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    SMYD2 SET and MYND domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 56950, updated on 22-May-2018
    Official Symbol
    SMYD2provided by HGNC
    Official Full Name
    SET and MYND domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:20982
    See related
    Ensembl:ENSG00000143499 MIM:610663; Vega:OTTHUMG00000037066
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KMT3C; HSKM-B; ZMYND14
    Summary
    SET domain-containing proteins, such as SMYD2, catalyze lysine methylation (Brown et al., 2006 [PubMed 16805913]).[supplied by OMIM, Nov 2008]
    Expression
    Broad expression in heart (RPKM 86.3), testis (RPKM 19.8) and 22 other tissues See more
    Orthologs
    See SMYD2 in Genome Data Viewer
    Location:
    1q32.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (214281222..214337136)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (214454565..214510477)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene PROX1 antisense RNA 1 Neighboring gene prospero homeobox 1 Neighboring gene uncharacterized LOC105372911 Neighboring gene VISTA enhancer hs2357 Neighboring gene uncharacterized LOC107985263 Neighboring gene protein tyrosine phosphatase, non-receptor type 14 Neighboring gene adaptor related protein complex 3 sigma 1 subunit pseudogene Neighboring gene keratin 18 pseudogene 12

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    NHGRI GWA Catalog
    • Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
      Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
    • Chromatin organization, organism-specific biosystem (from REACTOME)
      Chromatin organization, organism-specific biosystemChromatin organization refers to the composition and conformation of complexes between DNA, protein and RNA. It is determined by processes that result in the specification, formation or maintenance o...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • Histone Modifications, organism-specific biosystem (from WikiPathways)
      Histone Modifications, organism-specific biosystemHistones can undergo many post-translational modifications that are involved in transcription regulation. This pathway provides an overview of various modifications for histones H3 and H4 and the en...
    • PKMTs methylate histone lysines, organism-specific biosystem (from REACTOME)
      PKMTs methylate histone lysines, organism-specific biosystemLysine methyltransferases (KMTs) and arginine methyltransferases (RMTs) have a common mechanism of catalysis. Both families transfer a methyl group from a common donor, S-adenosyl-L-methionine (SAM),...
    • Regulation of TP53 Activity, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Activity, organism-specific biosystemProtein stability and transcriptional activity of TP53 (p53) tumor suppressor are regulated by post-translational modifications that include ubiquitination, phosphorylation, acetylation, methylation,...
    • Regulation of TP53 Activity through Methylation, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Activity through Methylation, organism-specific biosystemTP53 (p53) undergoes methylation on several lysine and arginine residues, which modulates its transcriptional activity.PRMT5, recruited to TP53 as part of the ATM-activated complex that includes TTC5...
    • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
      Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
    • p53 pathway, organism-specific biosystem (from Pathway Interaction Database)
      p53 pathway, organism-specific biosystem
      p53 pathway
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC119305

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA polymerase II core binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    histone methyltransferase activity (H3-K36 specific) ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    histone-lysine N-methyltransferase activity TAS
    Traceable Author Statement
    more info
     
    lysine N-methyltransferase activity TAS
    Traceable Author Statement
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    p53 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein-lysine N-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    heart development IEA
    Inferred from Electronic Annotation
    more info
     
    histone H3-K36 methylation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peptidyl-lysine dimethylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    peptidyl-lysine monomethylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of DNA damage response, signal transduction by p53 class mediator IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of signal transduction by p53 class mediator TAS
    Traceable Author Statement
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    N-lysine methyltransferase SMYD2
    Names
    SET and MYND domain-containing protein 2
    histone methyltransferase SMYD2
    lysine N-methyltransferase 3C
    zinc finger, MYND domain containing 14
    NP_064582.2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_020197.2NP_064582.2  N-lysine methyltransferase SMYD2

      See identical proteins and their annotated locations for NP_064582.2

      Status: VALIDATED

      Source sequence(s)
      AW474469, BC098276, BG723585
      Consensus CDS
      CCDS31022.1
      UniProtKB/Swiss-Prot
      Q9NRG4
      Related
      ENSP00000355924.5, OTTHUMP00000035134, ENST00000366957.9, OTTHUMT00000089998
      Conserved Domains (3) summary
      pfam00856
      Location:204240
      SET; SET domain
      pfam01753
      Location:5290
      zf-MYND; MYND finger
      pfam13424
      Location:338413
      TPR_12; Tetratricopeptide repeat

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      214281222..214337136
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_426790.4 RNA Sequence

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