Property Summary

NCBI Gene PubMed Count 51
Grant Count 1,568
R01 Count 979
Funding $196,623,570.71
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 0.004
psoriasis -2.500 0.000
osteosarcoma -1.670 0.000
ovarian cancer 1.300 0.006
Gaucher disease type 1 -1.100 0.005
dermatomyositis 1.200 0.001

Synonym

Accession Q9BYW2 O75397 O75405 Q17RW8 Q5BKS9 Q5QGN2 Q69YI5 Q6IN64 Q6ZN53 Q6ZS25 Q8N3R0 Q8TCN0 Q9C0D1 Q9H696 Q9NZW9
Symbols LLS
HYPB
SET2
HIF-1
HIP-1
KMT3A
HBP231
HSPC069
p231HBP

Gene

PDB

2A7O   2MDC   2MDI   2MDJ   4FMU   4H12  

 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.
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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.
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