaction100%SMARCD1Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Ovary
58%
Bone Marrow
18%
Liver
17%
Brain
15%
Lung
2%
Gene Interaction Network
Click a node to explore
DPF3BCL7ASMARCA2SMARCA4SMARCB1SMARCC1SMARCD1
PROTEIN STRUCTURE
Preparing viewer…
PDB5SZC · 1.19 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.49Moderately Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.33 [0.23–0.49]
RankingsWhere DPF3 stands among ~20K protein-coding genes
  • #7,763of 20,598
    Most Researched59
  • #2,899of 17,882
    Most Constrained (LOEUF)0.49 · top quartile
Genes detectedDPF3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
CCR7 Chemokine Receptor-Inducible lnc-Dpf3 Restrains Dendritic Cell Migration by Inhibiting HIF-1α-Mediated Glycolysis.
PMID: 30824325
Immunity · 2019
1.00
2
The SWI/SNF chromatin remodeling factor DPF3 regulates metastasis of ccRCC by modulating TGF-β signaling.
PMID: 35945219
Nat Commun · 2022
0.90
3
Association of TUSC1 and DPF3 gene polymorphisms with male infertility.
PMID: 28975488
J Assist Reprod Genet · 2018
0.80
4
Strong association of
PMID: 27232852
Asian J Androl · 2017
0.70
5
Expression profiles of HA117 and its neighboring gene DPF3 in different colon segments of Hirschsprung's disease.
PMID: 25120773
Int J Clin Exp Pathol · 2014
0.60