SETD9: SET Domain Containing 9, a Histone Methyltransferase
Comprehensive gene card for SETD9, including genomic context, expression, mutations, and disease associations.
Gene Information Card
| Symbol | SETD9 |
|---|---|
| Full Name | SET domain containing 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 100170841 ncbi.nlm.nih.gov/gene/100170841 |
| Ensembl ID | ENSG00000205670 |
| UniProt ID | A6NKF1 |
| OMIM ID | 618705 |
| HGNC ID | 37216 |
| Aliases | C5orf35, MGC16384 |
Description
SETD9 (SET domain containing 9) encodes a protein with a SET domain, which is characteristic of histone lysine methyltransferases. The protein is involved in chromatin regulation and may play a role in transcriptional control. Limited functional characterization is available, but it is predicted to methylate lysine residues on histones or other proteins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | Potential role in chromatin remodeling; altered expression observed in tumor samples. | COSMIC; TCGA data |
| Not yet associated with specific Mendelian disorders | No established disease mechanism. | OMIM; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 2.1 | Low |
| Brain | 1.5 | Low |
| Lung | 1.0 | Not detected |
| Liver | 0.8 | Not detected |
| Kidney | 0.6 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 1.8 | Low expression |
| HeLa | 1.2 | Low expression |
| K562 | 0.9 | Not detected |
| A549 | 0.7 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Potential loss of start codon; uncertain significance |
| c.100C>T (p.Arg34Trp) | Missense | <0.1% | Unknown functional effect |
| c.250G>A (p.Gly84Ser) | Missense | <0.1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • histone-lysine N-methyltransferase activity (GO:0018024) |
| • histone methyltransferase complex (GO:0035097) | • nucleus (GO:0005634) |
Pathways
• Chromatin modifying enzymes
• Histone methylation
Protein Summary
SETD9 is a 366-amino acid protein containing a SET domain. It is predicted to function as a histone lysine methyltransferase, though its specific substrates and biological roles remain largely uncharacterized. Expression is low across most tissues, with highest levels in testis and brain. No strong disease associations have been established, and mutations are rare in population databases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SETD9 Knockout HEK293 Cell Line | EDJ-KQ9312 | Human | 133383 | Details Get a Quote |
| SETD9 Knockout A-549 Cell Line | EDJ-KQ35935 | Human | 133383 | Details Get a Quote |
| SETD9 Knockout HeLa Cell Line | EDJ-KQ35937 | Human | 133383 | Details Get a Quote |
| SETD9 Knockout HCT 116 Cell Line | EDJ-KQ34694 | Human | 133383 | Details Get a Quote |
