Gene Gene information from NCBI Gene database.
Entrez ID 56950
Gene name SET and MYND domain containing 2
Gene symbol SMYD2
Synonyms (NCBI Gene)
HSKM-BKMT3CZMYND14
Chromosome 1
Chromosome location 1q32.3
Summary SET domain-containing proteins, such as SMYD2, catalyze lysine methylation (Brown et al., 2006 [PubMed 16805913]).[supplied by OMIM, Nov 2008]
miRNA miRNA information provided by mirtarbase database.
78
miRTarBase ID miRNA Experiments Reference
MIRT020273 hsa-miR-130b-3p Sequencing 20371350
MIRT029735 hsa-miR-26b-5p Microarray 19088304
MIRT031254 hsa-miR-19b-3p Sequencing 20371350
MIRT449759 hsa-miR-8087 PAR-CLIP 22100165
MIRT449758 hsa-miR-5588-3p PAR-CLIP 22100165
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 17108971
GO:0000993 Function RNA polymerase II complex binding IEA
GO:0000993 Function RNA polymerase II complex binding ISS
GO:0002039 Function P53 binding IPI 17108971
GO:0005515 Function Protein binding IPI 17805299, 20870719, 21782458, 24880080, 25609649, 27173435, 32296183, 32707033
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610663 20982 ENSG00000143499
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NRG4
Protein name N-lysine methyltransferase SMYD2 (EC 2.1.1.-) (HSKM-B) (Histone methyltransferase SMYD2) (EC 2.1.1.354) (Lysine N-methyltransferase 3C) (SET and MYND domain-containing protein 2)
Protein function Protein-lysine N-methyltransferase that methylates both histones and non-histone proteins, including p53/TP53 and RB1. Specifically trimethylates histone H3 'Lys-4' (H3K4me3) in vivo. The activity requires interaction with HSP90alpha. Shows even
PDB 3RIB , 3S7B , 3S7D , 3S7F , 3S7J , 3TG4 , 3TG5 , 4O6F , 4WUY , 4YND , 5ARF , 5ARG , 5KJK , 5KJL , 5KJM , 5KJN , 5V3H , 5WCG , 6CBX , 6CBY , 6MON , 6N3G , 9CKC , 9CKF , 9CKG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00856 SET 18 241 SET domain Family
PF01753 zf-MYND 52 90 MYND finger Domain
Sequence
MRAEGLGGLERFCSPGKGRGLRALQPFQVGDLLFSCPAYAYVLTVNERGNHCEYCFTRKE
GLSKCGRCKQAFYCNVECQKEDWPMHKLEC
SPMVVFGENWNPSETVRLTARILAKQKIHP
ERTPSEKLLAVKEFESHLDKLDNEKKDLIQSDIAALHHFYSKHLGFPDNDSLVVLFAQVN
CNGFTIEDEELSHLGSAIFPDVALMNHSCCPNVIVTYKGTLAEVRAVQEIKPGEEVFTSY
I
DLLYPTEDRNDRLRDSYFFTCECQECTTKDKDKAKVEIRKLSDPPKAEAIRDMVRYARN
VIEEFRRAKHYKSPSELLEICELSQEKMSSVFEDSNVYMLHMMYQAMGVCLYMQDWEGAL
QYGQKIIKPYSKHYPLYSLNVASMWLKLGRLYMGLEHKAAGEKALKKAIAIMEVAHGKDH
PYISEIKQEIESH
Sequence length 433
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Lysine degradation
Metabolic pathways
  PKMTs methylate histone lysines
Regulation of TP53 Activity through Methylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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)
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
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Achalasia Addisonianism Alacrimia syndrome Associate 29507647
★☆☆☆☆
Found in Text Mining only
Adenoma Oxyphilic Associate 26488939
★☆☆☆☆
Found in Text Mining only
Aneurysm Associate 29507647
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Associate 29507647
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 21103787, 25825497, 25925379
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Stimulate 31693890
★☆☆☆☆
Found in Text Mining only
Calcinosis Cutis Associate 37121971
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 21738746, 25825497, 30207284
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 36411681, 36611819
★☆☆☆☆
Found in Text Mining only
Carcinoma Non Small Cell Lung Associate 28370702, 30207284
★☆☆☆☆
Found in Text Mining only