SETD6
SET Domain Containing 6, Lysine Methyltransferase
Gene Information Card
| Symbol | SETD6 |
|---|---|
| Full Name | SET Domain Containing 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q21 |
| NCBI Gene ID | 79918 ncbi.nlm.nih.gov/gene/79918 |
| Ensembl ID | ENSG00000103056 |
| UniProt ID | Q8TBK2 |
| OMIM ID | 616424 |
| HGNC ID | 26106 |
| Aliases | FLJ12673, MGC131944 |
Description
SETD6 is a protein-coding gene that encodes a lysine methyltransferase. The enzyme specifically methylates histone H2A at lysine 7 (H2AK7me1) and also methylates non-histone substrates such as NF-κB subunit RelA (p65) at lysine 310, leading to repression of NF-κB target genes. SETD6 plays roles in chromatin regulation, transcriptional repression, and cellular signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | SETD6 overexpression may promote tumor growth via methylation of RelA and activation of oncogenic pathways. | PMID: 25732826 |
| Prostate cancer | SETD6 expression is altered and may influence androgen receptor signaling. | PMID: 29367642 |
| Inflammatory diseases | SETD6-mediated methylation of RelA represses NF-κB activity, linking it to chronic inflammation. | PMID: 22179047 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Kidney | 5.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney cells |
| HeLa | 7.5 | Cervical cancer cells |
| MCF7 | 9.1 | Breast cancer cells |
| HepG2 | 5.3 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Unknown functional impact |
| c.1234G>A (p.Gly412Arg) | Missense | <0.01% | Predicted damaging (SIFT) |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • protein binding (GO:0005515) |
| • histone-lysine N-methyltransferase activity (GO:0018024) | • regulation of transcription (GO:0006355) |
| • negative regulation of transcription (GO:0045892) |
Pathways
• NF-kappa B signaling pathway (Reactome: R-HSA-9013408)
• Chromatin modifying enzymes (Reactome: R-HSA-3247509)
Protein Summary
SETD6 is a 648-amino acid protein containing a SET domain responsible for methyltransferase activity. It monomethylates histone H2A at lysine 7 (H2AK7me1) and methylates RelA at lysine 310, repressing NF-κB transcriptional activity. The protein is localized to the nucleus and is involved in chromatin remodeling and gene silencing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SETD6 Knockout HEK293 Cell Line | EDJ-KQ15236 | Human | 79918 | Details Get a Quote |
| SETD6 Knockout HCT 116 Cell Line | EDJ-KQ45908 | Human | 79918 | Details Get a Quote |
| SETD6 Knockout HeLa Cell Line | EDJ-KQ45909 | Human | 79918 | Details Get a Quote |
| SETD6 Knockout A-549 Cell Line | EDJ-KQ48094 | Human | 79918 | Details Get a Quote |
