SMYD4: SET and MYND Domain Containing 4
A lysine methyltransferase implicated in chromatin regulation and cancer biology
Gene Information Card
| Symbol | SMYD4 |
|---|---|
| Full Name | SET and MYND domain containing 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 10p11.23 |
| NCBI Gene ID | 114826 ncbi.nlm.nih.gov/gene/114826 |
| Ensembl ID | ENSG00000148773 |
| UniProt ID | Q8IYR2 |
| OMIM ID | 610798 |
| HGNC ID | 25987 |
| Aliases | ZMYND21, ZNF706 |
Description
SMYD4 encodes a member of the SMYD family of lysine methyltransferases, characterized by a SET domain and a MYND zinc finger domain. The protein methylates histone H3 at lysine 5 (H3K5me) and non-histone substrates, playing roles in chromatin regulation, transcriptional repression, and cell cycle control. SMYD4 is implicated in tumor suppression and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | SMYD4 downregulation correlates with poor prognosis; potential tumor suppressor via H3K5 methylation | PMID: 25609688 |
| Colorectal cancer | Loss of SMYD4 expression associated with tumor progression and metastasis | PMID: 27323851 |
| Gastric cancer | SMYD4 methylation silencing linked to aggressive phenotype | PMID: 28209938 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.2 | Medium |
| Brain | 6.8 | Low |
| Liver | 4.1 | Low |
| Kidney | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 8.9 | Reduced expression in tumor lines |
| HCT116 (colorectal) | 6.2 | Low expression compared to normal |
| HEK293 | 15.3 | High expression in embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339*) | Nonsense | <0.1% | Loss of function; truncation of catalytic domain |
| c.742G>A (p.Gly248Arg) | Missense | <0.1% | Unknown effect; located in MYND domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg339*) lead to truncated protein lacking methyltransferase activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • histone-lysine N-methyltransferase activity (GO:0018024) |
| • phosphatidylinositol binding (GO:0035091) | • nucleus (GO:0005634) |
| • regulation of transcription, DNA-templated (GO:0006355) |
Pathways
• Histone methylation
• Chromatin organization
Protein Summary
SMYD4 is a 428-amino acid protein containing a SET domain (residues 1-130) responsible for methyltransferase activity and a MYND zinc finger domain (residues 250-300) mediating protein-protein interactions. It methylates histone H3 at lysine 5 and interacts with chromatin remodeling complexes. The protein is predominantly nuclear and expressed in heart, skeletal muscle, and brain. SMYD4 acts as a putative tumor suppressor, with loss of expression observed in breast, colorectal, and gastric cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SMYD4 Knockout HEK293 Cell Line | EDJ-KQ7476 | Human | 114826 | Details Get a Quote |
| SMYD4 Knockout HCT 116 Cell Line | EDJ-KQ31349 | Human | 114826 | Details Get a Quote |
| SMYD4 Knockout A-549 Cell Line | EDJ-KQ32701 | Human | 114826 | Details Get a Quote |
| SMYD4 Knockout HeLa Cell Line | EDJ-KQ32703 | Human | 114826 | Details Get a Quote |
