This gene encodes a histone methyltransferase which functions in RNA polymerase II complexes by an interaction with a specific RNA helicase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] See more...

Aliases for SMYD3 Gene

Aliases for SMYD3 Gene

  • SET And MYND Domain Containing 3 2 3 5
  • Zinc Finger MYND Domain-Containing Protein 1 3 4
  • Histone-Lysine N-Methyltransferase SMYD3 3 4
  • SET And MYND Domain-Containing Protein 3 3 4
  • Zinc Finger, MYND Domain Containing 1 2 3
  • ZNFN3A1 3 4
  • ZMYND1 3 4
  • KMT3E 2 3
  • Zinc Finger Protein, Subfamily 3A (MYND Domain Containing), 1 3
  • EC 4
  • EC 50
  • BA74P14.1 3
  • EC 2.1.1 50
  • SMYD3 5

External Ids for SMYD3 Gene

Previous HGNC Symbols for SMYD3 Gene

  • ZNFN3A1
  • ZMYND1

Previous GeneCards Identifiers for SMYD3 Gene

  • GC01M242118
  • GC01M242859
  • GC01M242239
  • GC01M243979
  • GC01M245912
  • GC01M216300

Summaries for SMYD3 Gene

Entrez Gene Summary for SMYD3 Gene

  • This gene encodes a histone methyltransferase which functions in RNA polymerase II complexes by an interaction with a specific RNA helicase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

GeneCards Summary for SMYD3 Gene

SMYD3 (SET And MYND Domain Containing 3) is a Protein Coding gene. Diseases associated with SMYD3 include Cerebellar Ataxia, Nonprogressive, With Mental Retardation and Renal Wilms' Tumor. Among its related pathways are Chromatin organization and Lysine degradation. Gene Ontology (GO) annotations related to this gene include RNA polymerase II core promoter sequence-specific DNA binding and RNA polymerase II complex binding. An important paralog of this gene is SMYD2.

UniProtKB/Swiss-Prot Summary for SMYD3 Gene

  • Histone methyltransferase. Specifically methylates 'Lys-4' of histone H3, inducing di- and tri-methylation, but not monomethylation (PubMed:15235609, PubMed:22419068). Also methylates 'Lys-5' of histone H4 (PubMed:22419068). Plays an important role in transcriptional activation as a member of an RNA polymerase complex (PubMed:15235609). Binds DNA containing 5'-CCCTCC-3' or 5'-GAGGGG-3' sequences (PubMed:15235609).

Gene Wiki entry for SMYD3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SMYD3 Gene

Genomics for SMYD3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SMYD3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J246506 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 263.8 +0.2 212 3.4 MYC IKZF1 ZMYM3 POLR2A NFIC BHLHE40 ZNF341 MNT SIN3A THAP11 SMYD3 lnc-CNST-5 ZNF669 ZNF496 ZNF670-ZNF695 AHCTF1 CNST ENSG00000227728 TFB2M HSALNG0012181
GH01J246564 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 7.4 -61.8 -61774 10.2 BCLAF1 MYC IKZF1 ZNF592 KLF9 POLR2A CEBPA BRCA1 NFIC YY1 CNST TFB2M ZNF669 ZNF670-ZNF695 AHCTF1 ZNF496 ZNF124 SMYD3 LINC01341 ENSG00000225300
GH01J246575 Promoter/Enhancer 1.8 EPDnew FANTOM5 ENCODE dbSUPER 6.9 -73.7 -73711 10.2 NCOR1 IKZF1 ZNF592 KLF9 CEBPA ATF3 NFIC CHD4 YY1 MXD4 CNST ZNF669 AHCTF1 SMYD3 ENSG00000225300 TFB2M SCCPDH
GH01J246502 Enhancer 0.9 Ensembl ENCODE 9.8 +3.7 3711 1.6 JUND ZNF217 ELF1 CTBP1 CUX1 SMARCE1 PKNOX1 FOXA1 DPF2 TOE1 SMYD3 LINC02897 HSALNG0012181
GH01J246497 Enhancer 0.8 Ensembl ENCODE 8.8 +9.5 9487 1.2 CTCF REST DEK TRIM22 HOMEZ ZNF217 RAD21 RFX5 SMC3 GATA3 SMYD3 TFB2M HSALNG0012181
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SMYD3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SMYD3

