Property Summary

NCBI Gene PubMed Count 46
PubMed Score 32.46
PubTator Score 46.81

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (3)

Disease Target Count
Menopause present (finding) 20
Disease Target Count P-value
osteosarcoma 7933 2.5e-04
Disease Target Count Z-score Confidence
Kabuki syndrome 29 3.572 1.8
Leukemia 88 3.545 1.8

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma -1.582 2.5e-04

 GWAS Trait (1)

Gene RIF (18)

PMID Text
25996283 the histone methyltransferase core enzyme ASH2L was bound at EGFR in the germinal matrix and in gliomas where levels of H3K4me3 are high, and the histone acetyltransferase P300 was bound in samples with H3K27ac enrichment
25258321 ASH2L enhances ERalpha expression as a coactivator of GATA3 in breast cancers
25023704 Ash2L acts in concert with P53 promoter occupancy to activate RNA Polymerase II by aiding formation of a stable transcription pre-initiation complex required for its activation.
24680668 Non active site mutations in the MLL1 SET domain render the protein defective for H3K4 dimethylation by the MLL1 core complex, which is associated with a loss of the ability of MLL1 to interact with WRAD or with the RbBP5/Ash2L heterodimer.
24235145 Data indicate that MLL1 methylates Ash2L in the absence of histone H3, but only when assembled within a complex with WDR5 and RbBP5.
23453805 H2B dependent regulation of MLL family histone methylatransferases depends on the N-terminal WH motif of ASH2L.
22231628 crystal structure of the C-terminal SPRY domain of human Ash2L
21660059 The structure shows that Ash2L contains an atypical PHD finger that does not have histone tail-binding activity.
21642971 ASH2L binds DNA using a forkhead-like helix-wing-helix (HWH) domain.
21445285 NF-Y acts upstream of H3K4me3 deposition by recruiting Ash2L
21285357 Protein-arginine methyltransferase 1 (PRMT1) methylates Ash2L, a shared component of mammalian histone H3K4 methyltransferase complexes.
21124902 Data suggest that both Ash2L/RbBP5 and the MLL1 SET domain make direct contacts with the substrates and contribute to the formation of a joint catalytic center.
20150277 Ash2l and Saf-A are recruited to the inactive X chromosome at the onset of stable X inactivation.
20085832 Results show that Depletion of CHD8 enhances HOXA2 expression and a loss of the WDR5/Ash2L/RbBP5 subcomplex.
19896696 high dimethylation of histone H3 at lysine 4 expression is rare in hepatocellular carcinoma compared with other carcinomas, possibly due to complex epigenetic regulation involving Ash2
19131338 The identified components revealed factors involved in histone methylation and cell cycle control and include Ash2L, RbBP5, WDR5, HCF-1, DBC-1, and EMSY.
18245475 Although hASH2 expression at the mRNA level was not deregulated, hASH2 protein expression was increased in most human tumors and tumor cell lines. Knockdown of hASH2 inhibited tumor cell proliferation. These show hASH2 as a novel oncoprotein.
16892064 These findings offer insight into the molecular role of ASH2L, and by extension that of WDR5, in proper H3K4 trimethylation.

AA Sequence

MAAAGAGPGQEAGAGPGPGAVANATGAEEGEMKPVAAGAAAPPGEGISAAPTVEPSSGEAEGGEANLVDV      1 - 70
SGGLETESSNGKDTLEGAGDTSEVMDTQAGSVDEENGRQLGEVELQCGICTKWFTADTFGIDTSSCLPFM     71 - 140
TNYSFHCNVCHHSGNTYFLRKQANLKEMCLSALANLTWQSRTQDEHPKTMFSKDKDIIPFIDKYWECMTT    141 - 210
RQRPGKMTWPNNIVKTMSKERDVFLVKEHPDPGSKDPEEDYPKFGLLDQDLSNIGPAYDNQKQSSAVSTS    211 - 280
GNLNGGIAAGSSGKGRGAKRKQQDGGTTGTTKKARSDPLFSAQRLPPHGYPLEHPFNKDGYRYILAEPDP    281 - 350
HAPDPEKLELDCWAGKPIPGDLYRACLYERVLLALHDRAPQLKISDDRLTVVGEKGYSMVRASHGVRKGA    351 - 420
WYFEITVDEMPPDTAARLGWSQPLGNLQAPLGYDKFSYSWRSKKGTKFHQSIGKHYSSGYGQGDVLGFYI    421 - 490
NLPEDTETAKSLPDTYKDKALIKFKSYLYFEEKDFVDKAEKSLKQTPHSEIIFYKNGVNQGVAYKDIFEG    491 - 560
VYFPAISLYKSCTVSINFGPCFKYPPKDLTYRPMSDMGWGAVVEHTLADVLYHVETEVDGRRSPPWEP      561 - 628
//

Text Mined References (53)

