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  3. SETD2

SETD2 (SET domain containing 2)

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The Function of SETD2

Histone methyltransferase that specifically trimethylates 'Lys-36' of histone H3 (H3K36me3) using dimethylated 'Lys-36' (H3K36me2) as substrate. Represents the main enzyme generating H3K36me3, a specific tag for epigenetic transcriptional activation. Plays a role in chromatin structure modulation during elongation by coordinating recruitment of the FACT complex and by interacting with hyperphosphorylated POLR2A. Acts as a key regulator of DNA mismatch repair in G1 and early S phase by generating H3K36me3, a mark required to recruit MSH6 subunit of the MutS alpha complex: early recruitment of the MutS alpha complex to chromatin to be replicated allows a quick identification of mismatch DNA to initiate the mismatch repair reaction. H3K36me3 also plays an essential role in the maintenance of a heterochromatic state, by recruiting DNA methyltransferase DNMT3A. H3K36me3 is also enhanced in intron-containing genes, suggesting that SETD2 recruitment is enhanced by splicing and that splicing is coupled to recruitment of elongating RNA polymerase. Required during angiogenesis. Recruited to the promoters of adenovirus 12 E1A gene in case of infection, possibly leading to regulate its expression.

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Protein names

Recommended name:

Histone-lysine N-methyltransferase SETD2

Short name:

HIF-1

Alternative name(s):

Huntingtin yeast partner B
Huntingtin-interacting protein 1
HIP-1
Huntingtin-interacting protein B
Lysine N-methyltransferase 3A
SET domain-containing protein 2
hSET2
p231HBP

SETD2 SNPs

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  1. RS2290547 (SETD2) ??

Top Gene-Substance Interactions

SETD2 Interacts with These Diseases

Disease Score

Substances That Increase SETD2

Substances Interaction Organism Category

Substances That Decrease SETD2

Substances Interaction Organism Category

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • NF-kappaB
  • p53
  • AP-1
  • Arnt
  • RORalpha2
  • c-Jun
  • deltaCREB
  • STAT3
  • NF-kappaB1
  • Sp1

Tissue specificity:

Ubiquitously expressed.

Gene Pathways:

  • Lysine degradation

Enzyme Regulation:

Specifically inhibited by sinefungin derivatives. N-propyl sinefungin (Pr-SNF) interacts preferentially with SETD2.

Molecular Function:

  • Histone-Lysine N-Methyltransferase Activity
  • Histone Methyltransferase Activity (H3-K36 Specific)

Biological Processes:

  • Angiogenesis
  • Cell Migration Involved In Vasculogenesis
  • Coronary Vasculature Morphogenesis
  • Embryonic Cranial Skeleton Morphogenesis
  • Embryonic Placenta Morphogenesis
  • Forebrain Development
  • Histone H3-K36 Dimethylation
  • Histone H3-K36 Trimethylation
  • Mesoderm Morphogenesis
  • Mismatch Repair
  • Morphogenesis Of A Branching Structure
  • Neural Tube Closure
  • Nucleosome Organization
  • Pericardium Development
  • Regulation Of Mrna Export From Nucleus
  • Regulation Of Transcription, Dna-Templated
  • Stem Cell Development
  • Transcription Elongation From Rna Polymerase Ii Promoter
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| AS27_10449| AS28_11044| D623_10006865| fb97h09| H920_05424| HBP231| HIF-1| HIP-1| histone-lysine N-methyltransferase SETD2| histone-lysine N-methyltransferase SETD2-like protein| HSPC069| huntingtin interacting protein 1| huntingtin interacting protein B| huntingtin-interacting protein B| huntingtin yeast partner B| HYPB| Kif9| kinesin family member 9| KMT3A| LLS| lysine N-methyltransferase 3A| M91_13698| N300_13645| N301_06847| N303_09764| N305_08928| N310_03042| N311_07051| N312_13077| N320_00742| N321_03386| N322_13445| N324_11919| N330_11848| N332_14443| N334_10541| N335_04765| N336_03657| N339_09192| N340_04569| p231HBP| PAL_GLEAN10007849| PANDA_000629| probable histone-lysine N-methyltransferase CG1716| SET2| SET domain-containing protein 2| UY3_13365| Y1Q_020913| Z169_12171| setd2

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