Property Summary

NCBI Gene PubMed Count 51
PubMed Score 585.64
PubTator Score 235.62

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
Rheumatoid Arthritis 2.000 3.7e-03
psoriasis -2.500 2.1e-04
osteosarcoma -1.670 2.9e-05
ovarian cancer 1.300 5.9e-03
Gaucher disease type 1 -1.100 4.9e-03
dermatomyositis 1.200 8.7e-04

 GO Component (2)

Gene RIF (35)

PMID Text
26637798 This study provide the evidence SETD2 mutation releate to Autism Spectrum Disorder.
26452128 Use bioinformatic tools to predict the molecular effects of all mutations lying in SETD2 genes.
26172293 This study provides evidence for HOTAIR to promote tumorigenesis via downregulating SETD2 in liver cancer stem cells.
26069251 miRNA network regulates SETD2 in in colorectal metastasis tissues.
26002201 Both ASH1L and SETD2 are H3K36 specific methyltransferases but only SETD2 can trimethylate this mark.
25728682 Data show that SETD2 mutations are not associated with microsatellite instability in renal cancer and suggest a role for SETD2 in maintaining genome integrity through nucleosome stabilization, DNA repair and suppression of replication stress.
25714014 Findings extend the knowledge about the regulation of SETD2 at the posttranscriptional level by miRNA and regulatory mechanism downstream of SETD2 in ccRCC.
25528216 found that SETD2 mutation also mediated MMR via AKT-induced PMS2 decrease and co-loss of MLH1 loss in renal clear cell carcinoma
25077743 association of SETD2 mutations with multiple major chromosomal translocations implies a common mechanism in various subtypes of leukemia with SETD2 mutations
24931610 Data establish a presynaptic role for SETD2 methyltransferase in HR; it facilitates the recruitment of C-terminal binding protein interacting protein and promotes DSB resection, allowing Replication Protein A (RPA) and RAD51 binding to DNA damage sites.
24852293 Identified two heterozygous mutations in the SETD2 gene in two patients with 'Sotos-like' syndrome.
24843002 loss of SETD2 may afford an alternative mechanism for the inactivation of the p53-mediated checkpoint without the need for additional genetic mutations in TP53.
24706662 Results implicate SETD2 as a tumor suppressor gene and demonstrate that loss-of-function SETD2 mutations can facilitate the initiation and maintenance of leukemias with chromosomal translocations through a global reduction of H3K36me3.
24662245 Mutations in epigenetic regulators including SETD2 are gained during relapse in paediatric acute lymphoblastic leukaemia.
24509477 loss-of-function point mutations in SETD2 were recurrent (6.2%) in 241 patients with acute leukemia and were associated with multiple major chromosomal aberrations
24412394 HYPB interacts with the proline-rich region of HTT protein.
24158655 These results directly link mutations in SETD2 to chromatin accessibility changes and RNA processing defects in cancer
24029645 Mutation frequencies among CT images of clear cell RCCs were as follows: SETD2, 7.3% (17 of 233).
24019522 all of the H3K36-specific methyltransferases, including ASH1L, HYPB, NSD1, and NSD2 were inhibited by ubH2A, whereas the other histone methyltransferases, including PRC2, G9a, and Pr-Set7 were not affected by ubH2A.
23644518 PBRM1, KDM6A, SETD2 and BAP1 were unmethylated in all tumor and normal specimens.
23620406 BAP1 and SETD2 mutations (6%-12%) are associated with worse cancer-specific survival , suggesting their roles in disease progression.
23417712 SETD2 mutations were found to be specific to high-grade gliomas affecting 15% of pediatric tumors(11/73) and 8% of adult high-grade gliomas (5/65), while no SETD2 mutations were identified in low-grade diffuse gliomas.
23325844 SETD2 activity modulates FACT recruitment and nucleosome dynamics, thereby repressing cryptic transcription initiation.
23065515 SETD3 exhibits histone methyltransferases activity on nucleosomal histone 3 in a SET-domain dependent manner. We propose that this newly identified Setd3 gene may play an important role in carcinogenesis.
20944102 This study offers further evidence that SETD2 behaves like a tumour suppressor gene
20501857 Identification of missense mutations in 2 out of 10 primary cRCC tumor samples added support to the involvement of loss of SETD2 function in the development of cRCC tumors.
20054297 identification of inactivating mutations in two genes--SETD2, a histone H3 lysine 36 methyltransferase, and JARID1C, a histone H3 lysine 4 demethylase--as well as mutations in the histone H3 lysine 27 demethylase, UTX in clear cell renal cell carcinoma
19698110 The levels of SETD2 mRNA were significantly lower in malignant breast cancer.
19367581 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19155214 Transcription analysis and genome-wide histone modification studies on these mutants suggested that K36me2 is sufficient to target Rpd3S in vivo, thereby maintaining a functional Set2-Rpd3S pathway.
19141475 Iws1 connects two distinct CTD-binding proteins, Spt6 and HYPB/Setd2, in a megacomplex that affects mRNA export as well as the histone modification state of active genes
18585004 These findings suggest that the histone methyltransferase SETD2 could selectively regulate the transcription of subset genes via cooperation with the transcription factor p53.
16314571 solution structure of the Set2-Rpb1 interacting domain in human Set2 (hSRI domain).
16118227 HYPB HMTase may coordinate histone methylation and transcriptional regulation in mammals
16118227 HYPB protein is a histone H3 lysine 36-specific methyltransferase that associates with hyperphosphorylated RNA polymerase II.

