SMYD3 (SET and MYND domain containing 3)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64754
Gene name Gene Name - the full gene name approved by the HGNC.
SET and MYND domain containing 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SMYD3
Synonyms (NCBI Gene) Gene synonyms aliases
KMT3E, ZMYND1, ZNFN3A1, bA74P14.1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q44
Summary Summary of gene provided in NCBI Entrez 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 2
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
miRTarBase ID miRNA Experiments Reference
MIRT004725 hsa-miR-124-3p Luciferase reporter assay, qRT-PCR, Western blot 19843643
MIRT004725 hsa-miR-124-3p Luciferase reporter assay, qRT-PCR, Western blot 19843643
MIRT004725 hsa-miR-124-3p Luciferase reporter assay 22819820
MIRT004725 hsa-miR-124-3p Luciferase reporter assay 22819820
MIRT439578 hsa-miR-218-5p HITS-CLIP 23212916
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(28)
GO ID Ontology Definition Evidence Reference
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000993 Function RNA polymerase II complex binding IEA
GO:0001162 Function RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding IEA
GO:0005515 Function Protein binding IPI 25738358, 27066749, 32296183
GO:0005634 Component Nucleus IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608783 15513 ENSG00000185420
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9H7B4
Protein name Histone-lysine N-methyltransferase SMYD3 (EC 2.1.1.354) (SET and MYND domain-containing protein 3) (Zinc finger MYND domain-containing protein 1)
Protein 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 r
PDB 3MEK , 3OXF , 3OXG , 3OXL , 3PDN , 3QWP , 3RU0 , 5CCL , 5CCM , 5EX0 , 5EX3 , 5HI7 , 5HQ8 , 5V37 , 5XXD , 5XXG , 5XXJ , 5YJO , 6IJL , 6O9O , 6P6G , 6P6K , 6P7Z , 6PAF , 6YUH , 6ZRB , 7BJ1 , 7O2A , 7O2B , 7O2C , 7QLB , 7QNR , 7QNU , 8OWO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00856 SET 15 → 240 SET domain Family
PF01753 zf-MYND 47 → 87 MYND finger Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in skeletal muscles and testis. Overexpressed in a majority of colorectal and hepatocellular carcinomas. {ECO:0000269|PubMed:15235609}.
Sequence 
MEPLKVEKFATAKRGNGLRAVTPLRPGELLFRSDPLAYTVCKGSRGVVCDRCLLGKEKLM
RCSQCRVAKYCSAKCQKKAWPDHKRECKCLKSCKPRYPPDSVRLLGRVVFKLMDGAPSES
EKLYSFYDLESNINKLTEDKKEGLRQLVMTFQHFMREEIQDASQLPPAFDLFEAFAKVIC
NSFTICNAEMQEVGVGLYPSISLLNHSCDPNCSIVFNGPHLLLRAVRDIEVGEELTICYL
DMLMTSEERRKQLRDQYCFECDCFRCQTQDKDADMLTGDEQVWKEVQESLKKIEELKAHW
KWEQVLAMCQAIISSNSERLPDINIYQLKVLDCAMDACINLGLLEEALFYGTRTMEPYRI
FFPGSHPVRGVQVMKVGKLQLHQGMFPQAMKNLRLAFDIMRVTHGREHSLIEDLILLLEE
CDANIRAS
Sequence length 428
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Lysine degradation
Metabolic pathways 		  PKMTs methylate histone lysines
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Migraine with Aura Migraine with aura N/A N/A GWAS
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Show/Hide Text Mining Associations (47)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Asthma Associate 37466093
Breast Neoplasms Associate 16441421, 19509295, 20039369, 28639750, 29089464, 33333978, 35092367, 36077333, 37998381
Carcinogenesis Associate 18294291, 20039369, 28639750, 32071406, 34301921, 37237385
Carcinogenesis Stimulate 36575438
Carcinoma Hepatocellular Stimulate 16441421, 32071406
Carcinoma Hepatocellular Associate 17963297, 29187705, 34301921, 34414947, 36575438, 37978846
Carcinoma Non Small Cell Lung Stimulate 32705243
Carcinoma Non Small Cell Lung Associate 36222132
Cholangiocarcinoma Associate 21450690, 22819820
Colorectal Neoplasms Stimulate 16441421