Genomic Locations for SMYD3 Gene

Latest Assembly
757,971 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
757,933 bases
Minus strand

(GRCh37/hg19 by Ensembl)
757,973 bases
Minus strand

Genomic View for SMYD3 Gene

Genes around SMYD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMYD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMYD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMYD3 Gene

Proteins for SMYD3 Gene

  • Protein details for SMYD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Histone-lysine N-methyltransferase SMYD3
    Protein Accession:
    Secondary Accessions:
    • A8K0P0
    • B1AN38
    • Q86TL8
    • Q8N5Z6
    • Q96AI5

    Protein attributes for SMYD3 Gene

    428 amino acids
    Molecular mass:
    49097 Da
    Quaternary structure:
    • Interacts with HSPCA (PubMed:15235609). Interacts with HELZ (PubMed:15235609). Interacts with POLR2A; the interaction may be indirect and may be mediated by HELZ (PubMed:15235609). Interacts with HSP90AA1; this interaction enhances SMYD3 histone-lysine N-methyltransferase (PubMed:25738358).

    Three dimensional structures from OCA and Proteopedia for SMYD3 Gene

    Alternative splice isoforms for SMYD3 Gene


neXtProt entry for SMYD3 Gene

Selected DME Specific Peptides for SMYD3 Gene


Post-translational modifications for SMYD3 Gene

  • Ubiquitination at Lys378 and Lys391
  • Modification sites at PhosphoSitePlus

Domains & Families for SMYD3 Gene

Gene Families for SMYD3 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for SMYD3 Gene

  • Nuclear protein SET
  • Zn-finger, MYND type

Suggested Antigen Peptide Sequences for SMYD3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ13532 fis, clone PLACE1006318, highly similar to SET and MYND domain-containing protein 3 (EC (B3KN46_HUMAN)
  • SMYD3 protein (Q3B7A0_HUMAN)
  • Zinc finger MYND domain-containing protein 1 (SMYD3_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family.
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family.
genes like me logo Genes that share domains with SMYD3: view

Function for SMYD3 Gene

Molecular function for SMYD3 Gene

UniProtKB/Swiss-Prot Function:
Histone methyltransferase. Specifically methylates 'Lys-4' of histone H3, inducing di- and tri-methylation, but not monomethylation (PubMed:15235609, PubMed:22419068). Also methylates 'Lys-5' of histone H4 (PubMed:22419068). Plays an important role in transcriptional activation as a member of an RNA polymerase complex (PubMed:15235609). Binds DNA containing 5'-CCCTCC-3' or 5'-GAGGGG-3' sequences (PubMed:15235609).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-lysyl(4)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(4)-[histone H3] + 3 S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:60260, Rhea:RHEA-COMP:15537, Rhea:RHEA-COMP:15547, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61961; EC=; Evidence={ECO:0000255|PROSITE-ProRule:PRU00907, ECO:0000269|PubMed:15235609, ECO:0000269|PubMed:22419068};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Histone methyltransferase activity strongly stimulated by HSPCA.

Enzyme Numbers (IUBMB) for SMYD3 Gene

Phenotypes From GWAS Catalog for SMYD3 Gene

Gene Ontology (GO) - Molecular Function for SMYD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000993 RNA polymerase II complex binding IEA --
GO:0001162 RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding IEA --
GO:0005515 protein binding IEA,IPI 25738358
GO:0008168 methyltransferase activity IEA --
genes like me logo Genes that share ontologies with SMYD3: view
genes like me logo Genes that share phenotypes with SMYD3: view

Animal Models for SMYD3 Gene

MGI Knock Outs for SMYD3:
  • Smyd3 Smyd3<tm2a(KOMP)Wtsi>

miRNA for SMYD3 Gene

miRTarBase miRNAs that target SMYD3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMYD3

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SMYD3 Gene

Localization for SMYD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMYD3 Gene

Cytoplasm. Nucleus. Note=Mainly cytoplasmic when cells are arrested at G0/G1. Accumulates in the nucleus at S phase and G2/M. {ECO:0000269 PubMed:15235609}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SMYD3 gene
Compartment Confidence
nucleus 5
cytosol 4
extracellular 2
mitochondrion 2
golgi apparatus 2
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SMYD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 25738358
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with SMYD3: view

