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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SMYD4
SET and MYND domain containing 4
Chromosome 17 · 17p13.3
NCBI Gene: 114826Ensembl: ENSG00000186532.13HGNC: HGNC:21067UniProt: Q8IYR2
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
heart developmentprotein-lysine N-methyltransferase activitynucleuscytoplasmheart diseasechronic kidney diseaseHirsutismhair anomaly
✦AI Summary

SMYD4 is a protein-lysine N-methyltransferase that functions as both a histone and non-histone methyltransferase with critical roles in cardiac development and cancer regulation 1. The protein monomethylates key substrates including PRMT5, modulating its transcriptional activity and forming regulatory feedback loops 1. SMYD4 also monomethylates MYH9, promoting its ubiquitination and degradation, which inhibits WNT signaling pathway activation 2. In cardiac development, SMYD4 acts as a key epigenetic regulator through dual activities as a methyltransferase and negative regulator of HDAC1, with loss-of-function mutations causing severe cardiac malformations including defects in left-right patterning and hypoplastic ventricles 3. Functionally, SMYD4 serves as a tumor suppressor in most cancer types, showing consistent downregulation and heterozygous loss across solid tumors 4. In breast cancer, SMYD4 disruption leads to tumorigenesis, while re-expression suppresses tumor growth 5. However, in hepatocellular carcinoma, SMYD4 acts as an oncogene, promoting proliferation and metastasis through PRMT5 activation 1. Clinically, SMYD4 expression levels correlate with patient prognosis, with low expression associated with poor survival outcomes in certain tumor types 4.

Sources cited
1
SMYD4 is a protein-lysine N-methyltransferase that monomethylates PRMT5 and acts as an oncogene in hepatocellular carcinoma
PMID: 38438251
2
SMYD4 monomethylates MYH9, promoting its ubiquitination and inhibiting WNT signaling in breast cancer
PMID: 39930544
3
SMYD4 is critical for cardiac development and acts as epigenetic regulator through methyltransferase activity and HDAC1 interaction
PMID: 30110327
4
SMYD4 shows consistent downregulation across solid tumors and functions as a tumor suppressor with prognostic significance
PMID: 38892284
5
SMYD4 disruption leads to breast cancer tumorigenesis while re-expression suppresses tumor growth
PMID: 19383909
Disease Associationsⓘ20
heart diseaseOpen Targets
0.22Weak
chronic kidney diseaseOpen Targets
0.20Weak
HirsutismOpen Targets
0.20Weak
hair anomalyOpen Targets
0.15Weak
glomerulonephritisOpen Targets
0.13Weak
breast cancerOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
46,XY complete gonadal dysgenesisOpen Targets
0.05Suggestive
hypogonadotropic hypogonadism 11 with or without anosmiaOpen Targets
0.05Suggestive
Testicular regression syndromeOpen Targets
0.05Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.04Suggestive
non-small cell lung adenocarcinomaOpen Targets
0.04Suggestive
spinocerebellar ataxia type 32Open Targets
0.04Suggestive
46,XY disorder of sex development due to isolated 17,20 lyase deficiencyOpen Targets
0.04Suggestive
Isolated follicle stimulating hormone deficiencyOpen Targets
0.03Suggestive
glycogen storage disease IIIOpen Targets
0.03Suggestive
hyperinsulinism due to INSR deficiencyOpen Targets
0.03Suggestive
neonatal intrahepatic cholestasis due to citrin deficiencyOpen Targets
0.03Suggestive
glycogen storage disease VIOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ADAP2Shared pathway100%SMYD5Protein interaction85%SMYD3Shared pathway50%HEG1Shared pathway33%ALPK3Shared pathway33%HSPB7Shared pathway33%
Tissue Expression6 tissues
Ovary
100%
Heart
71%
Lung
70%
Liver
52%
Brain
41%
Bone Marrow
29%
Gene Interaction Network
Click a node to explore
SMYD4ADAP2SMYD5SMYD3HEG1ALPK3HSPB7
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IYR2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.15LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.93 [0.76–1.15]
RankingsWhere SMYD4 stands among ~20K protein-coding genes
  • #13,313of 20,598
    Most Researched24
  • #11,904of 17,882
    Most Constrained (LOEUF)1.15
Genes detectedSMYD4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
SMYD4 monomethylates PRMT5 and forms a positive feedback loop to promote hepatocellular carcinoma progression.
PMID: 38438251
Cancer Sci · 2024
1.00
2
SMYD4 promotes MYH9 ubiquitination through lysine monomethylation modification to inhibit breast cancer progression.
PMID: 39930544
Breast Cancer Res · 2025
0.90
3
Functions of SMYD proteins in biological processes: What do we know? An updated review.
PMID: 34555372
Arch Biochem Biophys · 2021
0.80
4
Identification of Smyd4 as a potential tumor suppressor gene involved in breast cancer development.
PMID: 19383909
Cancer Res · 2009
0.70
5
The roles of SMYD4 in epigenetic regulation of cardiac development in zebrafish.
PMID: 30110327
PLoS Genet · 2018
0.60