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    Setdb2 SET domain, bifurcated 2 [ Mus musculus (house mouse) ]

    Gene ID: 239122, updated on 9-Dec-2024

    Summary

    Official Symbol
    Setdb2provided by MGI
    Official Full Name
    SET domain, bifurcated 2provided by MGI
    Primary source
    MGI:MGI:2685139
    See related
    Ensembl:ENSMUSG00000071350 AllianceGenome:MGI:2685139
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Clld8; Gm293; KMT1F
    Summary
    Predicted to enable histone H3K9 methyltransferase activity. Predicted to be involved in several processes, including heterochromatin organization; left/right pattern formation; and regulation of gene expression. Predicted to be located in cytosol and nucleoplasm. Predicted to be active in nucleus. Is expressed in several structures, including gonad; nervous system; and nose. Orthologous to human SETDB2 (SET domain bifurcated histone lysine methyltransferase 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in liver E14 (RPKM 2.7), liver E18 (RPKM 2.2) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Setdb2 in Genome Data Viewer
    Location:
    14 C3; 14 31.48 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (59639458..59678329, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (59402009..59440880, complement)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_36838 Neighboring gene STARR-seq mESC enhancer starr_36839 Neighboring gene PHD finger protein 11D Neighboring gene predicted gene, 45935 Neighboring gene PHD finger protein 11C Neighboring gene STARR-positive B cell enhancer ABC_E4112 Neighboring gene calcium binding protein 39-like Neighboring gene cytidine and dCMP deaminase domain containing 1 Neighboring gene aldo-keto reductase family 1, member B8 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (3)  1 citation

    General gene information

    Markers

    Readthrough Gm45935

    Readthrough gene: Gm45935, Included gene: Phf11d, Included gene: Phf11c

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3K9 methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables histone H3K9 methyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables histone H3K9 methyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables histone H3K9 monomethyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromosome segregation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in chromosome segregation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heart looping ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heterochromatin organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in left/right axis specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitotic cell cycle ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in mitotic cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of gene expression IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    histone-lysine N-methyltransferase SETDB2
    NP_001307649.1
    NP_001307650.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001320720.1NP_001307649.1  histone-lysine N-methyltransferase SETDB2 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC114007, AI428348, BC172021
      Consensus CDS
      CCDS84142.1
      UniProtKB/TrEMBL
      B2RXP3, B4XVN8, B4XVN9
      Related
      ENSMUSP00000124696.2, ENSMUST00000161459.8
      Conserved Domains (3) summary
      smart00317
      Location:612674
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd01395
      Location:152212
      HMT_MBD; Methyl-CpG binding domains (MBD) present in putative histone methyltransferases (HMT) such as CLLD8 and SETDB1 proteins; CLLD8 contains a MBD, a PreSET and a bifurcated SET domain, suggesting that CLLD8 might be associated with methylation-mediated ...
      pfam05033
      Location:234346
      Pre-SET; Pre-SET motif
    2. NM_001320721.1NP_001307650.1  histone-lysine N-methyltransferase SETDB2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC114007, AI428348, BC172021
      UniProtKB/TrEMBL
      B4XVP0
      Conserved Domains (3) summary
      smart00317
      Location:590652
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd01395
      Location:130190
      HMT_MBD; Methyl-CpG binding domains (MBD) present in putative histone methyltransferases (HMT) such as CLLD8 and SETDB1 proteins; CLLD8 contains a MBD, a PreSET and a bifurcated SET domain, suggesting that CLLD8 might be associated with methylation-mediated ...
      pfam05033
      Location:212324
      Pre-SET; Pre-SET motif

    RNA

    1. NR_135463.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate internal splice site compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC114007, AI428348, BC172021

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000080.7 Reference GRCm39 C57BL/6J

      Range
      59639458..59678329 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001081024.1: Suppressed sequence

      Description
      NM_001081024.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.