Property Summary

NCBI Gene PubMed Count 66
PubMed Score 97.35
PubTator Score 99.96

Knowledge Summary

Patent

No data available

Expression

 GWAS Trait (1)

Gene RIF (54)

PMID Text
27698142 Although enhancer priming by MLL4/KMT2D is dispensable for cell-identity maintenance in mouse, it controls cell fate transition by orchestrating p300-mediated enhancer activation
26722499 Our data suggest that MLL2 protein is overexpressed in primary gastrointestinal diffuse large B cell lymphoma and appears as a prognostic factor
26711341 Whereas Set1 targets are largely associated with the maintenance of the stem cell population, MLL1/2 targets are specifically enriched for genes involved in ciliogenesis.
26551667 Mutations in KMT2D gene is associated with cutaneous T cell lymphoma and Sezary syndrome.
26366712 findings suggest that KMT2D acts as a tumor suppressor gene whose early loss facilitates lymphomagenesis by remodeling the epigenetic landscape of the cancer precursor cells
26366710 KMT2D mutations may promote malignant outgrowth by perturbing the expression of tumor suppressor genes that control B cell-activating pathways
26290144 The results do not support our hypothesis that common germline genetic variants in the MLL2 genes is associated with the risk of developing medulloblastoma.
26194542 In patients with Kabuki Syndrome, autosomal dominant KMT2D mutations are associated with dysregulation of terminal B-cell differentiation, leading to humoral immune deficiency and, in some cases, autoimmunity.
26138514 Mutations in MLL2 are present in approximately 27% of urothelial carcinoma cases .
26049589 Kabuki syndrome may be caused by mutations in one of two histone methyltransferase genes: KMT2D and KDM6A.
26032282 KMT2D represents a recurrently mutated gene with potential implication for pheochromocytoma development.
25972376 Our results provide further support for the similar roles of KMT2D and KDM6A in the etiology of KS by using a vertebrate model organism to provide direct evidence of their roles in the development of organs and tissues affected in KS patients.
25355294 Results from targeted sequencing in patients with acute lymphoblastic leukemia identified KMT2D and KIF1B as novel putative driver genes and a putative regulatory non-coding variant that coincided with overexpression of the growth factor MDK.
25281733 Mutations in KMT2D gene were identified in 10/16 (62%) of the patients, whereas none of the patients had KDM6A mutations.
25123191 Data identified mutations in epigenetic modifiers such as KMT2D as potential early driving events in lymphomagenesis and immune escape alterations as relapse-associated events in diffuse large B-cell lymphoma.
25112956 Reduced or lost expression of MLL2 was commonly observed in tumor tissues as compared with paired adjacent non-tumor tissues regardless of mutation status.
24739679 10 out of the 11 mutations found in patients with Kabuki syndrome were novel. KMT2D mutations included four small deletions or insertions and four nonsense and two missense mutations.
24705355 Like KMT2D, CHD7 interacts with members of the WAR complex, namely WDR5, ASH2L and RbBP5. We therefore propose that CHD7 and KMT2D function in the same chromatin modification machinery.
24491801 High levels of UTX or MLL4 are associated with poor prognosis in patients with breast cancer.
24368734 Identify MLL4 as a major mammalian H3K4 mono- and di-methyltransferase essential for enhancer activation during cell differentiation.
24368734 MLL4 (KMT2D) is a major H3K4 mono- and di-methyltransferase with partial functional redundancy with MLL3 (KMT2C) in mouse and human cells. MLL4 is enriched on enhancers and is required for enhancer activation, cell-type-specific gene expression and cell differentiation.
24368734 MLL4 (KMT2D) is a major H3K4 mono- and di-methyltransferase with partial functional redundancy with MLL3 (KMT2C) in mouse and human cells. MLL4 is enriched on enhancers and is required for enhancer activation, cell-type-specific gene expression and cell differentiation.
24323028 Data indicate that seven genes showed statistical enrichment for mutation: TP53, RB1, PTEN, NFE2L2, KEAP1, MLL2, and PIK3CA.