Pathways & Interactions for SMYD3 Gene

genes like me logo Genes that share pathways with SMYD3: view

Pathways by source for SMYD3 Gene

1 BioSystems pathway for SMYD3 Gene
2 KEGG pathways for SMYD3 Gene
1 Cell Signaling Technology pathway for SMYD3 Gene
1 GeneTex pathway for SMYD3 Gene

Gene Ontology (GO) - Biological Process for SMYD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0006334 nucleosome assembly IEA --
GO:0006469 negative regulation of protein kinase activity IEA --
GO:0014904 myotube cell development IEA --
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with SMYD3: view

No data available for SIGNOR curated interactions for SMYD3 Gene

Drugs & Compounds for SMYD3 Gene

(1) Drugs for SMYD3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
s-adenosylhomocysteine Experimental Pharma 0

(1) Additional Compounds for SMYD3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (3S)-5'-[(3-Amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
genes like me logo Genes that share compounds with SMYD3: view

Transcripts for SMYD3 Gene

mRNA/cDNA for SMYD3 Gene

13 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMYD3

Alternative Splicing Database (ASD) splice patterns (SP) for SMYD3 Gene

No ASD Table

Relevant External Links for SMYD3 Gene

GeneLoc Exon Structure for

Expression for SMYD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SMYD3 Gene

Protein differential expression in normal tissues from HIPED for SMYD3 Gene

This gene is overexpressed in Urine (19.7), Peripheral blood mononuclear cells (14.7), and Fetal Brain (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SMYD3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SMYD3

SOURCE GeneReport for Unigene cluster for SMYD3 Gene:


mRNA Expression by UniProt/SwissProt for SMYD3 Gene:

Tissue specificity: Expressed in skeletal muscles and testis. Overexpressed in a majority of colorectal and hepatocellular carcinomas.

Evidence on tissue expression from TISSUES for SMYD3 Gene

  • Intestine(4.5)
  • Nervous system(3.6)
  • Liver(2.2)
  • Skin(2.2)
  • Muscle(2.1)
  • Thyroid gland(2.1)
  • Kidney(2.1)
  • Heart(2.1)
  • Lymph node(2.1)
genes like me logo Genes that share expression patterns with SMYD3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SMYD3 Gene

Orthologs for SMYD3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SMYD3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SMYD3 29 30
  • 99.3 (n)
(Canis familiaris)
Mammalia -- 30
  • 92 (a)
-- 30
  • 92 (a)
SMYD3 29
  • 90.65 (n)
(Bos Taurus)
Mammalia SMYD3 29 30
  • 91.54 (n)
(Rattus norvegicus)
Mammalia Smyd3 29
  • 88.01 (n)
(Mus musculus)
Mammalia Smyd3 29 16 30
  • 87.31 (n)
(Monodelphis domestica)
Mammalia SMYD3 30
  • 69 (a)
(Ornithorhynchus anatinus)
Mammalia SMYD3 30
  • 50 (a)
(Gallus gallus)
Aves SMYD3 29 30
  • 69.25 (n)
(Anolis carolinensis)
Reptilia SMYD3 30
  • 57 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia smyd3 29
  • 63.63 (n)
(Danio rerio)
Actinopterygii smyd3 29 30
  • 55.26 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008954 29
  • 47.89 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Bzd 29 30
  • 44.81 (n)
(Caenorhabditis elegans)
Secernentea set-30 29 30
  • 45.23 (n)
set-14 30
  • 23 (a)
set-18 30
  • 21 (a)
set-10 30
  • 20 (a)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons SDG37 29
  • 43.08 (n)
(Oryza sativa)
Liliopsida Os03g0704200 29
  • 46.05 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes set6 29
  • 42.6 (n)
Species where no ortholog for SMYD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SMYD3 Gene

Gene Tree for SMYD3 (if available)
Gene Tree for SMYD3 (if available)
Evolutionary constrained regions (ECRs) for SMYD3: view image
Alliance of Genome Resources:
Additional Orthologs for SMYD3

Paralogs for SMYD3 Gene

Paralogs for SMYD3 Gene

(5) SIMAP similar genes for SMYD3 Gene using alignment to 8 proteins:

  • B0QZ88_HUMAN
  • B0QZ99_HUMAN
  • B3KN46_HUMAN
  • L0R6Q4_HUMAN
  • Q3B7A0_HUMAN
genes like me logo Genes that share paralogs with SMYD3: view