PMID Year Title
25996283 2015 EGFR promoter exhibits dynamic histone modifications and binding of ASH2L and P300 in human germinal matrix and gliomas.
25416956 2014 A proteome-scale map of the human interactome network.
25258321 2014 Absent, small or homeotic 2-like protein (ASH2L) enhances the transcription of the estrogen receptor ? gene through GATA-binding protein 3 (GATA3).
25023704 2015 Ash2L enables P53-dependent apoptosis by favoring stable transcription pre-initiation complex formation on its pro-apoptotic target promoters.
24680668 2014 A non-active-site SET domain surface crucial for the interaction of MLL1 and the RbBP5/Ash2L heterodimer within MLL family core complexes.
24235145 2014 Automethylation activities within the mixed lineage leukemia-1 (MLL1) core complex reveal evidence supporting a "two-active site" model for multiple histone H3 lysine 4 methylation.
23870121 2013 SET1 and p300 act synergistically, through coupled histone modifications, in transcriptional activation by p53.
23453805 2013 ASH2L regulates ubiquitylation signaling to MLL: trans-regulation of H3 K4 methylation in higher eukaryotes.
23414517 2013 A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.
23307926 2013 A genome-wide association study of early menopause and the combined impact of identified variants.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22723415 2012 Wnt/?-catenin signaling regulates telomerase in stem cells and cancer cells.
22267201 2012 Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
22231628 2012 Structure of the SPRY domain of human Ash2L and its interactions with RbBP5 and DPY30.
21660059 2011 Crystal structure of the N-terminal region of human Ash2L shows a winged-helix motif involved in DNA binding.
21642971 2011 Crystal structure of the trithorax group protein ASH2L reveals a forkhead-like DNA binding domain.
21516116 2011 Next-generation sequencing to generate interactome datasets.
21445285 2011 NF-Y recruits Ash2L to impart H3K4 trimethylation on CCAAT promoters.
21285357 2011 Protein-arginine methyltransferase 1 (PRMT1) methylates Ash2L, a shared component of mammalian histone H3K4 methyltransferase complexes.
21269460 2011 Initial characterization of the human central proteome.
21124902 2010 An Ash2L/RbBP5 heterodimer stimulates the MLL1 methyltransferase activity through coordinated substrate interactions with the MLL1 SET domain.
20150277 2010 The Trithorax group protein Ash2l and Saf-A are recruited to the inactive X chromosome at the onset of stable X inactivation.
20085832 2010 Regulation of HOXA2 gene expression by the ATP-dependent chromatin remodeling enzyme CHD8.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19896696 2010 H3K4 dimethylation in hepatocellular carcinoma is rare compared with other hepatobiliary and gastrointestinal carcinomas and correlates with expression of the methylase Ash2 and the demethylase LSD1.
19556245 2009 On the mechanism of multiple lysine methylation by the human mixed lineage leukemia protein-1 (MLL1) core complex.
19187761 2009 Structural basis for the requirement of additional factors for MLL1 SET domain activity and recognition of epigenetic marks.
19131338 2009 Identification and characterization of a novel nuclear protein complex involved in nuclear hormone receptor-mediated gene regulation.
18838538 2008 Molecular regulation of H3K4 trimethylation by Wdr82, a component of human Set1/COMPASS.
18245475 2008 The human trithorax protein hASH2 functions as an oncoprotein.
17998332 2008 Wdr82 is a C-terminal domain-binding protein that recruits the Setd1A Histone H3-Lys4 methyltransferase complex to transcription start sites of transcribed human genes.
17925232 2007 The BRCT-domain containing protein PTIP links PAX2 to a histone H3, lysine 4 methyltransferase complex.
17500065 2007 PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex.
17355966 2007 Identification and characterization of the human Set1B histone H3-Lys4 methyltransferase complex.
17178841 2007 Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth.
16892064 2006 Molecular regulation of H3K4 trimethylation by ASH2L, a shared subunit of MLL complexes.
16603732 2006 Identification of the MLL2 complex as a coactivator for estrogen receptor alpha.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16253997 2005 CpG-binding protein (CXXC finger protein 1) is a component of the mammalian Set1 histone H3-Lys4 methyltransferase complex, the analogue of the yeast Set1/COMPASS complex.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15960975 2005 Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF.
15761153 2005 High-throughput mapping of a dynamic signaling network in mammalian cells.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15231748 2004 Functional proteomics mapping of a human signaling pathway.
15199122 2004 Leukemia proto-oncoprotein MLL forms a SET1-like histone methyltransferase complex with menin to regulate Hox gene expression.
14992727 2004 Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12670868 2003 Human Sin3 deacetylase and trithorax-related Set1/Ash2 histone H3-K4 methyltransferase are tethered together selectively by the cell-proliferation factor HCF-1.
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.
11466562 2001 ASH2L: alternative splicing and downregulation during induced megakaryocytic differentiation of multipotential leukemia cell lines.
10393421 1999 Cloning and characterization of ASH2L and Ash2l, human and mouse homologs of the Drosophila ash2 gene.