24240169 Study supports that KMT2D has distinct roles in neoplastic cells, as opposed to normal cells.
24081332 MLL3 and MLL4 function in the regulation of enhancer activity.
23995757 Ectopic AKAP95 stimulates expression of a chromosomal reporter gene in synergy with MLL1 or MLL2, whereas AKAP95 depletion impairs retinoic acid-mediated gene induction in embryonic stem cells
23913813 The identification of novel MLL2 mutations in patients with Kabuki syndrome.
23754336 these results indicate that the suppression of MLL genes, especially MLL2 and MLL5, take part in modulating breast carcinogenesis.
23320472 MLL2 mutation positive patients have a more severe and typical Kabuki phenotype than the MLL2 mutation negative group.
23192982 MLL1 and MLL2 bind to SR-B1 promoter in an E2-dependent manner and control the assembly of transcription pre-initiation complex and RNA polymerase II recruitment.
23184418 MLL2 mutations occur in a subgroup-independent manner.
23131014 Studies indicate that mutation screening confirmed KMT2D (MLL2) as the major causative gene for Kabuki syndrome (KS).
23130995 Studies suggest the KMT2D (MLL2) nomenclature as H3K4 methyltransferases.
23129768 the second PHD finger (PHD2) of MLL1 is an E3 ubiquitin ligase in the presence of the E2-conjugating enzyme CDC34. This activity is conserved in the second PHD finger of MLL4, the closest homolog to MLL1 but not in MLL2 or MLL3.
23045699 results present a genome-wide integrative analysis of the MLL2 target loci and suggest potential mechanisms underlying tumorigenesis driven by MLL2 alterations
22901312 This study expands the known genetic basis of Kabuki syndrome (KS) by showing mosaic mutations and large intragenic deletions and duplications of MLL2 in patients with KS.
22840376 Microdeletions and microduplications have not been identified in the MLL2 and KDM6A genes of a large cohort of patients with Kabuki syndrome.
22829784 we defined a role for Trithorax proteins WDR5 and MLL2 in activating the differentiation gene program in epidermal progenitor cells
22183980 No somatic mutations were identified in the PTCH1, MLL2, and MLL3 genes in our cohort of hepatoblastoma samples
22126750 phenotypic variability of Kabuki syndrome suggests that MLL2 testing should be considered even in atypical patients.
21796119 32% of diffuse large B-cell lymphoma and 89% of follicular lymphoma cases had somatic mutations in MLL2, and 11.4% and 13.4% of DLBCL and FL cases, respectively, had mutations in MEF2B
21683083 These studies demonstrated that HOXC6 is an estrogen-responsive gene, and that histone methylases MLL2 and MLL3, in coordination with ERalpha and ERbeta, transcriptionally regulate HOXC6 in an estrogen-dependent manner.
21671394 MLL2 mutations were found in 81/110 (74%) of Kabuki syndrome families
21658225 a large spectrum of MLL2 mutations in patients with Kabuki syndrome
21447625 The trimethylation of histone H3 at Lys 4 by the MLL2/MLL3 subunits of ASCOM, enhanced by the hormone-induced displacement of the H3K4 demethylase KDM5B, stabilizes NURF binding.
21280141 Direct sequencing of all 54 exons of the MLL2 gene in 45 clinically well-defined Kabuki Syndrome patients identified 34 (75.6%) different mutations. One mutation has been described previously, all others are novel.
20937768 Data show that Pygo2 associates with MLL2 histone methyltransferase and STAGA histone acetyltransferase to facilitate their interaction with beta-catenin and Wnt1-induced, TCF/LEF-dependent transactivation in breast cancer cells.
20711175 Mutations in MLL2 are major cause of Kabuki syndrome.
19556342 ASCOM-MLL3 and ASCOM-MLL4 play redundant but essential roles in FXR transactivation via their histone 3 lysine 4 trimethylation activity.
19221051 Study show that the C-terminal SET domain of MLL3 and MLL4 directly interacts with INI1, an integral subunit of Swi/Snf.
19219072 A molecular mechanism by which the recruitment of a H3K4 histone methyltransferase complex on the promoter of a NF-kappaB-dependent gene induces its expression.
18082152 CGBP interacts with MLL1, MLL2 as well as Set1 H3-Lysine 4 (H3K4) specific methyl-transferases and plays critical roles in regulations of MLL target genes.