Variants for SMYD3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SMYD3 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
599314 Uncertain Significance: Cerebellar ataxia, nonprogressive, with mental retardation 245,867,698(-) ACATTTTGTTGGGAGA
rs11544849 Benign: not provided 246,355,058(-) G/A
NM_001167740.2(SMYD3):c.201C>T (p.Val67=)
rs12065652 Benign: not provided 245,915,522(-) C/T

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SMYD3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SMYD3 Gene

Variant ID Type Subtype PubMed ID
dgv109e199 CNV deletion 23128226
dgv110e199 CNV deletion 23128226
dgv114n67 CNV loss 20364138
dgv21e215 CNV deletion 23714750
dgv316n106 CNV deletion 24896259
dgv603n100 CNV loss 25217958
dgv83e214 CNV loss 21293372
dgv84e214 CNV loss 21293372
esv1000792 CNV deletion 20482838
esv1003030 CNV deletion 20482838
esv1003540 CNV deletion 20482838
esv1003896 CNV insertion 20482838
esv1006575 CNV loss 20482838
esv1008315 CNV loss 20482838
esv1037683 CNV insertion 17803354
esv1098199 CNV deletion 17803354
esv1098694 CNV deletion 17803354
esv1205920 CNV deletion 17803354
esv1309596 CNV deletion 17803354
esv1341719 CNV insertion 17803354
esv1341852 CNV insertion 17803354
esv1371383 CNV insertion 17803354
esv1372253 CNV deletion 17803354
esv1389764 CNV deletion 17803354
esv1396451 CNV deletion 17803354
esv1404916 CNV deletion 17803354
esv1406170 CNV deletion 17803354
esv1407105 CNV deletion 17803354
esv1477661 CNV deletion 17803354
esv1544511 CNV deletion 17803354
esv1565797 CNV deletion 17803354
esv1589863 CNV insertion 17803354
esv1623049 CNV insertion 17803354
esv1640065 CNV insertion 17803354
esv1643982 CNV deletion 17803354
esv1644154 CNV deletion 17803354
esv1739621 CNV insertion 17803354
esv1763627 CNV deletion 17803354
esv1782018 CNV insertion 17803354
esv2074719 CNV deletion 18987734
esv2100000 CNV deletion 18987734
esv2155069 CNV deletion 18987734
esv2193501 CNV deletion 18987734
esv22703 CNV gain+loss 19812545
esv23200 CNV gain+loss 19812545
esv2332007 CNV deletion 18987734
esv2390771 CNV deletion 18987734
esv2434687 CNV insertion 19546169
esv24517 CNV gain+loss 19812545
esv2472512 CNV insertion 19546169
esv2473608 CNV insertion 19546169
esv2499203 CNV deletion 19546169
esv2516817 CNV insertion 19546169
esv2521573 CNV insertion 19546169
esv25241 CNV gain+loss 19812545
esv2562033 CNV deletion 19546169
esv2569869 CNV deletion 19546169
esv2590335 CNV deletion 19546169
esv2605359 CNV insertion 19546169
esv2607117 CNV insertion 19546169
esv2658377 CNV deletion 23128226
esv2663295 CNV deletion 23128226
esv2664184 CNV deletion 23128226
esv2664400 CNV deletion 23128226
esv2671763 CNV deletion 23128226
esv2672276 CNV deletion 23128226
esv2675120 CNV deletion 23128226
esv2675765 CNV deletion 23128226
esv2727062 CNV deletion 23290073
esv2727073 CNV deletion 23290073
esv2727084 CNV deletion 23290073
esv2727095 CNV deletion 23290073
esv2727106 CNV deletion 23290073
esv2727117 CNV deletion 23290073
esv2727128 CNV deletion 23290073
esv2727140 CNV deletion 23290073
esv2727151 CNV deletion 23290073
esv2727162 CNV deletion 23290073
esv2727173 CNV deletion 23290073
esv2727184 CNV deletion 23290073
esv2727195 CNV deletion 23290073
esv2727206 CNV deletion 23290073
esv2727217 CNV deletion 23290073
esv2727228 CNV deletion 23290073
esv2727239 CNV deletion 23290073
esv2727252 CNV deletion 23290073
esv2727263 CNV deletion 23290073
esv2727274 CNV deletion 23290073
esv2727285 CNV deletion 23290073
esv2727296 CNV deletion 23290073
esv2727307 CNV deletion 23290073
esv2727318 CNV deletion 23290073
esv2727329 CNV deletion 23290073
esv2727340 CNV deletion 23290073
esv2727351 CNV deletion 23290073
esv2727363 CNV deletion 23290073
esv2727374 CNV deletion 23290073
esv2727385 CNV deletion 23290073
esv2727396 CNV deletion 23290073
esv2727407 CNV deletion 23290073
esv27324 CNV loss 19812545
esv2741327 CNV deletion 23290073
esv2759011 CNV loss 17122850
esv2759012 CNV gain 17122850
esv2762191 CNV gain 21179565
esv2762233 CNV loss 21179565
esv2762234 CNV loss 21179565
esv2764205 CNV loss 21179565
esv29109 CNV loss 19812545
esv29332 CNV loss 19812545
esv3007978 CNV deletion 24192839
esv3308763 CNV mobile element insertion 20981092
esv3327246 CNV insertion 20981092
esv33357 CNV loss 17666407
esv3351598 CNV duplication 20981092
esv3371948 CNV insertion 20981092
esv3379677 CNV insertion 20981092
