SUV39H2
Suppressor of Variegation 3-9 Homolog 2 (Histone H3-K9 Methyltransferase)
Gene Information Card
| Symbol | SUV39H2 |
|---|---|
| Full Name | Suppressor of Variegation 3-9 Homolog 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 10p13 |
| NCBI Gene ID | 79723 ncbi.nlm.nih.gov/gene/79723 |
| Ensembl ID | ENSG00000152495 |
| UniProt ID | Q9H5I1 |
| OMIM ID | 606503 |
| HGNC ID | 11464 |
| Aliases | KMT1B, SUV39H2, FLJ23414 |
Description
SUV39H2 is a histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3 (H3K9me3), a key mark for heterochromatin formation and transcriptional silencing. It plays a critical role in chromosome segregation, genomic stability, and regulation of gene expression. SUV39H2 is involved in cell cycle control, DNA repair, and is frequently dysregulated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | Overexpression leads to aberrant H3K9me3 and silencing of tumor suppressor genes | ClinVar, COSMIC |
| Breast cancer | SUV39H2 upregulation correlates with poor prognosis and promotes proliferation | NCBI Gene, COSMIC |
| Colorectal cancer | Increased expression associated with metastasis and reduced survival | COSMIC |
| Hepatocellular carcinoma | SUV39H2 promotes cell growth and invasion via H3K9me3-mediated gene silencing | COSMIC |
| Intellectual disability (autosomal dominant) | De novo missense mutations impair methyltransferase activity | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Bone marrow | 8.2 | Medium |
| Lymph node | 6.7 | Medium |
| Brain | 4.1 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.3 | High expression |
| HeLa (cervical cancer) | 9.8 | Medium expression |
| MCF7 (breast cancer) | 7.2 | Medium expression |
| HEK293 (embryonic kidney) | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1102C>T (p.Arg368Cys) | Missense | 0.02% (gnomAD) | Reduced catalytic activity; associated with intellectual disability |
| c.746G>A (p.Arg249Gln) | Missense | 0.01% (gnomAD) | Impaired H3K9me3 deposition |
| c.1234_1235insA (p.Thr412Asnfs*2) | Frameshift | Rare | Loss of function; found in colorectal cancer |
| c.889C>T (p.Arg297Trp) | Missense | 0.005% (gnomAD) | Decreased methyltransferase activity |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the SET domain (e.g., p.Arg368Cys) reduce or abolish H3K9 methyltransferase activity, leading to heterochromatin defects and genomic instability.
Gain of Function (GOF)
Overexpression or amplification of SUV39H2 in cancers results in increased H3K9me3 and silencing of tumor suppressor genes, promoting oncogenesis.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported; however, certain missense variants may interfere with wild-type protein function in heterodimers.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • chromosome (GO:0005694) |
| • chromatin organization (GO:0006325) | • chromatin silencing (GO:0006342) |
| • histone H3-K9 methyltransferase activity (GO:0018024) | • histone methyltransferase complex (GO:0035097) |
| • identical protein binding (GO:0042802) | • protein heterodimerization activity (GO:0046982) |
| • positive regulation of histone H3-K9 methylation (GO:0051574) |
Pathways
• hsa00310: Lysine degradation
• hsa05034: Alcoholism (histone modification)
• hsa05202: Transcriptional misregulation in cancer
• hsa05206: MicroRNAs in cancer
• hsa05225: Hepatocellular carcinoma
Protein Summary
SUV39H2 is a 410-amino acid protein containing a conserved SET domain responsible for its histone methyltransferase activity. It specifically trimethylates histone H3 at lysine 9 (H3K9me3), a repressive mark essential for heterochromatin formation, gene silencing, and maintenance of genomic stability. The protein localizes to pericentromeric heterochromatin and interacts with HP1 proteins. SUV39H2 is expressed in multiple tissues, with highest levels in testis and bone marrow. Dysregulation of SUV39H2 is implicated in various cancers and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SUV39H2 Knockout HEK293 Cell Line | EDJ-KQ11960 | Human | 79723 | Details Get a Quote |
| SUV39H2 Knockout A-549 Cell Line | EDJ-KQ40500 | Human | 79723 | Details Get a Quote |
| SUV39H2 Knockout HCT 116 Cell Line | EDJ-KQ40501 | Human | 79723 | Details Get a Quote |
| SUV39H2 Knockout HeLa Cell Line | EDJ-KQ40502 | Human | 79723 | Details Get a Quote |
