SMYD3: SET and MYND Domain Containing 3
A histone methyltransferase involved in transcriptional regulation and cancer
Gene Information Card
| Symbol | SMYD3 |
|---|---|
| Full Name | SET and MYND domain containing 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q44 |
| NCBI Gene ID | 64754 ncbi.nlm.nih.gov/gene/64754 |
| Ensembl ID | ENSG00000185420 |
| UniProt ID | Q9H7B4 |
| OMIM ID | 608783 |
| HGNC ID | 15513 |
| Aliases | ZMYND1, ZNFN3A1, bA74P14.1 |
Description
SMYD3 (SET and MYND domain containing 3) is a protein-coding gene that encodes a histone methyltransferase. The enzyme specifically methylates histone H3 at lysine 4 (H3K4me3) and lysine 5 of histone H4 (H4K5me), and also methylates non-histone proteins such as MAP3K2. SMYD3 is involved in transcriptional activation, cell proliferation, and signal transduction. Overexpression of SMYD3 has been implicated in various cancers, including colorectal, breast, and liver cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Overexpression of SMYD3 promotes cell proliferation and tumor growth by activating oncogenic pathways | PMID: 15156138 |
| Hepatocellular carcinoma | SMYD3 upregulation correlates with poor prognosis and increased metastasis | PMID: 19244118 |
| Breast cancer | SMYD3 enhances estrogen receptor signaling and tumor progression | PMID: 19632184 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Liver | 6.1 | Low |
| Colon | 4.7 | Low |
| Breast | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cells |
| HeLa | 10.8 | Cervical cancer cells |
| HCT 116 | 22.1 | Colorectal carcinoma cells |
| MCF7 | 18.5 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1100G>A (p.Arg367Gln) | Missense | Rare | Unknown functional effect |
| c.1243C>T (p.Arg415Trp) | Missense | Rare | Unknown functional effect |
| c.1462G>A (p.Glu488Lys) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in SMYD3.
Gain of Function (GOF)
Overexpression and amplification of SMYD3 are associated with oncogenic gain-of-function in multiple cancers.
Dominant Negative (DN)
No dominant-negative mutations reported for SMYD3.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • zinc ion binding (GO:0008270) |
| • histone-lysine N-methyltransferase activity (GO:0018024) | • histone H3-K4 methylation (GO:0035098) |
| • identical protein binding (GO:0042802) | • metal ion binding (GO:0046872) |
Pathways
• Histone methylation
• MAPK signaling pathway
• Transcriptional regulation by SMYD3
Protein Summary
SMYD3 is a 428-amino acid protein containing a SET domain, a MYND domain, and a zinc finger. It functions as a histone methyltransferase that methylates H3K4 and H4K5, leading to transcriptional activation. SMYD3 also methylates non-histone targets such as MAP3K2, enhancing MAPK signaling. The protein is predominantly nuclear and is overexpressed in several cancers, where it promotes cell proliferation and tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SMYD3 Knockout HEK293 Cell Line | EDJ-KQ12202 | Human | 64754 | Details Get a Quote |
| SMYD3 Knockout A-549 Cell Line | EDJ-KQ40929 | Human | 64754 | Details Get a Quote |
| SMYD3 Knockout HCT 116 Cell Line | EDJ-KQ40930 | Human | 64754 | Details Get a Quote |
| SMYD3 Knockout HeLa Cell Line | EDJ-KQ40931 | Human | 64754 | Details Get a Quote |