esv3382106 CNV duplication 20981092
esv3402934 CNV insertion 20981092
esv3408373 CNV duplication 20981092
esv3413890 CNV insertion 20981092
esv3434322 CNV duplication 20981092
esv3446524 CNV duplication 20981092
esv3451849 CNV insertion 20981092
esv3452015 CNV duplication 20981092
esv3549966 CNV deletion 23714750
esv3550011 CNV deletion 23714750
esv3550099 CNV deletion 23714750
esv3550110 CNV deletion 23714750
esv3550122 CNV deletion 23714750
esv3550133 CNV deletion 23714750
esv3575839 CNV gain 25503493
esv3575850 CNV gain 25503493
esv3589447 CNV loss 21293372
esv3589451 CNV loss 21293372
esv3589453 CNV gain 21293372
esv3589458 CNV loss 21293372
esv3589459 CNV gain 21293372
esv3589460 CNV loss 21293372
esv3589463 CNV loss 21293372
esv3589464 CNV gain 21293372
esv3589466 CNV loss 21293372
esv3589468 CNV loss 21293372
esv3589469 CNV loss 21293372
esv3589472 CNV loss 21293372
esv3589474 CNV loss 21293372
esv3589475 CNV loss 21293372
esv3589477 CNV loss 21293372
esv3589479 CNV loss 21293372
esv3589482 CNV loss 21293372
esv3891326 CNV gain 25118596
esv3891337 CNV loss 25118596
esv3891348 CNV loss 25118596
esv3891359 CNV loss 25118596
esv4687 CNV loss 18987735
esv6772 CNV loss 19470904
esv989400 CNV deletion 20482838
esv990691 CNV deletion 20482838
nsv1001139 CNV loss 25217958
nsv1002445 CNV loss 25217958
nsv1003441 CNV gain 25217958
nsv1003962 CNV loss 25217958
nsv1004993 CNV loss 25217958
nsv1005825 CNV gain 25217958
nsv1006362 CNV loss 25217958
nsv1006481 CNV loss 25217958
nsv1007071 CNV gain 25217958
nsv1008113 CNV loss 25217958
nsv1010453 CNV gain 25217958
nsv1013805 CNV gain 25217958
nsv1014150 CNV gain 25217958
nsv1068245 CNV deletion 25765185
nsv1068246 CNV deletion 25765185
nsv1068247 CNV deletion 25765185
nsv1068248 CNV deletion 25765185
nsv1068249 CNV deletion 25765185
nsv1075412 CNV duplication 25765185
nsv1076358 CNV duplication 25765185
nsv1111244 CNV deletion 24896259
nsv1111248 CNV deletion 24896259
nsv1113236 CNV deletion 24896259
nsv1119777 CNV deletion 24896259
nsv1120206 CNV tandem duplication 24896259
nsv1124607 CNV duplication 24896259
nsv1125328 OTHER inversion 24896259
nsv1127099 CNV deletion 24896259
nsv1129351 OTHER inversion 24896259
nsv1135758 CNV deletion 24896259
nsv1135759 CNV deletion 24896259
nsv1140887 CNV deletion 24896259
nsv1140890 CNV deletion 24896259
nsv1142793 CNV deletion 24896259
nsv1142794 CNV deletion 24896259
nsv1142795 CNV deletion 24896259
nsv1144451 CNV deletion 24896259
nsv1144452 CNV deletion 24896259
nsv1147266 CNV insertion 26484159
nsv1149057 CNV deletion 26484159
nsv1151569 CNV deletion 26484159
nsv1152821 CNV deletion 26484159
nsv1153718 CNV insertion 26484159
nsv1154092 CNV duplication 26484159
nsv1160482 CNV deletion 26073780
nsv159602 CNV deletion 16902084
nsv160896 CNV deletion 16902084
nsv160904 CNV deletion 16902084
nsv428346 CNV gain 18775914
nsv441746 CNV loss 18776908
nsv468805 CNV loss 19166990
nsv468816 CNV loss 19166990
nsv477422 CNV novel sequence insertion 20440878
nsv478282 CNV novel sequence insertion 20440878
nsv506990 OTHER sequence alteration 20534489
nsv508069 OTHER sequence alteration 20534489
nsv511750 CNV loss 21212237
nsv514921 CNV gain 21397061
nsv515510 CNV loss 19592680
nsv522303 CNV loss 19592680
nsv5243 CNV deletion 18451855
nsv524498 CNV loss 19592680
nsv525447 CNV gain 19592680
nsv526429 CNV loss 19592680
nsv526469 CNV gain 19592680
nsv549520 CNV gain 21841781
nsv549521 CNV loss 21841781
nsv549522 CNV loss 21841781
nsv549523 CNV loss 21841781
nsv549524 CNV loss 21841781
nsv549525 CNV loss 21841781
nsv549526 CNV loss 21841781
nsv549527 CNV loss 21841781
nsv549528 CNV gain 21841781
nsv549529 CNV loss 21841781
nsv549530 CNV loss 21841781
nsv549531 CNV gain 21841781
nsv549532 CNV loss 21841781
nsv549533 CNV loss 21841781
nsv549534 CNV loss 21841781
nsv7191 OTHER inversion 18451855
nsv820560 CNV deletion 20802225
nsv820737 CNV deletion 20802225
nsv827731 CNV loss 20364138
nsv9014 CNV loss 18304495
nsv9025 CNV gain 18304495
nsv947476 CNV deletion 23825009
nsv954012 CNV duplication 24416366
nsv954015 CNV deletion 24416366
nsv956713 CNV deletion 24416366
nsv956715 CNV deletion 24416366
nsv956720 CNV deletion 24416366
nsv956755 CNV deletion 24416366
nsv956765 CNV deletion 24416366
nsv958789 CNV deletion 24416366
nsv997542 CNV gain 25217958
nsv998007 CNV loss 25217958
nsv998644 CNV loss 25217958