AA Sequence

MKQLQPQPPPKMGDFYDPEHPTPEEEENEAKIENVQKTGFIKGPMFKGVASSRFLPKGTKTKVNLEEQGR      1 - 70
QKVSFSFSLTKKTLQNRFLTALGNEKQSDTPNPPAVPLQVDSTPKMKMEIGDTLSTAEESSPPKSRVELG     71 - 140
KIHFKKHLLHVTSRPLLATTTAVASPPTHAAPLPAVIAESTTVDSPPSSPPPPPPPAQATTLSSPAPVTE    141 - 210
PVALPHTPITVLMAAPVPLPVDVAVRSLKEPPIIIVPESLEADTKQDTISNSLEEHVTQILNEQADISSK    211 - 280
KEDSHIGKDEEIPDSSKISLSCKKTGSKKKSSQSEGIFLGSESDEDSVRTSSSQRSHDLKFSASIEKERD    281 - 350
FKKSSAPLKSEDLGKPSRSKTDRDDKYFSYSKLERDTRYVSSRCRSERERRRSRSHSRSERGSRTNLSYS    351 - 420
RSERSHYYDSDRRYHRSSPYRERTRYSRPYTDNRARESSDSEEEYKKTYSRRTSSHSSSYRDLRTSSYSK    421 - 490
SDRDCKTETSYLEMERRGKYSSKLERESKRTSENEAIKRCCSPPNELGFRRGSSYSKHDSSASRYKSTLS    491 - 560
KPIPKSDKFKNSFCCTELNEEIKQSHSFSLQTPCSKGSELRMINKNPEREKAGSPAPSNRLNDSPTLKKL    561 - 630
DELPIFKSEFITHDSHDSIKELDSLSKVKNDQLRSFCPIELNINGSPGAESDLATFCTSKTDAVLMTSDD    631 - 700
SVTGSELSPLVKACMLSSNGFQNISRCKEKDLDDTCMLHKKSESPFRETEPLVSPHQDKLMSMPVMTVDY    701 - 770
SKTVVKEPVDTRVSCCKTKDSDIYCTLNDSNPSLCNSEAENIEPSVMKISSNSFMNVHLESKPVICDSRN    771 - 840
LTDHSKFACEEYKQSIGSTSSASVNHFDDLYQPIGSSGIASSLQSLPPGIKVDSLTLLKCGENTSPVLDA    841 - 910
VLKSKKSSEFLKHAGKETIVEVGSDLPDSGKGFASRENRRNNGLSGKCLQEAQEEGNSILPERRGRPEIS    911 - 980
LDERGEGGHVHTSDDSEVVFSSCDLNLTMEDSDGVTYALKCDSSGHAPEIVSTVHEDYSGSSESSNDESD    981 - 1050
SEDTDSDDSSIPRNRLQSVVVVPKNSTLPMEETSPCSSRSSQSYRHYSDHWEDERLESRRHLYEEKFESI   1051 - 1120
ASKACPQTDKFFLHKGTEKNPEISFTQSSRKQIDNRLPELSHPQSDGVDSTSHTDVKSDPLGHPNSEETV   1121 - 1190
KAKIPSRQQEELPIYSSDFEDVPNKSWQQTTFQNRPDSRLGKTELSFSSSCEIPHVDGLHSSEELRNLGW   1191 - 1260
DFSQEKPSTTYQQPDSSYGACGGHKYQQNAEQYGGTRDYWQGNGYWDPRSGRPPGTGVVYDRTQGQVPDS   1261 - 1330
