SETD7: SET Domain Containing 7, Histone Lysine Methyltransferase
A key epigenetic regulator involved in transcriptional activation, cell cycle control, and DNA damage response.
Gene Information Card
| Symbol | SETD7 |
|---|---|
| Full Name | SET domain containing 7, histone lysine methyltransferase |
| Gene Type | Protein coding |
| Chromosomal Location | 4q28.1 |
| NCBI Gene ID | 80854 ncbi.nlm.nih.gov/gene/80854 |
| Ensembl ID | ENSG00000141027 |
| UniProt ID | Q8WTS6 |
| OMIM ID | 606594 |
| HGNC ID | 26012 |
| Aliases | SET7, SET7/9, KIAA1717, H3-K4-HMTase |
Description
SETD7 (SET domain containing 7) encodes a lysine methyltransferase that specifically monomethylates histone H3 at lysine 4 (H3K4me1), a mark associated with transcriptional activation. The enzyme also methylates non-histone proteins such as p53, TAF10, and DNMT1, thereby regulating transcription, cell cycle progression, and DNA repair. SETD7 is widely expressed and plays roles in cellular differentiation, metabolism, and stress response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | SETD7-mediated methylation of p53 at K372 enhances p53 stability and transcriptional activity; loss of SETD7 expression correlates with poor prognosis. | PMID: 17041588; COSMIC |
| Colorectal cancer | Reduced SETD7 expression is associated with promoter hypermethylation and tumor progression. | PMID: 23593029; COSMIC |
| Type 2 diabetes | SETD7 regulates insulin secretion and beta-cell function via H3K4 methylation of key metabolic genes. | PMID: 25605871; OMIM 606594 |
| Cardiovascular disease | SETD7 methylates ERK1/2 and NF-κB, influencing inflammatory responses in endothelial cells. | PMID: 27457971 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Heart | 8.7 | Medium |
| Brain | 6.3 | Low |
| Lung | 9.1 | Medium |
| Pancreas | 11.8 | Medium |
| Testis | 15.4 | High |
| Spleen | 7.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | Embryonic kidney cells; high expression |
| HeLa | 11.5 | Cervical carcinoma; moderate expression |
| MCF7 | 9.8 | Breast cancer; moderate expression |
| HepG2 | 13.1 | Hepatocellular carcinoma; high expression |
| A549 | 10.6 | Lung carcinoma; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.103C>T (p.Arg35Cys) | Missense | <0.1% | Unknown; likely benign |
| c.497G>A (p.Arg166Gln) | Missense | <0.1% | Unknown; possibly damaging |
| c.1120G>A (p.Glu374Lys) | Missense | <0.1% | Unknown; likely benign |
| c.1345C>T (p.Arg449Trp) | Missense | <0.1% | Unknown; possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in SETD7 are rare but may reduce H3K4 methyltransferase activity, leading to decreased transcriptional activation of target genes such as p53 and TAF10.
Gain of Function (GOF)
No gain-of-function mutations have been reported in SETD7.
Dominant Negative (DN)
No dominant-negative mutations have been described for SETD7.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • zinc ion binding (GO:0008270) |
| • histone-lysine N-methyltransferase activity (GO:0018024) | • identical protein binding (GO:0042802) |
| • transcription regulatory region DNA binding (GO:0044212) | • regulation of transcription (GO:0006355) |
| • cellular response to DNA damage stimulus (GO:0006974) | • cell cycle (GO:0007049) |
Pathways
• Histone methylation (H3-K4)
• p53 signaling pathway
• Transcriptional regulation by TAF10
• DNA methylation regulation via DNMT1
• ERK/MAPK signaling
Protein Summary
SETD7 is a 366-amino acid lysine methyltransferase that contains a conserved SET domain. It monomethylates histone H3 at lysine 4 (H3K4me1) and also methylates non-histone substrates including p53 (K372), TAF10 (K189), and DNMT1 (K142). Through these actions, SETD7 regulates gene expression, cell cycle arrest, apoptosis, and DNA repair. The protein is predominantly nuclear and is expressed in multiple tissues, with highest levels in testis and liver.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SETD7 Knockout HEK293 Cell Line | EDJ-KQ965 | Human | 80854 | Details Get a Quote |
| SETD7 Knockout A-549 Cell Line | EDJ-KQ19967 | Human | 80854 | Details Get a Quote |
| SETD7 Knockout HCT 116 Cell Line | EDJ-KQ19968 | Human | 80854 | Details Get a Quote |
| SETD7 Knockout HeLa Cell Line | EDJ-KQ19969 | Human | 80854 | Details Get a Quote |
