SMYD2 (SET and MYND Domain Containing 2) Gene
A lysine methyltransferase involved in cancer, cardiac function, and epigenetic regulation.
Gene Information Card
| Symbol | SMYD2 |
|---|---|
| Full Name | SET and MYND domain containing 2 |
| Gene Type | protein coding |
| Chromosomal Location | 1q32.3 |
| NCBI Gene ID | 56950 ncbi.nlm.nih.gov/gene/56950 |
| Ensembl ID | ENSG00000143499 |
| UniProt ID | Q9NRG4 |
| OMIM ID | 610663 |
| HGNC ID | HGNC:29082 |
| Aliases | HSKM-B, KMT3C, ZMYND14 |
Description
SMYD2 (SET and MYND domain containing 2) is a protein-coding gene located on chromosome 1q32.3. It encodes a lysine methyltransferase that methylates both histone and non-histone proteins, including p53, RB1, and HSP90. SMYD2 is involved in transcriptional regulation, cell cycle control, and DNA damage response. It is overexpressed in various cancers and plays a role in cardiac development and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression and methyltransferase activity promote tumorigenesis via methylation of tumor suppressors (e.g., p53, RB1) and oncogenic signaling. | COSMIC, PubMed (via NCBI) |
| Cardiac hypertrophy | SMYD2 methylates HSP90 and regulates cardiac stress responses; altered expression linked to hypertrophy. | UniProt, PubMed (via NCBI) |
| Esophageal squamous cell carcinoma | High expression correlates with poor prognosis; promotes cell proliferation and invasion. | COSMIC, PubMed (via NCBI) |
| Gastric cancer | Overexpression enhances tumor growth; knockdown reduces viability. | COSMIC, PubMed (via NCBI) |
| Hepatocellular carcinoma | Upregulation associated with aggressive phenotype and metastasis. | COSMIC, PubMed (via NCBI) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | High | High |
| Skeletal muscle | High | High |
| Brain | Medium | Medium |
| Liver | Medium | Medium |
| Kidney | Medium | Medium |
| Lung | Low | Low |
| Pancreas | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical cancer) | High | Overexpressed; promotes proliferation |
| MCF7 (breast cancer) | High | Overexpressed; associated with tumor growth |
| A549 (lung cancer) | Medium | Moderate expression; role in invasion |
| HepG2 (liver cancer) | Medium | Upregulated in hepatocellular carcinoma |
| K562 (leukemia) | Low | Low expression; not a major driver |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.R243W | Missense | Rare (COSMIC) | Alters substrate specificity; potential gain-of-function |
| p.E339K | Missense | Rare (COSMIC) | May affect catalytic activity; functional impact unclear |
| p.P250S | Missense | Rare (COSMIC) | Located near active site; possible loss-of-function |
| p.G394R | Missense | Rare (COSMIC) | Unknown; likely neutral |
| p.R431Q | Missense | Rare (COSMIC) | Unknown; may affect protein stability |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce methyltransferase activity or protein stability, potentially impairing tumor suppressor methylation and leading to dysregulated cell growth.
Gain of Function (GOF)
Mutations that enhance enzymatic activity or alter substrate specificity, promoting oncogenic signaling and tumor progression.
Dominant Negative (DN)
Mutations that produce a defective protein interfering with wild-type SMYD2 function, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • methyltransferase activity | • histone-lysine N-methyltransferase activity |
| • protein-lysine N-methyltransferase activity | • zinc ion binding |
| • nucleus | • cytoplasm |
| • regulation of transcription | • DNA-templated |
| • cell cycle | • DNA damage response |
| • protein methylation |
Pathways
• p53 signaling pathway
• RB1 tumor suppressor pathway
• HSP90 chaperone complex
• Epigenetic regulation of gene expression
Protein Summary
The SMYD2 protein is a SET and MYND domain-containing lysine methyltransferase. It methylates histone H3 at lysine 4 (H3K4) and lysine 36 (H3K36), as well as non-histone substrates such as p53 (at lysine 370), RB1 (at lysine 810), and HSP90. These methylation events regulate transcriptional activity, cell cycle progression, and apoptosis. SMYD2 is predominantly nuclear but also shuttles to the cytoplasm. Its overexpression in cancers suggests a role as an oncogene, while its cardiac expression indicates involvement in heart development and stress responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SMYD2 Knockout HEK293 Cell Line | EDJ-KQ2135 | Human | 56950 | Details Get a Quote |
| SMYD2 Knockout A-549 Cell Line | EDJ-KQ22296 | Human | 56950 | Details Get a Quote |
| SMYD2 Knockout HCT 116 Cell Line | EDJ-KQ22297 | Human | 56950 | Details Get a Quote |
| SMYD2 Knockout HeLa Cell Line | EDJ-KQ22298 | Human | 56950 | Details Get a Quote |
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