LTDDREEEENWDQQDGSHFSDQSDKFLLSLQKDKGSVQAPEISSNSIKDTLAVNEKKDFSKNLEKNDIKD   1331 - 1400
RGPLKKRRQEIESDSESDGELQDRKKVRVEVEQGETSVPPGSALVGPSCVMDDFRDPQRWKECAKQGKMP   1401 - 1470
CYFDLIEENVYLTERKKNKSHRDIKRMQCECTPLSKDERAQGEIACGEDCLNRLLMIECSSRCPNGDYCS   1471 - 1540
NRRFQRKQHADVEVILTEKKGWGLRAAKDLPSNTFVLEYCGEVLDHKEFKARVKEYARNKNIHYYFMALK   1541 - 1610
NDEIIDATQKGNCSRFMNHSCEPNCETQKWTVNGQLRVGFFTTKLVPSGSELTFDYQFQRYGKEAQKCFC   1611 - 1680
GSANCRGYLGGENRVSIRAAGGKMKKERSRKKDSVDGELEALMENGEGLSDKNQVLSLSRLMVRIETLEQ   1681 - 1750
KLTCLELIQNTHSQSCLKSFLERHGLSLLWIWMAELGDGRESNQKLQEEIIKTLEHLPIPTKNMLEESKV   1751 - 1820
LPIIQRWSQTKTAVPPLSEGDGYSSENTSRAHTPLNTPDPSTKLSTEADTDTPKKLMFRRLKIISENSMD   1821 - 1890
SAISDATSELEGKDGKEDLDQLENVPVEEEEELQSQQLLPQQLPECKVDSETNIEASKLPTSEPEADAEI   1891 - 1960
EPKESNGTKLEEPINEETPSQDEEEGVSDVESERSQEQPDKTVDISDLATKLLDSWKDLKEVYRIPKKSQ   1961 - 2030
TEKENTTTERGRDAVGFRDQTPAPKTPNRSRERDPDKQTQNKEKRKRRSSLSPPSSAYERGTKRPDDRYD   2031 - 2100
TPTSKKKVRIKDRNKLSTEERRKLFEQEVAQREAQKQQQQMQNLGMTSPLPYDSLGYNAPHHPFAGYPPG   2101 - 2170
YPMQAYVDPSNPNAGKVLLPTPSMDPVCSPAPYDHAQPLVGHSTEPLSAPPPVPVVPHVAAPVEVSSSQY   2171 - 2240
VAQSDGVVHQDSSVAVLPVPAPGPVQGQNYSVWDSNQQSVSVQQQYSPAQSQATIYYQGQTCPTVYGVTS   2241 - 2310
PYSQTTPPIVQSYAQPSLQYIQGQQIFTAHPQGVVVQPAAAVTTIVAPGQPQPLQPSEMVVTNNLLDLPP   2311 - 2380
PSPPKPKTIVLPPNWKTARDPEGKIYYYHVITRQTQWDPPTWESPGDDASLEHEAEMDLGTPTYDENPMK   2381 - 2450
ASKKPKTAEADTSSELAKKSKEVFRKEMSQFIVQCLNPYRKPDCKVGRITTTEDFKHLARKLTHGVMNKE   2451 - 2520
LKYCKNPEDLECNENVKHKTKEYIKKYMQKFGAVYKPKEDTELE                             2521 - 2564
//