Variation tolerance for SMYD3 Gene

Residual Variation Intolerance Score: 25.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.82; 34.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SMYD3 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMYD3 Gene

Disorders for SMYD3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SMYD3 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
cerebellar ataxia, nonprogressive, with mental retardation
  • canpmr
renal wilms' tumor
  • nonanaplastic renal wilm's tumor
hepatocellular carcinoma
  • hcc
- elite association - COSMIC cancer census association via MalaCards
Search SMYD3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SMYD3

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SMYD3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SMYD3 Gene

Publications for SMYD3 Gene

  1. SMYD3 encodes a histone methyltransferase involved in the proliferation of cancer cells. (PMID: 15235609) Hamamoto R … Nakamura Y (Nature cell biology 2004) 3 4 22
  2. C-terminal domain of SMYD3 serves as a unique HSP90-regulated motif in oncogenesis. (PMID: 25738358) Brown MA … Tucker H (Oncotarget 2015) 3 4
  3. Smyd3 regulates cancer cell phenotypes and catalyzes histone H4 lysine 5 methylation. (PMID: 22419068) Van Aller GS … Kruger RG (Epigenetics 2012) 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  5. Association of the variable number of tandem repeats polymorphism in the promoter region of the SMYD3 gene with risk of esophageal squamous cell carcinoma in relation to tobacco smoking. (PMID: 18294291) Wang H … He F (Cancer science 2008) 3 40

Products for SMYD3 Gene

Sources for SMYD3 Gene