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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DPY30
dpy-30 histone methyltransferase complex regulatory subunit
Chromosome 2 · 2p22.3
NCBI Gene: 84661Ensembl: ENSG00000162961.15HGNC: HGNC:24590UniProt: Q9C005
135PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingidentical protein bindingprotein homodimerization activityendosomal transportAutosomal dominant spastic paraplegia type 4hereditary spastic paraplegia 4neurodegenerative diseasealopecia
✦AI Summary

DPY30 is a regulatory subunit of the SET1/MLL histone methyltransferase complexes that catalyzes H3K4 trimethylation, an epigenetic mark associated with transcriptional activation 1. As part of the MLL1/MLL complex, DPY30 facilitates histone H3 lysine 4 methylation and potentially histone H3 acetylation, playing crucial roles in transcription initiation and chr2 remodeling. DPY30 also regulates non-histone substrates; it interacts with ABHD5 in the cytoplasm to control DPY30 nuclear translocation and YAP methylation 2. In cancer biology, DPY30 is consistently upregulated across multiple malignancies including colorectal cancer, melanoma, osteosarcoma, gastric cancer, and cholangiocarcinoma 34567. DPY30 knockdown suppresses cancer cell proliferation, migration, and invasion while inducing cell cycle arrest and apoptosis. Mechanistically, DPY30 promotes oncogenic transcription through H3K4me3-mediated activation of proliferation genes (PCNA, Ki67, Cyclin A2) and immune evasion genes (PD-L1) 34. DPY30 also activates PI3K/AKT signaling in osteosarcoma 5. Recent large-scale proteomics analysis identified DPY30 as a causal aging biomarker with broad health impacts 8. These findings establish DPY30 as a potential therapeutic target across multiple cancer types.

Sources cited
1
DPY30 is a regulatory factor of MLL methyltransferase complexes that catalyzes H3K4 methylation and makes extensive nucleosome contacts
PMID: 31485071
2
DPY30 interacts with ABHD5 to regulate nuclear translocation and methylation of non-histone substrates like YAP
PMID: 34795238
3
DPY30 is overexpressed in colorectal cancer and promotes proliferation through H3K4me3-mediated transcription of PCNA, Ki67, and Cyclin A2
PMID: 37324189
4
DPY30 regulates PD-L1 expression in melanoma through the DPY30-H3K4me3 axis, promoting immune evasion
PMID: 36185638
5
DPY30 promotes osteosarcoma cell growth through PI3K/AKT pathway activation
PMID: 36546421
6
DPY30 knockdown decreases proliferation, migration, and invasion of gastric cancer cells
PMID: 26147337
7
DPY30 upregulation is associated with poor prognosis in cholangiocarcinoma and promotes glycolysis
PMID: 31846841
8
DPY30 was identified as a causal aging biomarker with broad health impacts in large-scale plasma proteomics study
PMID: 40328427
Disease Associationsⓘ20
Autosomal dominant spastic paraplegia type 4Open Targets
0.48Moderate
hereditary spastic paraplegia 4Open Targets
0.48Moderate
neurodegenerative diseaseOpen Targets
0.12Weak
alopeciaOpen Targets
0.11Weak
diabetic ketoacidosisOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.10Weak
gastric cancerOpen Targets
0.08Suggestive
osteosarcomaOpen Targets
0.07Suggestive
melanomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
goutOpen Targets
0.05Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.04Suggestive
lung cancerOpen Targets
0.04Suggestive
isolated hyperchlorhidrosisOpen Targets
0.04Suggestive
acute lymphoblastic leukemiaOpen Targets
0.04Suggestive
cholangiocarcinomaOpen Targets
0.03Suggestive
Hearing loss - familial salivary gland insensitivity to aldosteroneOpen Targets
0.03Suggestive
hearing loss-familial salivary gland insensitivity to aldosterone syndromeOpen Targets
0.03Suggestive
familial isolated hyperparathyroidismOpen Targets
0.03Suggestive
hyperparathyroidismOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HCFC1Protein interaction100%KMT2BProtein interaction100%SENP3Protein interaction100%WDR5BProtein interaction100%CHD8Protein interaction100%PAGR1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Liver
54%
Heart
47%
Ovary
45%
Lung
38%
Bone Marrow
35%
Gene Interaction Network
Click a node to explore
DPY30HCFC1KMT2BSENP3WDR5BCHD8PAGR1
PROTEIN STRUCTURE
Preparing viewer…
PDB3G36 · 1.20 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.75LoF Tolerant
pLIⓘ
0.46Tolerant
Observed/Expected LoF0.38 [0.21–0.75]
RankingsWhere DPY30 stands among ~20K protein-coding genes
  • #3,425of 20,598
    Most Researched135 · top quartile
  • #5,899of 17,882
    Most Constrained (LOEUF)0.75
Genes detectedDPY30
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Plasma proteomics identify novel biomarkers and dynamic patterns of biological aging.
PMID: 40328427
J Adv Res · 2026
1.00
2
ABHD5 inhibits YAP-induced c-Met overexpression and colon cancer cell stemness via suppressing YAP methylation.
PMID: 34795238
Nat Commun · 2021
0.90
3
Structural basis of nucleosome recognition and modification by MLL methyltransferases.
PMID: 31485071
Nature · 2019
0.80
4
The DPY30-H3K4me3 Axis-Mediated PD-L1 Expression in Melanoma.
PMID: 36185638
J Inflamm Res · 2022
0.70
5
DPY30 Promotes Proliferation and Cell Cycle Progression of Colorectal Cancer Cells via Mediating H3K4 Trimethylation.
PMID: 37324189
Int J Med Sci · 2023
0.60