17178841 Knockdown of MLL2 reveals ALR target genes and leads to alterations in cell adhesion and growth.
16603732 suggests a central role for the MLL2 complex in the growth of ERalpha-positive cancer cells

AA Sequence

MDSQKLAGEDKDSEPAADGPAASEDPSATESDLPNPHVGEVSVLSSGSPRLQETPQDCSGGPVRRCALCN      1 - 70
CGEPSLHGQRELRRFELPFDWPRCPVVSPGGSPGPNEAVLPSEDLSQIGFPEGLTPAHLGEPGGSCWAHH     71 - 140
WCAAWSAGVWGQEGPELCGVDKAIFSGISQRCSHCTRLGASIPCRSPGCPRLYHFPCATASGSFLSMKTL    141 - 210
QLLCPEHSEGAAYLEEARCAVCEGPGELCDLFFCTSCGHHYHGACLDTALTARKRAGWQCPECKVCQACR    211 - 280
KPGNDSKMLVCETCDKGYHTFCLKPPMEELPAHSWKCKACRVCRACGAGSAELNPNSEWFENYSLCHRCH    281 - 350
KAQGGQTIRSVAEQHTPVCSRFSPPEPGDTPTDEPDALYVACQGQPKGGHVTSMQPKEPGPLQCEAKPLG    351 - 420
KAGVQLEPQLEAPLNEEMPLLPPPEESPLSPPPEESPTSPPPEASRLSPPPEELPASPLPEALHLSRPLE    421 - 490
ESPLSPPPEESPLSPPPESSPFSPLEESPLSPPEESPPSPALETPLSPPPEASPLSPPFEESPLSPPPEE    491 - 560
LPTSPPPEASRLSPPPEESPMSPPPEESPMSPPPEASRLFPPFEESPLSPPPEESPLSPPPEASRLSPPP    561 - 630
EDSPMSPPPEESPMSPPPEVSRLSPLPVVSRLSPPPEESPLSPPPEESPTSPPPEASRLSPPPEDSPTSP    631 - 700
PPEDSPASPPPEDSLMSLPLEESPLLPLPEEPQLCPRSEGPHLSPRPEEPHLSPRPEEPHLSPQAEEPHL    701 - 770
SPQPEEPCLCAVPEEPHLSPQAEGPHLSPQPEELHLSPQTEEPHLSPVPEEPCLSPQPEESHLSPQSEEP    771 - 840
CLSPRPEESHLSPELEKPPLSPRPEKPPEEPGQCPAPEELPLFPPPGEPSLSPLLGEPALSEPGEPPLSP    841 - 910
LPEELPLSPSGEPSLSPQLMPPDPLPPPLSPIITAAAPPALSPLGELEYPFGAKGDSDPESPLAAPILET    911 - 980
PISPPPEANCTDPEPVPPMILPPSPGSPVGPASPILMEPLPPQCSPLLQHSLVPQNSPPSQCSPPALPLS    981 - 1050
VPSPLSPIGKVVGVSDEAELHEMETEKVSEPECPALEPSATSPLPSPMGDLSCPAPSPAPALDDFSGLGE   1051 - 1120
DTAPLDGIDAPGSQPEPGQTPGSLASELKGSPVLLDPEELAPVTPMEVYPECKQTAGQGSPCEEQEEPRA   1121 - 1190
PVAPTPPTLIKSDIVNEISNLSQGDASASFPGSEPLLGSPDPEGGGSLSMELGVSTDVSPARDEGSLRLC   1191 - 1260
TDSLPETDDSLLCDAGTAISGGKAEGEKGRRRSSPARSRIKQGRSSSFPGRRRPRGGAHGGRGRGRARLK   1261 - 1330
STASSIETLVVADIDSSPSKEEEEEDDDTMQNTVVLFSNTDKFVLMQDMCVVCGSFGRGAEGHLLACSQC   1331 - 1400
SQCYHPYCVNSKITKVMLLKGWRCVECIVCEVCGQASDPSRLLLCDDCDISYHTYCLDPPLLTVPKGGWK   1401 - 1470
CKWCVSCMQCGAASPGFHCEWQNSYTHCGPCASLVTCPICHAPYVEEDLLIQCRHCERWMHAGCESLFTE   1471 - 1540
DDVEQAADEGFDCVSCQPYVVKPVAPVAPPELVPMKVKEPEPQYFRFEGVWLTETGMALLRNLTMSPLHK   1541 - 1610
