| Tbio | Histone-lysine N-methyltransferase SETDB2 |
Histone methyltransferase involved in left-right axis specification in early development and mitosis. Specifically trimethylates 'Lys-9' of histone H3 (H3K9me3). H3K9me3 is a specific tag for epigenetic transcriptional repression that recruits HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Contributes to H3K9me3 in both the interspersed repetitive elements and centromere-associated repeats. Plays a role in chromosome condensation and segregation during mitosis.
This gene encodes a member of a family of proteins that contain a methyl-CpG-binding domain (MBD) and a SET domain and function as histone methyltransferases. This protein is recruited to heterochromatin and plays a role in the regulation of chromosome segregation. This region is commonly deleted in chronic lymphocytic leukemia. Naturally-occuring readthrough transcription occurs from this gene to the downstream PHF11 (PHD finger protein 11) gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
This gene encodes a member of a family of proteins that contain a methyl-CpG-binding domain (MBD) and a SET domain and function as histone methyltransferases. This protein is recruited to heterochromatin and plays a role in the regulation of chromosome segregation. This region is commonly deleted in chronic lymphocytic leukemia. Naturally-occuring readthrough transcription occurs from this gene to the downstream PHF11 (PHD finger protein 11) gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Comments
Property Summary
| NCBI Gene PubMed Count | 12 |
| Grant Count | 6 |
| Funding | $509,081 |
| PubMed Score | 10.84 |
| PubTator Score | 5.34 |
| Disease | log2 FC | p |
|---|---|---|
| gastric cancer | -1.600 | 0.002 |
| hepatocellular carcinoma | -1.400 | 0.000 |
| osteosarcoma | -3.330 | 0.000 |
| medulloblastoma, large-cell | -1.100 | 0.000 |
| subependymal giant cell astrocytoma | 1.313 | 0.033 |
| ovarian cancer | -1.500 | 0.000 |
| pituitary cancer | 1.300 | 0.000 |
| PMID | Text |
|---|---|
| 26709698 | these findings identify Setdb2 as a novel regulator of the immune system in acute respiratory viral infection. |
| 26378653 | Results indicate that the IgE-associated AT/G polymorphism (rs386770867) regulates transcription of SETDB2. |
| 20404330 | Results provide evidence that CLLD8/KMT1F is recruited to heterochromatin regions and contributes in vivo to the deposition of trimethyl marks in concert with SUV39H1/KMT1A.SUV39H1/KMT1A. |
| 20085599 | Observational study of gene-disease association. (HuGE Navigator) |
| 18498648 | HIV-1 Tat associates with SETDB2 in vitro |
MGEKNGDAKTFWMELEDDGKVDFIFEQVQNVLQSLKQKIKDGSATNKEYIQAMILVNEATIINSSTSIKG 1 - 70 ASQKEVNAQSSDPMPVTQKEQENKSNAFPSTSCENSFPEDCTFLTTENKEILSLEDKVVDFREKDSSSNL 71 - 140 SYQSHDCSGACLMKMPLNLKGENPLQLPIKCHFQRRHAKTNSHSSALHVSYKTPCGRSLRNVEEVFRYLL 141 - 210 ETECNFLFTDNFSFNTYVQLARNYPKQKEVVSDVDISNGVESVPISFCNEIDSRKLPQFKYRKTVWPRAY 211 - 280 NLTNFSSMFTDSCDCSEGCIDITKCACLQLTARNAKTSPLSSDKITTGYKYKRLQRQIPTGIYECSLLCK 281 - 350 CNRQLCQNRVVQHGPQVRLQVFKTEQKGWGVRCLDDIDRGTFVCIYSGRLLSRANTEKSYGIDENGRDEN 351 - 420 TMKNIFSKKRKLEVACSDCEVEVLPLGLETHPRTAKTEKCPPKFSNNPKELTVETKYDNISRIQYHSVIR 421 - 490 DPESKTAIFQHNGKKMEFVSSESVTPEDNDGFKPPREHLNSKTKGAQKDSSSNHVDEFEDNLLIESDVID 491 - 560 ITKYREETPPRSRCNQATTLDNQNIKKAIEVQIQKPQEGRSTACQRQQVFCDEELLSETKNTSSDSLTKF 561 - 630 NKGNVFLLDATKEGNVGRFLNHSCCPNLLVQNVFVETHNRNFPLVAFFTNRYVKARTELTWDYGYEAGTV 631 - 700 PEKEIFCQCGVNKCRKKIL 701 - 719 //
| PMID | Year | Title |
|---|---|---|
| 26709698 | 2015 | Type I Interferon Induced Epigenetic Regulation of Macrophages Suppresses Innate and Adaptive Immunity in Acute Respiratory Viral Infection. |
| 26572639 | 2016 | Left-Right Axis Differentiation and Functional Lateralization: a Haplotype in the Methyltransferase Encoding Gene SETDB2 Might Mediate Handedness in Healthy Adults. |
| 26378653 | 2015 | A functional AT/G polymorphism in the 5'-untranslated region of SETDB2 in the IgE locus on human chromosome 13q14. |
| 25416956 | 2014 | A proteome-scale map of the human interactome network. |
| 20404330 | 2010 | CLLD8/KMT1F is a lysine methyltransferase that is important for chromosome segregation. |
| 20085599 | 2009 | A multi-centre study of candidate genes for wheeze and allergy: the International Study of Asthma and Allergies in Childhood Phase 2. |
| 17974005 | 2007 | The full-ORF clone resource of the German cDNA Consortium. |
| 16344560 | 2006 | Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |
| 15489334 | 2004 | The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |
| 15057823 | 2004 | The DNA sequence and analysis of human chromosome 13. |
| More... |
