SMYD3 (SET and MYND domain containing 3)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 64754
Gene name SET and MYND domain containing 3
Gene symbol SMYD3
Synonyms (NCBI Gene)
KMT3EZMYND1ZNFN3A1bA74P14.1
Chromosome 1
Chromosome location 1q44
Summary 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.
6
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 assayqRT-PCRWestern blot 19843643
MIRT004725 hsa-miR-124-3p Luciferase reporter assayqRT-PCRWestern 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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608783 15513 ENSG00000185420
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (12)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (68)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31280673
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 37466093 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 26676636
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 16155568, 16441421, 19509295, 20039369, 27569210, 29089464, 30544196, 30930987, 31836525
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 16441421, 19509295, 20039369, 28639750, 29089464, 33333978, 35092367, 36077333, 37998381 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 18294291, 20039369, 28639750, 32071406, 34301921, 37237385 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 36575438 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 18452649, 20725992, 24847881
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 16441421, 32071406 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 17963297, 29187705, 34301921, 34414947, 36575438, 37978846 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only