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    SUV39H2 suppressor of variegation 3-9 homolog 2 [ Homo sapiens (human) ]

    Gene ID: 79723, updated on 17-Jun-2019

    Summary

    Official Symbol
    SUV39H2provided by HGNC
    Official Full Name
    suppressor of variegation 3-9 homolog 2provided by HGNC
    Primary source
    HGNC:HGNC:17287
    See related
    Ensembl:ENSG00000152455 MIM:606503
    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
    KMT1B
    Expression
    Broad expression in testis (RPKM 10.3), lymph node (RPKM 2.1) and 23 other tissues See more
    Orthologs

    Genomic context

    See SUV39H2 in Genome Data Viewer
    Location:
    10p13
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (14878783..14904315)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (14920782..14946314)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene cerebral dopamine neurotrophic factor Neighboring gene zinc finger and SCAN domain containing 29 pseudogene Neighboring gene heat shock protein family A (Hsp70) member 14 Neighboring gene DNA cross-link repair 1C Neighboring gene meiosis/spermiogenesis associated 1 Neighboring gene olfactory receptor family 7 subfamily E member 110 pseudogene Neighboring gene olfactory receptor family 7 subfamily E member 26 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • 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...
    • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
      Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
    • 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...
    • Lysine degradation, organism-specific biosystem (from KEGG)
      Lysine degradation, organism-specific biosystem
      Lysine degradation
    • Lysine degradation, conserved biosystem (from KEGG)
      Lysine degradation, conserved biosystem
      Lysine degradation
    • 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),...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ23414

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    S-adenosyl-L-methionine binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone methyltransferase activity (H3-K9 specific) IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    histone methyltransferase activity (H3-K9 specific) IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription regulatory region sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromatin assembly or disassembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chromatin remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone H3-K9 dimethylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    histone H3-K9 trimethylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    histone lysine methylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of circadian rhythm 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 
    negative regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    rhythmic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromosome, centromeric region IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    histone-lysine N-methyltransferase SUV39H2
    Names
    H3-K9-HMTase 2
    histone H3-K9 methyltransferase 2
    lysine N-methyltransferase 1B
    su(var)3-9 homolog 2
    NP_001180353.1
    NP_001180354.1
    NP_001180355.1
    NP_001180356.1
    NP_078946.1
    XP_006717566.1
    XP_011517964.1
    XP_016872126.1

    NCBI Reference Sequences (RefSeq)

    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_001193424.2NP_001180353.1  histone-lysine N-methyltransferase SUV39H2 isoform 1

      See identical proteins and their annotated locations for NP_001180353.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript, and encodes the longest isoform (1).
      Source sequence(s)
      BC007754, DB040298
      Consensus CDS
      CCDS53494.1
      UniProtKB/Swiss-Prot
      Q9H5I1
      Related
      ENSP00000346997.6, ENST00000354919.10
      Conserved Domains (3) summary
      smart00317
      Location:250373
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      pfam00385
      Location:4893
      Chromo; Chromo (CHRromatin Organization MOdifier) domain
      pfam05033
      Location:154242
      Pre-SET; Pre-SET motif
    2. NM_001193425.1NP_001180354.1  histone-lysine N-methyltransferase SUV39H2 isoform 2

      See identical proteins and their annotated locations for NP_001180354.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon compared to variant 1. This results in translation initiation from an in-frame, downstream AUG, and a shorter isoform (2) compared to isoform 1. Variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AC069544, AL360083, BC007754, BU928392
      Consensus CDS
      CCDS7104.1
      UniProtKB/Swiss-Prot
      Q9H5I1
      Conserved Domains (3) summary
      smart00317
      Location:190313
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      pfam00385
      Location:233
      Chromo; Chromo (CHRromatin Organisation MOdifier) domain
      pfam05033
      Location:87182
      Pre-SET; Pre-SET motif
    3. NM_001193426.1NP_001180355.1  histone-lysine N-methyltransferase SUV39H2 isoform 3