RRQRRGRLGLPGEAGLEGSEPSDALGPDDKKDGDLDTDELLKGEGGVEHMECEIKLEGPVSPDVEPGKEE   1611 - 1680
TEESKKRKRKPYRPGIGGFMVRQRKSHTRTKKGPAAQAEVLSGDGQPDEVIPADLPAEGAVEQSLAEGDE   1681 - 1750
KKKQQRRGRKKSKLEDMFPAYLQEAFFGKELLDLSRKALFAVGVGRPSFGLGTPKAKGDGGSERKELPTS   1751 - 1820
QKGDDGPDIADEESRGLEGKADTPGPEDGGVKASPVPSDPEKPGTPGEGMLSSDLDRISTEELPKMESKD   1821 - 1890
LQQLFKDVLGSEREQHLGCGTPGLEGSRTPLQRPFLQGGLPLGNLPSSSPMDSYPGLCQSPFLDSRERGG   1891 - 1960
FFSPEPGEPDSPWTGSGGTTPSTPTTPTTEGEGDGLSYNQRSLQRWEKDEELGQLSTISPVLYANINFPN   1961 - 2030
LKQDYPDWSSRCKQIMKLWRKVPAADKAPYLQKAKDNRAAHRINKVQKQAESQINKQTKVGDIARKTDRP   2031 - 2100
ALHLRIPPQPGALGSPPPAAAPTIFIGSPTTPAGLSTSADGFLKPPAGSVPGPDSPGELFLKLPPQVPAQ   2101 - 2170
VPSQDPFGLAPAYPLEPRFPTAPPTYPPYPSPTGAPAQPPMLGASSRPGAGQPGEFHTTPPGTPRHQPST   2171 - 2240
PDPFLKPRCPSLDNLAVPESPGVGGGKASEPLLSPPPFGESRKALEVKKEELGASSPSYGPPNLGFVDSP   2241 - 2310
SSGTHLGGLELKTPDVFKAPLTPRASQVEPQSPGLGLRPQEPPPAQALAPSPPSHPDIFRPGSYTDPYAQ   2311 - 2380
PPLTPRPQPPPPESCCALPPRSLPSDPFSRVPASPQSQSSSQSPLTPRPLSAEAFCPSPVTPRFQSPDPY   2381 - 2450
SRPPSRPQSRDPFAPLHKPPRPQPPEVAFKAGSLAHTSLGAGGFPAALPAGPAGELHAKVPSGQPPNFVR   2451 - 2520
SPGTGAFVGTPSPMRFTFPQAVGEPSLKPPVPQPGLPPPHGINSHFGPGPTLGKPQSTNYTVATGNFHPS   2521 - 2590
GSPLGPSSGSTGESYGLSPLRPPSVLPPPAPDGSLPYLSHGASQRSGITSPVEKREDPGTGMGSSLATAE   2591 - 2660
LPGTQDPGMSGLSQTELEKQRQRQRLRELLIRQQIQRNTLRQEKETAAAAAGAVGPPGSWGAEPSSPAFE   2661 - 2730
QLSRGQTPFAGTQDKSSLVGLPPSKLSGPILGPGSFPSDDRLSRPPPPATPSSMDVNSRQLVGGSQAFYQ   2731 - 2800
RAPYPGSLPLQQQQQQLWQQQQATAATSMRFAMSARFPSTPGPELGRQALGSPLAGISTRLPGPGEPVPG   2801 - 2870
PAGPAQFIELRHNVQKGLGPGGTPFPGQGPPQRPRFYPVSEDPHRLAPEGLRGLAVSGLPPQKPSAPPAP   2871 - 2940
ELNNSLHPTPHTKGPTLPTGLELVNRPPSSTELGRPNPLALEAGKLPCEDPELDDDFDAHKALEDDEELA   2941 - 3010
HLGLGVDVAKGDDELGTLENLETNDPHLDDLLNGDEFDLLAYTDPELDTGDKKDIFNEHLRLVESANEKA   3011 - 3080
EREALLRGVEPGPLGPEERPPPAADASEPRLASVLPEVKPKVEEGGRHPSPCQFTIATPKVEPAPAANSL   3081 - 3150
GLGLKPGQSMMGSRDTRMGTGPFSSSGHTAEKASFGATGGPPAHLLTPSPLSGPGGSSLLEKFELESGAL   3151 - 3220
TLPGGPAASGDELDKMESSLVASELPLLIEDLLEHEKKELQKKQQLSAQLQPAQQQQQQQQQHSLLSAPG   3221 - 3290
PAQAMSLPHEGSSPSLAGSQQQLSLGLAGARQPGLPQPLMPTQPPAHALQQRLAPSMAMVSNQGHMLSGQ   3291 - 3360
HGGQAGLVPQQSSQPVLSQKPMGTMPPSMCMKPQQLAMQQQLANSFFPDTDLDKFAAEDIIDPIAKAKMV   3361 - 3430