Text Mined References (69)

PMID Year Title
26637798 2015 Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.
26452128 2015 Computational analysis of the mutations in BAP1, PBRM1 and SETD2 genes reveals the impaired molecular processes in renal cell carcinoma.
26172293 2015 LncRNA HOTAIR promotes human liver cancer stem cell malignant growth through downregulation of SETD2.
26084711 2015 Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy.
26069251 2015 A Systematic Approach to Defining the microRNA Landscape in Metastasis.
26002201 2015 Kinetic characterization of human histone H3 lysine 36 methyltransferases, ASH1L and SETD2.
25755297 2015 System-wide Analysis of SUMOylation Dynamics in Response to Replication Stress Reveals Novel Small Ubiquitin-like Modified Target Proteins and Acceptor Lysines Relevant for Genome Stability.
25728682 2015 SETD2 loss-of-function promotes renal cancer branched evolution through replication stress and impaired DNA repair.
25714014 2015 miR-106b-5p targets tumor suppressor gene SETD2 to inactive its function in clear cell renal cell carcinoma.
25528216 2015 Loss of MLH1 confers resistance to PI3K? inhibitors in renal clear cell carcinoma with SETD2 mutation.
25077743 2014 Evidences for mutations in the histone modifying gene SETD2 as critical drivers in leukemia development.
24931610 2014 SETD2-dependent histone H3K36 trimethylation is required for homologous recombination repair and genome stability.
24852293 2014 Mutations in SETD2 cause a novel overgrowth condition.
24843002 2014 SETD2 is required for DNA double-strand break repair and activation of the p53-mediated checkpoint.
24706662 2014 SETD2 mutations cooperate with chromosomal aberrations in leukemia.
24662245 2014 Mutations in epigenetic regulators including SETD2 are gained during relapse in paediatric acute lymphoblastic leukaemia.
24509477 2014 Identification of functional cooperative mutations of SETD2 in human acute leukemia.
24412394 2014 Autoinhibitory structure of the WW domain of HYPB/SETD2 regulates its interaction with the proline-rich region of huntingtin.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24158655 2014 Variation in chromatin accessibility in human kidney cancer links H3K36 methyltransferase loss with widespread RNA processing defects.
24097068 2013 Discovery and refinement of loci associated with lipid levels.
24029645 2014 Radiogenomics of clear cell renal cell carcinoma: associations between CT imaging features and mutations.
24019522 2013 Histone H2A ubiquitination inhibits the enzymatic activity of H3 lysine 36 methyltransferases.
23792563 2013 Comprehensive molecular characterization of clear cell renal cell carcinoma.
23644518 2013 Aberrant promoter hypermethylation of PBRM1, BAP1, SETD2, KDM6A and other chromatin-modifying genes is absent or rare in clear cell RCC.
23622243 2013 The histone mark H3K36me3 regulates human DNA mismatch repair through its interaction with MutS?.
23620406 2013 Adverse outcomes in clear cell renal cell carcinoma with mutations of 3p21 epigenetic regulators BAP1 and SETD2: a report by MSKCC and the KIRC TCGA research network.
23417712 2013 Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas.
23325844 2013 Histone methyltransferase SETD2 coordinates FACT recruitment with nucleosome dynamics during transcription.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
23065515 2013 The role of a newly identified SET domain-containing protein, SETD3, in oncogenesis.
23043551 2012 Sinefungin derivatives as inhibitors and structure probes of protein lysine methyltransferase SETD2.
21988832 2011 Toward an understanding of the protein interaction network of the human liver.
21792193 2011 Splicing enhances recruitment of methyltransferase HYPB/Setd2 and methylation of histone H3 Lys36.
21526191 2011 Relationship between gene body DNA methylation and intragenic H3K9me3 and H3K36me3 chromatin marks.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
20944102 2010 Evidence for a tumour suppressor function of SETD2 in human breast cancer: a new hypothesis.
20501857 2010 Histone methyltransferase gene SETD2 is a novel tumor suppressor gene in clear cell renal cell carcinoma.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20054297 2010 Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.
19698110 2009 The mRNA expression of SETD2 in human breast cancer: correlation with clinico-pathological parameters.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19367581 2010 Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population.
19332550 2009 Heterogeneous nuclear ribonucleoprotein L Is a subunit of human KMT3a/Set2 complex required for H3 Lys-36 trimethylation activity in vivo.
19155214 2009 Histone H3 lysine 36 dimethylation (H3K36me2) is sufficient to recruit the Rpd3s histone deacetylase complex and to repress spurious transcription.
19141475 2008 The Iws1:Spt6:CTD complex controls cotranscriptional mRNA biosynthesis and HYPB/Setd2-mediated histone H3K36 methylation.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18585004 2008 Histone methyltransferase protein SETD2 interacts with p53 and selectively regulates its downstream genes.
18220336 2008 Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17500595 2007 Huntingtin interacting proteins are genetic modifiers of neurodegeneration.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16314571 2005 Solution structure of the Set2-Rpb1 interacting domain of human Set2 and its interaction with the hyperphosphorylated C-terminal domain of Rpb1.
16118227 2005 Identification and characterization of a novel human histone H3 lysine 36-specific methyltransferase.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15302935 2004 Large-scale characterization of HeLa cell nuclear phosphoproteins.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12168954 2002 Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
11461154 2001 Identification of the full-length huntingtin- interacting protein p231HBP/HYPB as a DNA-binding factor.
11214970 2000 Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
11042152 2000 Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.
10958656 2000 Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis.
9700202 1998 Huntingtin interacts with a family of WW domain proteins.