SMYD5 Gene - SET and MYND Domain Containing 5
A lysine methyltransferase involved in transcriptional regulation and cancer biology
Gene Information Card
| Symbol | SMYD5 |
|---|---|
| Full Name | SET and MYND domain containing 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p13.1 |
| NCBI Gene ID | 10322 ncbi.nlm.nih.gov/gene/10322 |
| Ensembl ID | ENSG00000115145 |
| UniProt ID | Q6GMV3 |
| OMIM ID | 617846 |
| HGNC ID | 25297 |
| Aliases | ZMYND23, RAI15, SMYD5 |
Description
SMYD5 (SET and MYND domain containing 5) encodes a lysine methyltransferase that specifically methylates histone H4 at lysine 20 (H4K20me3) and non-histone proteins. It is involved in transcriptional repression, chromatin remodeling, and regulation of developmental processes. SMYD5 has been implicated in cancer progression and immune regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | SMYD5 overexpression promotes H4K20me3-mediated repression of tumor suppressor genes | COSMIC, PubMed |
| Breast cancer | SMYD5 amplification correlates with poor prognosis and altered methylation patterns | COSMIC, PubMed |
| Colorectal cancer | SMYD5 upregulation associated with Wnt/β-catenin pathway activation | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Liver | 8.2 | Low |
| Breast | 6.1 | Low |
| Colon | 5.4 | Low |
| Brain | 3.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocellular carcinoma cell line |
| MCF7 | 7.3 | Breast cancer cell line |
| HT-29 | 6.8 | Colorectal adenocarcinoma cell line |
| HEK293 | 4.5 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown functional effect |
| c.1246G>A (p.Gly416Ser) | Missense | <0.01% | Unknown functional effect |
| Amplification | Copy number gain | 1-2% in breast cancer | Potential gain of function |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
Amplification and overexpression observed in several cancers suggest potential gain-of-function role.
Dominant Negative (DN)
No evidence for dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • histone-lysine N-methyltransferase activity (GO:0018024) |
| • histone methyltransferase activity (H4-K20 specific) (GO:0042800) | • nucleus (GO:0005634) |
| • chromatin organization (GO:0006325) | • negative regulation of transcription by RNA polymerase II (GO:0000122) |
Pathways
• Histone methylation
• Chromatin modifying enzymes
• Transcriptional regulation by SMYD5
Protein Summary
SMYD5 is a 418-amino acid protein containing a SET domain and a MYND zinc finger domain. It functions as a histone methyltransferase that catalyzes H4K20 trimethylation, a mark associated with heterochromatin and gene silencing. SMYD5 also methylates non-histone substrates and interacts with transcription factors to regulate gene expression. Its overexpression in multiple cancers suggests a role in tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SMYD5 Knockout HEK293 Cell Line | EDJ-KQ3921 | Human | 10322 | Details Get a Quote |
| SMYD5 Knockout A-549 Cell Line | EDJ-KQ26151 | Human | 10322 | Details Get a Quote |
| SMYD5 Knockout HeLa Cell Line | EDJ-KQ26153 | Human | 10322 | Details Get a Quote |
| SMYD5 Knockout HCT 116 Cell Line | EDJ-KQ24809 | Human | 10322 | Details Get a Quote |