ALKGIKKVMAQGSIGVAPGMNRQQVSLLAQRLSGGPSSDLQNHVAAGSGQERSAGDPSQPRPNPPTFAQG   3431 - 3500
VINEADQRQYEEWLFHTQQLLQMQLKVLEEQIGVHRKSRKALCAKQRTAKKAGREFPEADAEKLKLVTEQ   3501 - 3570
QSKIQKQLDQVRKQQKEHTNLMAEYRNKQQQQQQQQQQQQQQHSAVLALSPSQSPRLLTKLPGQLLPGHG   3571 - 3640
LQPPQGPPGGQAGGLRLTPGGMALPGQPGGPFLNTALAQQQQQQHSGGAGSLAGPSGGFFPGNLALRSLG   3641 - 3710
PDSRLLQERQLQLQQQRMQLAQKLQQQQQQQQQQQHLLGQVAIQQQQQQGPGVQTNQALGPKPQGLMPPS   3711 - 3780
SHQGLLVQQLSPQPPQGPQGMLGPAQVAVLQQQHPGALGPQGPHRQVLMTQSRVLSSPQLAQQGQGLMGH   3781 - 3850
RLVTAQQQQQQQQHQQQGSMAGLSHLQQSLMSHSGQPKLSAQPMGSLQQLQQQQQLQQQQQLQQQQQQQL   3851 - 3920
QQQQQLQQQQLQQQQQQQQLQQQQQQQLQQQQQQLQQQQQQQQQQFQQQQQQQQMGLLNQSRTLLSPQQQ   3921 - 3990
QQQQVALGPGMPAKPLQHFSSPGALGPTLLLTGKEQNTVDPAVSSEATEGPSTHQGGPLAIGTTPESMAT   3991 - 4060
EPGEVKPSLSGDSQLLLVQPQPQPQPSSLQLQPPLRLPGQQQQQVSLLHTAGGGSHGQLGSGSSSEASSV   4061 - 4130
PHLLAQPSVSLGDQPGSMTQNLLGPQQPMLERPMQNNTGPQPPKPGPVLQSGQGLPGVGIMPTVGQLRAQ   4131 - 4200
LQGVLAKNPQLRHLSPQQQQQLQALLMQRQLQQSQAVRQTPPYQEPGTQTSPLQGLLGCQPQLGGFPGPQ   4201 - 4270
TGPLQELGAGPRPQGPPRLPAPPGALSTGPVLGPVHPTPPPSSPQEPKRPSQLPSPSSQLPTEAQLPPTH   4271 - 4340
PGTPKPQGPTLEPPPGRVSPAAAQLADTLFSKGLGPWDPPDNLAETQKPEQSSLVPGHLDQVNGQVVPEA   4341 - 4410
SQLSIKQEPREEPCALGAQSVKREANGEPIGAPGTSNHLLLAGPRSEAGHLLLQKLLRAKNVQLSTGRGS   4411 - 4480
EGLRAEINGHIDSKLAGLEQKLQGTPSNKEDAAARKPLTPKPKRVQKASDRLVSSRKKLRKEDGVRASEA   4481 - 4550
LLKQLKQELSLLPLTEPAITANFSLFAPFGSGCPVNGQSQLRGAFGSGALPTGPDYYSQLLTKNNLSNPP   4551 - 4620
TPPSSLPPTPPPSVQQKMVNGVTPSEELGEHPKDAASARDSERALRDTSEVKSLDLLAALPTPPHNQTED   4621 - 4690
VRMESDEDSDSPDSIVPASSPESILGEEAPRFPHLGSGRWEQEDRALSPVIPLIPRASIPVFPDTKPYGA   4691 - 4760
LGLEVPGKLPVTTWEKGKGSEVSVMLTVSAAAAKNLNGVMVAVAELLSMKIPNSYEVLFPESPARAGTEP   4761 - 4830
KKGEAEGPGGKEKGLEGKSPDTGPDWLKQFDAVLPGYTLKSQLDILSLLKQESPAPEPPTQHSYTYNVSN   4831 - 4900
LDVRQLSAPPPEEPSPPPSPLAPSPASPPTEPLVELPTEPLAEPPVPSPLPLASSPESARPKPRARPPEE   4901 - 4970
GEDSRPPRLKKWKGVRWKRLRLLLTIQKGSGRQEDEREVAEFMEQLGTALRPDKVPRDMRRCCFCHEEGD   4971 - 5040
GATDGPARLLNLDLDLWVHLNCALWSTEVYETQGGALMNVEVALHRGLLTKCSLCQRTGATSSCNRMRCP   5041 - 5110
NVYHFACAIRAKCMFFKDKTMLCPMHKIKGPCEQELSSFAVFRRVYIERDEVKQIASIIQRGERLHMFRV   5111 - 5180
GGLVFHAIGQLLPHQMADFHSATALYPVGYEATRIYWSLRTNNRRCCYRCSIGENNGRPEFVIKVIEQGL   5181 - 5250
