HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SETDB2
SET domain bifurcated histone lysine methyltransferase 2
Chromosome 13 · 13q14.2
NCBI Gene: 83852Ensembl: ENSG00000136169.18HGNC: HGNC:20263UniProt: Q96T68
34PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmitotic cell cyclenucleushistone H3K9 methyltransferase activityneurodegenerative diseasebreast cancerlung adenocarcinomaImmunodeficiency due to a late component of complements deficiency
✦AI Summary

SETDB2 is a histone methyltransferase that catalyzes trimethylation of histone H3 lysine 9 (H3K9me3), a repressive chr13 mark essential for transcriptional silencing 12. The enzyme plays critical roles in early embryonic development, particularly in left-right axis specification, with genetic variants in SETDB2 associated with handedness in humans 3. SETDB2 functions as an epigenetic regulator across multiple pathological contexts. In cancer, it contributes to therapy-induced cellular reprogramming and drug resistance through increased H3K9me3 deposition 2, while showing differential expression patterns in renal cell carcinoma subtypes that correlate with prognosis and metastasis risk 4. In inflammatory diseases, SETDB2 suppresses NF-κB-mediated inflammation in macrophages during wound repair, with STAT3 regulating both its expression and activity 1. The enzyme also controls matrix metalloproteinase activity in abdominal aortic aneurysms by epigenetically silencing tissue inhibitors of metalloproteinases 5. In diabetic kidney disease, SETDB2 protects podocyte function by repressing SMAD3 expression through H3K9me3 modification 6. These diverse functions position SETDB2 as a critical epigenetic regulator linking chr13 modification to disease pathogenesis.

Sources cited
1
SETDB2 suppresses NF-κB-mediated inflammation in macrophages and is regulated by STAT3
PMID: 39435663
2
SETDB2 catalyzes H3K9me3 and contributes to therapy-induced cellular reprogramming and drug resistance
PMID: 30850015
3
SETDB2 expression correlates with prognosis and metastasis in renal cell carcinoma
PMID: 29099276
4
SETDB2 genetic variants are associated with handedness and left-right axis specification
PMID: 26572639
5
SETDB2 controls matrix metalloproteinase activity in abdominal aortic aneurysms by silencing TIMPs
PMID: 37325923
6
SETDB2 protects podocyte function in diabetic kidney disease by repressing SMAD3
PMID: 41316884
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.31Weak
breast cancerOpen Targets
0.09Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
Immunodeficiency due to a late component of complements deficiencyOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
acute myeloid leukemiaOpen Targets
0.07Suggestive
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiencyOpen Targets
0.07Suggestive
leukemiaOpen Targets
0.07Suggestive
X-linked severe congenital neutropeniaOpen Targets
0.07Suggestive
acute respiratory distress syndromeOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
infectionOpen Targets
0.06Suggestive
acute lymphoblastic leukemiaOpen Targets
0.06Suggestive
autosomal recessive severe congenital neutropenia due to CSF3R deficiencyOpen Targets
0.06Suggestive
isolated agammaglobulinemiaOpen Targets
0.06Suggestive
coronavirus infectious diseaseOpen Targets
0.06Suggestive
recurrent Neisseria infections due to factor D deficiencyOpen Targets
0.05Suggestive
Recurrent infection due to specific granule deficiencyOpen Targets
0.05Suggestive
autosomal recessive severe congenital neutropenia due to JAGN1 deficiencyOpen Targets
0.05Suggestive
WHIM syndrome 2Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PHF11Protein interaction99%H3C12Protein interaction99%ATF7IPProtein interaction95%ARL14EPProtein interaction95%CAMKMTProtein interaction75%ZMYM6Protein interaction72%
Tissue Expression6 tissues
Heart
100%
Ovary
81%
Bone Marrow
67%
Lung
46%
Liver
45%
Brain
28%
Gene Interaction Network
Click a node to explore
SETDB2PHF11H3C12ATF7IPARL14EPCAMKMTZMYM6
PROTEIN STRUCTURE
Preparing viewer…
PDB8HFP · 1.82 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.86LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.65 [0.50–0.86]
RankingsWhere SETDB2 stands among ~20K protein-coding genes
  • #11,235of 20,598
    Most Researched34
  • #7,506of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedSETDB2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The STAT3/SETDB2 axis dictates NF-κB-mediated inflammation in macrophages during wound repair.
PMID: 39435663
JCI Insight · 2024
1.00
2
Emerging roles of H3K9me3, SETDB1 and SETDB2 in therapy-induced cellular reprogramming.
PMID: 30850015
Clin Epigenetics · 2019
0.90
3
SETDB2 and RIOX2 are differentially expressed among renal cell tumor subtypes, associating with prognosis and metastization.
PMID: 29099276
Epigenetics · 2017
0.80
4
Left-Right Axis Differentiation and Functional Lateralization: a Haplotype in the Methyltransferase Encoding Gene SETDB2 Might Mediate Handedness in Healthy Adults.
PMID: 26572639
Mol Neurobiol · 2016
0.70
5
A drive in SUVs: From development to disease.
PMID: 28106510
Epigenetics · 2017
0.60