      See identical proteins and their annotated locations for NP_001180355.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate donor splice site at an internal coding exon compared to variant 1, maintaining the reading frame, and resulting in a shorter isoform (3) missing an internal protein segment compared compared to isoform 1.
      Source sequence(s)
      BC007754, BC029360, DB040298
      Consensus CDS
      CCDS53493.1
      UniProtKB/Swiss-Prot
      Q9H5I1
      Related
      ENSP00000367576.3, ENST00000378325.7
      Conserved Domains (2) summary
      smart00317
      Location:100193
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      pfam00385
      Location:4793
      Chromo; Chromo (CHRromatin Organisation MOdifier) domain
    4. NM_001193427.1NP_001180356.1  histone-lysine N-methyltransferase SUV39H2 isoform 4

      See identical proteins and their annotated locations for NP_001180356.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains an alternate 5' terminal exon, and uses an alternate donor splice site at an internal coding exon compared to variant 1. This results in translation initiation from an in-frame, downstream AUG, and a shorter isoform (4) missing an internal protein segment compared compared to isoform 1.
      Source sequence(s)
      BC007754, BU928392
      UniProtKB/Swiss-Prot
      Q9H5I1
      Related
      ENSP00000388968.1, ENST00000433779.5
      Conserved Domains (2) summary
      smart00317
      Location:40133
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      pfam00385
      Location:233
      Chromo; Chromo (CHRromatin Organisation MOdifier) domain
    5. NM_024670.3NP_078946.1  histone-lysine N-methyltransferase SUV39H2 isoform 2

      See identical proteins and their annotated locations for NP_078946.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon, and is missing the subsequent exon compared to variant 1. This results in translation initiation from an in-frame, downstream AUG, and a shorter isoform (2) compared to isoform 1. Variants 2 and 3 encode the same isoform.
      Source sequence(s)
      BC007754
      Consensus CDS
      CCDS7104.1
      UniProtKB/Swiss-Prot
      Q9H5I1
      Related
      ENSP00000319208.5, ENST00000313519.9
      Conserved Domains (3) summary
      smart00317
      Location:190313
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      pfam00385
      Location:233
      Chromo; Chromo (CHRromatin Organisation MOdifier) domain
      pfam05033
      Location:87182
      Pre-SET; Pre-SET motif

    RNA

    1. NR_034181.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) is missing an internal exon compared to variant 1. It is represented as non-coding because the use of the 5'-most supported translational start codon as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK225369, BC007754, DB040298
      Related
      ENST00000378331.5

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      14878783..14904315
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016637.1XP_016872126.1  histone-lysine N-methyltransferase SUV39H2 isoform X1

      UniProtKB/Swiss-Prot
      Q9H5I1
      Conserved Domains (3) summary
      smart00317
      Location:190313
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      pfam00385
      Location:233
      Chromo; Chromo (CHRromatin Organisation MOdifier) domain
      pfam05033
      Location:87182
      Pre-SET; Pre-SET motif
    2. XM_011519662.2XP_011517964.1  histone-lysine N-methyltransferase SUV39H2 isoform X1

      See identical proteins and their annotated locations for XP_011517964.1

      UniProtKB/Swiss-Prot
      Q9H5I1
      Conserved Domains (3) summary
      smart00317
      Location:190313
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      pfam00385
      Location:233
      Chromo; Chromo (CHRromatin Organisation MOdifier) domain
      pfam05033
      Location:87182
      Pre-SET; Pre-SET motif
    3. XM_006717503.3XP_006717566.1  histone-lysine N-methyltransferase SUV39H2 isoform X1

      See identical proteins and their annotated locations for XP_006717566.1

      UniProtKB/Swiss-Prot
      Q9H5I1
      Conserved Domains (3) summary
      smart00317
      Location:190313
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      pfam00385
      Location:233
      Chromo; Chromo (CHRromatin Organisation MOdifier) domain
      pfam05033
      Location:87182
      Pre-SET; Pre-SET motif
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