EDLVFTDASPQAVWNRIIEPVAAMRKEADMLRLFPEYLKGEELFGLTVHAVLRIAESLPGVESCQNYLFR   5251 - 5320
YGRHPLMELPLMINPTGCARSEPKILTHYKRPHTLNSTSMSKAYQSTFTGETNTPYSKQFVHSKSSQYRR   5321 - 5390
LRTEWKNNVYLARSRIQGLGLYAAKDLEKHTMVIEYIGTIIRNEVANRREKIYEEQNRGIYMFRINNEHV   5391 - 5460
IDATLTGGPARYINHSCAPNCVAEVVTFDKEDKIIIISSRRIPKGEELTYDYQFDFEDDQHKIPCHCGAW   5461 - 5530
NCRKWMN                                                                  5531 - 5537
//

Text Mined References (81)

PMID Year Title
27698142 2016 Enhancer priming by H3K4 methyltransferase MLL4 controls cell fate transition.
26722499 2015 MLL2 protein is a prognostic marker for gastrointestinal diffuse large B-cell lymphoma.
26711341 2015 Set1 and MLL1/2 Target Distinct Sets of Functionally Different Genomic Loci In Vivo.
26551667 2015 The mutational landscape of cutaneous T cell lymphoma and Sézary syndrome.
26366712 2015 Disruption of KMT2D perturbs germinal center B cell development and promotes lymphomagenesis.
26366710 2015 The histone lysine methyltransferase KMT2D sustains a gene expression program that represses B cell lymphoma development.
26290144 2015 CCND2, CTNNB1, DDX3X, GLI2, SMARCA4, MYC, MYCN, PTCH1, TP53, and MLL2 gene variants and risk of childhood medulloblastoma.
26194542 2016 Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.
26138514 2015 Beyond conventional chemotherapy: Emerging molecular targeted and immunotherapy strategies in urothelial carcinoma.
26049589 2015 Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.
26032282 2015 Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene.
25972376 2015 Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
25355294 2015 The mutational landscape in pediatric acute lymphoblastic leukemia deciphered by whole genome sequencing.
25281733 2015 Kabuki syndrome: clinical and molecular diagnosis in the first year of life.
25218447 2014 Uncovering global SUMOylation signaling networks in a site-specific manner.
25123191 2014 Deep sequencing reveals clonal evolution patterns and mutation events associated with relapse in B-cell lymphomas.
25112956 2014 Exome sequencing identifies frequent mutation of MLL2 in non-small cell lung carcinoma from Chinese patients.
