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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NSD3
nuclear receptor binding SET domain protein 3
Chromosome 8 · 8p11.23
NCBI Gene: 54904Ensembl: ENSG00000147548.18HGNC: HGNC:12767UniProt: Q9BZ95
90PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneOncogeneTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindinghistone H3K36 methyltransferase activitytranscription regulator activator activityhistone H3K4 dimethyltransferase activitykidney neoplasmbile duct carcinomaesophageal adenocarcinomaskin basal cell carcinoma
✦AI Summary

NSD3 (nuclear receptor binding SET domain protein 3) is a histone H3 lysine methyltransferase that catalyzes dimethylation of H3K36 (H3K36me2), a chr8 modification associated with transcriptional regulation 1. The enzyme exhibits an autoinhibitory state that is relieved upon nucleosome binding, where it causes DNA unwrapping near linker regions to facilitate insertion of its catalytic core between the histone octamer and DNA 1. NSD3 is frequently amplified in the 8p11-12 chr8 region across multiple cancer types including lung squamous cell carcinoma, where it functions as a key oncogenic driver rather than the previously suspected FGFR1 2. Cancer-associated mutations, particularly T1232A, increase NSD3's catalytic activity and promote tumorigenesis through pathological H3K36me2 generation that reprograms chr8 landscapes 2. Beyond its methyltransferase activity, NSD3 exhibits non-epigenetic functions, including regulation of glycolysis in lung adenocarcinoma through interaction with PPP1CB to modulate STAT3 signaling 3. The gene encodes multiple isoforms including NSD3L (full-length) and NSD3S (lacking methyltransferase domain), both contributing to cancer progression through distinct mechanisms 4. NSD3's dual oncogenic roles and frequent amplification in cancers make it an attractive therapeutic target for bromodomain inhibition and specific methyltransferase inhibitors 25.

Sources cited
1
NSD3 catalyzes H3K36me2 through nucleosome-dependent mechanism involving DNA unwrapping
PMID: 33361816
2
NSD3 is the key oncogenic driver in 8p11-12 amplified lung squamous cell carcinoma, with T1232A mutation increasing catalytic activity
PMID: 33536620
3
NSD3 regulates glycolysis through non-epigenetic interaction with PPP1CB and STAT3 signaling
PMID: 39119928
4
NSD3 encodes multiple isoforms (NSD3L and NSD3S) with distinct cancer-relevant functions
PMID: 38256018
5
NSD3 is a therapeutic target with limited available inhibitors despite frequent cancer involvement
PMID: 37182335
Disease Associationsⓘ20
kidney neoplasmOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
colorectal adenocarcinomaOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
esophageal adenocarcinomaOpen Targets
0.37Weak
gastric carcinomaOpen Targets
0.37Weak
Hepatobiliary NeoplasmOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
skin basal cell carcinomaOpen Targets
0.37Weak
squamous cell lung carcinomaOpen Targets
0.31Weak
head and neck squamous cell carcinomaOpen Targets
0.30Weak
lung adenocarcinomaOpen Targets
0.30Weak
osteosarcomaOpen Targets
0.29Weak
hepatocellular carcinomaOpen Targets
0.28Weak
acute myeloid leukemiaOpen Targets
0.28Weak
thyroid carcinomaOpen Targets
0.28Weak
diffuse large B-cell lymphomaOpen Targets
0.28Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MSL1Shared pathway100%HDGFL1Shared pathway100%HIPK4Shared pathway100%HMGB4Shared pathway100%NAA40Shared pathway100%NSD1Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
86%
Ovary
79%
Lung
51%
Heart
40%
Liver
29%
Gene Interaction Network
Click a node to explore
NSD3MSL1HDGFL1HIPK4HMGB4NAA40NSD1
PROTEIN STRUCTURE
Preparing viewer…
PDB6G25 · 1.43 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.18Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.12 [0.08–0.18]
RankingsWhere NSD3 stands among ~20K protein-coding genes
  • #5,322of 20,598
    Most Researched90
  • #324of 17,882
    Most Constrained (LOEUF)0.18 · top 5%
Genes detectedNSD3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A proteogenomic portrait of lung squamous cell carcinoma.
PMID: 34358469
Cell · 2021
1.00
2
Elevated NSD3 histone methylation activity drives squamous cell lung cancer.
PMID: 33536620
Nature · 2021
0.90
3
Histones Methyltransferase NSD3 Inhibits Lung Adenocarcinoma Glycolysis Through Interacting with PPP1CB to Decrease STAT3 Signaling Pathway.
PMID: 39119928
Adv Sci (Weinh) · 2024
0.80
4
NSD3: Advances in cancer therapeutic potential and inhibitors research.
PMID: 37182335
Eur J Med Chem · 2023
0.70
5
Molecular basis of nucleosomal H3K36 methylation by NSD methyltransferases.
PMID: 33361816
Nature · 2021
0.60