SETMAR Gene (SET Domain and Mariner Transposase Fusion Gene)
SETMAR: A fusion gene encoding a histone methyltransferase and DNA-binding protein involved in DNA repair, chromatin regulation, and genomic stability.
Gene Information Card
| Symbol | SETMAR |
|---|---|
| Full Name | SET domain and mariner transposase fusion gene |
| Gene Type | Protein coding |
| Chromosomal Location | 3p26.1 |
| NCBI Gene ID | 6419 ncbi.nlm.nih.gov/gene/6419 |
| Ensembl ID | ENSG00000170364 |
| UniProt ID | Q53H47 |
| OMIM ID | 609955 |
| HGNC ID | 10762 |
| Aliases | METNASE, Hsmar1, Mariner1, MART-1 |
Description
SETMAR is a fusion gene that encodes a protein combining an N-terminal SET domain with histone methyltransferase activity and a C-terminal mariner transposase domain. The SET domain catalyzes the methylation of histone H3 at lysine 4 (H3K4me) and lysine 36 (H3K36me), while the transposase domain retains DNA-binding and nuclease activities. SETMAR plays roles in DNA double-strand break repair via non-homologous end joining (NHEJ), chromatin remodeling, and regulation of gene expression. It is involved in maintaining genomic stability and is implicated in cancer, particularly leukemia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia (AML) | SETMAR overexpression may promote genomic instability and leukemogenesis through aberrant DNA repair and chromatin modification. | PMID: 21572415; COSMIC |
| Myelodysplastic syndromes (MDS) | Altered SETMAR expression linked to chromosomal abnormalities and disease progression. | PMID: 21572415; COSMIC |
| Breast cancer | SETMAR expression changes associated with tumorigenesis and DNA repair dysregulation. | PMID: 21572415; COSMIC |
| Colorectal cancer | SETMAR upregulation may contribute to cancer cell proliferation and resistance to therapy. | PMID: 21572415; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 3.2 | Low |
| Lymph node | 2.8 | Low |
| Spleen | 2.5 | Low |
| Testis | 1.9 | Low |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 4.5 | Moderate expression |
| HEK293 (embryonic kidney) | 3.1 | Low expression |
| HeLa (cervical cancer) | 2.7 | Low expression |
| MCF7 (breast cancer) | 2.4 | Low expression |
| HepG2 (liver cancer) | 1.8 | Low expression |
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; functional impact unknown |
| c.1234C>T (p.Arg412Trp) | Missense | <0.1% | Located in transposase domain; may affect DNA binding |
| c.1567G>A (p.Glu523Lys) | Missense | <0.1% | Located in SET domain; may alter methyltransferase activity |
Mutation functional classification
Loss of Function (LOF)
Mutations in the SET domain (e.g., p.Glu523Lys) may reduce histone methyltransferase activity, impairing chromatin regulation and DNA repair.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in SETMAR.
Dominant Negative (DN)
No evidence for dominant-negative effects; SETMAR functions as a monomer.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003677 - DNA binding | • GO:0004519 - endonuclease activity |
| • GO:0005515 - protein binding | • GO:0005634 - nucleus |
| • GO:0006303 - double-strand break repair via nonhomologous end joining | • GO:0018024 - histone-lysine N-methyltransferase activity |
| • GO:0035097 - histone methyltransferase activity (H3-K4 specific) | • GO:0035098 - histone methyltransferase activity (H3-K36 specific) |
| • GO:0042802 - identical protein binding | • GO:0046982 - protein heterodimerization activity |
Pathways
• Non-homologous end joining (NHEJ) - DNA repair
• Chromatin modification - histone methylation
• DNA damage response
Protein Summary
The SETMAR protein (UniProt Q53H47) is a 671-amino acid nuclear protein with two functional domains: an N-terminal SET domain (residues 1-130) that methylates histone H3 at lysine 4 and 36, and a C-terminal mariner transposase domain (residues 340-671) that binds DNA and possesses endonuclease activity. The protein is involved in DNA double-strand break repair by promoting NHEJ, and in chromatin remodeling through histone methylation. SETMAR is expressed at low levels in hematopoietic tissues and is upregulated in certain cancers, particularly leukemia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SETMAR Knockout HEK293 Cell Line | EDJ-KQ5737 | Human | 6419 | Details Get a Quote |
| SETMAR Knockout A-549 Cell Line | EDJ-KQ29128 | Human | 6419 | Details Get a Quote |
| SETMAR Knockout HCT 116 Cell Line | EDJ-KQ29129 | Human | 6419 | Details Get a Quote |
| SETMAR Knockout HeLa Cell Line | EDJ-KQ29130 | Human | 6419 | Details Get a Quote |
| SETMAR Knockout HAP1 Cell Line | EDC08064 | Human | 6419 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
