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3 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SETD9
SET domain containing 9
Chromosome 5 · 5q11.2
NCBI Gene: 133383Ensembl: ENSG00000155542.13HGNC: HGNC:28508UniProt: Q8NE22
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmitochondrionlysine N-methyltransferase activityregulation of signal transduction by p53 class mediatorAbnormality of the skeletal systembreast cancertype 2 diabetes mellitusprostate carcinoma
✦AI Summary

SETD9 (SET domain containing 9) is a lysine N-methyltransferase localized to the nucleoplasm and mitochondrion that functions in protein binding and regulation of signal transduction by p53 class mediators. In the context of ischemic stroke, SETD9 emerges as a key node in the lncRNA-mRNA co-expression network responding to butylphthalide treatment, with molecular docking analysis suggesting it as a potential direct therapeutic target 1. SETD9 holds clinical relevance in breast cancer pathology, where SNP variants at the MAP3K1/SETD9 locus (5q11.2) strongly associate with somatic PIK3CA variants in estrogen receptor α-positive breast cancers, with odds ratios reaching 2.97 2. Notably, both SNVs and PIK3CA variants coordinately elevate MAP3K1 and SETD9 expression levels, suggesting synergistic regulation through PIK3CA-dependent mechanisms. In psoriasis vulgaris, SETD9 represents one of five key characteristic genes of blood-heat syndrome (BHS), a traditional Chinese medicine classification, demonstrating high diagnostic efficacy in distinguishing psoriasis vulgaris syndromes through machine learning analysis 3. These findings indicate SETD9's pleiotropic roles across neurological, oncological, and inflammatory disease contexts, though direct molecular mechanisms beyond its methyltransferase activity require further characterization.

Sources cited
1
SETD9 is identified as a key mRNA node in lncRNA-mRNA co-expression networks in ischemic stroke treated with butylphthalide, and molecular docking suggests it as a potential drug target
PMID: 40211238
2
SNP variants at MAP3K1/SETD9 locus associate with somatic PIK3CA variants in breast cancer with OR 2.97-6.5; SNVs and PIK3CA variants coordinately elevate SETD9 expression levels
PMID: 28029147
3
SETD9 is identified as one of five key characteristic genes for blood-heat syndrome in psoriasis vulgaris with high diagnostic efficacy using machine learning
PMID: 38645867
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.54Moderate
breast cancerOpen Targets
0.44Moderate
type 2 diabetes mellitusOpen Targets
0.27Weak
prostate carcinomaOpen Targets
0.21Weak
diabetes mellitusOpen Targets
0.20Weak
coronary atherosclerosisOpen Targets
0.16Weak
metabolic syndromeOpen Targets
0.13Weak
ependymomaOpen Targets
0.11Weak
luminal A breast carcinomaOpen Targets
0.08Suggestive
cardiovascular diseaseOpen Targets
0.08Suggestive
breast carcinomaOpen Targets
0.08Suggestive
hair colorOpen Targets
0.05Suggestive
hypertensive heart diseaseOpen Targets
0.05Suggestive
lung cancerOpen Targets
0.04Suggestive
Breast hypertrophyOpen Targets
0.04Suggestive
estrogen-receptor negative breast cancerOpen Targets
0.04Suggestive
colorectal cancerOpen Targets
0.04Suggestive
skin agingOpen Targets
0.04Suggestive
Abnormality of the breastOpen Targets
0.04Suggestive
luminal B breast carcinomaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
URB2Shared pathway50%MLF1Shared pathway33%TP53RKShared pathway33%PAK1IP1Shared pathway33%KMT5AShared pathway20%NUAK1Shared pathway20%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
89%
Liver
85%
Brain
52%
Lung
34%
Ovary
30%
Gene Interaction Network
Click a node to explore
SETD9URB2MLF1TP53RKPAK1IP1KMT5ANUAK1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8NE22
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.46LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.06 [0.78–1.46]
RankingsWhere SETD9 stands among ~20K protein-coding genes
  • #17,172of 20,598
    Most Researched10
  • #14,895of 17,882
    Most Constrained (LOEUF)1.46
Genes detectedSETD9
Sources retrieved3 papers
Response time—
📄 Sources
3
1
LncRNA-mRNA co-expression network in the mechanism of butylphthalide treatment for ischemic stroke.
PMID: 40211238
BMC Neurol · 2025
1.00
2
SNP variants at the MAP3K1/SETD9 locus 5q11.2 associate with somatic PIK3CA variants in breast cancers.
PMID: 28029147
Eur J Hum Genet · 2017
0.67
3
[Screening for Characteristic Genes of Different Traditional Chinese Medicine Syndromes of Psoriasis Vulgaris: A Study Based on Bioinformatics and Machine Learning].
PMID: 38645867
Sichuan Da Xue Xue Bao Yi Xue Ban · 2024
0.33