24739679 2014 Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.
24705355 2014 CHARGE and Kabuki syndromes: a phenotypic and molecular link.
24491801 2014 UTX and MLL4 coordinately regulate transcriptional programs for cell proliferation and invasiveness in breast cancer cells.
24368734 2013 H3K4 mono- and di-methyltransferase MLL4 is required for enhancer activation during cell differentiation.
24323028 2014 Integrative and comparative genomic analysis of lung squamous cell carcinomas in East Asian patients.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24240169 2013 KMT2D maintains neoplastic cell proliferation and global histone H3 lysine 4 monomethylation.
24129315 2014 Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
24081332 2013 The MLL3/MLL4 branches of the COMPASS family function as major histone H3K4 monomethylases at enhancers.
23995757 2013 Regulation of transcription by the MLL2 complex and MLL complex-associated AKAP95.
23913813 2013 MLL2 and KDM6A mutations in patients with Kabuki syndrome.
23754336 2013 Altered expression of MLL methyltransferase family genes in breast cancer.
23320472 2013 MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
23192982 2013 MLL histone methylases regulate expression of HDLR-SR-B1 in presence of estrogen and control plasma cholesterol in vivo.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23184418 2013 Aberrant patterns of H3K4 and H3K27 histone lysine methylation occur across subgroups in medulloblastoma.
23131014 2013 Unmasking Kabuki syndrome.
23130995 2013 Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases.
23129768 2012 A subset of mixed lineage leukemia proteins has plant homeodomain (PHD)-mediated E3 ligase activity.
23045699 2012 Global identification of MLL2-targeted loci reveals MLL2's role in diverse signaling pathways.
22901312 2013 MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.
22840376 2012 Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.
22829784 2012 GRHL3/GET1 and trithorax group members collaborate to activate the epidermal progenitor differentiation program.
22183980 2012 Mutations of PTCH1, MLL2, and MLL3 are not frequent events in hepatoblastoma.
22126750 2012 How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.
21796119 2011 Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma.
21683083 2011 HOXC6 Is transcriptionally regulated via coordination of MLL histone methylase and estrogen receptor in an estrogen environment.
21671394 2011 Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
21658225 2011 Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
21607748 2011 A mutation screen in patients with Kabuki syndrome.
21447625 2011 Four enzymes cooperate to displace histone H1 during the first minute of hormonal gene activation.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21280141 2011 MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
20937768 2010 Pygo2 associates with MLL2 histone methyltransferase and GCN5 histone acetyltransferase complexes to augment Wnt target gene expression and breast cancer stem-like cell expansion.
20808952 2010 MLL2 is required in oocytes for bulk histone 3 lysine 4 trimethylation and transcriptional silencing.
20711175 2010 Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19556342 2009 ASCOM controls farnesoid X receptor transactivation through its associated histone H3 lysine 4 methyltransferase activity.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19221051 2009 Crucial roles for interactions between MLL3/4 and INI1 in nuclear receptor transactivation.
19219072 2009 Matrix Metalloproteinase-9 gene induction by a truncated oncogenic NF-kappaB2 protein involves the recruitment of MLL1 and MLL2 H3K4 histone methyltransferase complexes.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18220336 2008 Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
18082152 2008 Human CpG binding protein interacts with MLL1, MLL2 and hSet1 and regulates Hox gene expression.
17851529 2007 A histone H3 lysine 27 demethylase regulates animal posterior development.
17761849 2007 Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination.
17525332 2007 ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
17500065 2007 PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex.
17178841 2007 Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
17021013 2006 Coactivator as a target gene specificity determinant for histone H3 lysine 4 methyltransferases.
16603732 2006 Identification of the MLL2 complex as a coactivator for estrogen receptor alpha.
16541075 2006 The finished DNA sequence of human chromosome 12.
15302935 2004 Large-scale characterization of HeLa cell nuclear phosphoproteins.
15231748 2004 Functional proteomics mapping of a human signaling pathway.
12482968 2003 Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10737800 2000 Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.
9247308 1997 Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax.
9225980 1997 cDNAs with long CAG trinucleotide repeats from human brain.
8896557 1996 Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.
8595911 1995 Characterization of four novel CAG repeat-containing cDNAs.