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FLASH GENE
Symbol ASH2L contributors: mct/pgu - updated : 27-04-2014
HGNC name ash2 (absent, small, or homeotic)-like (Drosophila)
HGNC id 744
Location 8p11.23      Physical location : 37.963.010 - 37.997.227
Synonym name
  • ASH2-like protein
  • Set1/Ash2 histone methyltransferase complex subunit ASH2
  • Synonym symbol(s) ASH2, ASH2L1, ASH2L2, Bre2
    DNA
    TYPE functioning gene
    STRUCTURE 34.22 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC392212 8 similar to ribosomal protein L23 MRPS7P1 8p11.22 mitochondrial ribosomal protein S7 pseudogene 1 FKSG2 8p11.2 apoptosis inhibitor LOC392213 8 similar to SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1; BAF57 LOC389647 8 LOC389647 LOC389648 8 LOC389648 FLJ14299 8p11.23 hypothetical protein FLJ14299 C8orf2 8p11.2 chromosome 8 open reading frame 2 PROSC 8p11.2 proline synthetase co-transcribed homolog (bacterial) GPR124 8p11.23 G protein-coupled receptor 124 BRF2 8q11.23 BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like RCP 8p11.22 Rab coupling protein MGC33309 8p11.23 hypothetical protein MGC33309 ASH2L 8p11.2 ash2 (absent, small, or homeotic)-like (Drosophila) STAR 8p11.2 steroidogenic acute regulatory protein LSM1 8p11.2 LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae) BAG4 8p11.23 BCL2-associated athanogene 4 KIAA0725 8p11.22 BCL2-associated athanogene 4 HTPAP 8p11.23 HTPAP protein WHSC1L1 8p12-p11.2 Wolf-Hirschhorn syndrome candidate 1-like 1 FLJ25409 8p11.22 hypothetical protein FLJ25409 FGFR1 8p12 fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome) LOC389649 8 hypothetical gene supported by AK125570 LOC286140 8p11.22 similar to ring finger protein 5 TACC1 8p11 transforming, acidic coiled-coil containing protein 1 PLEKHA2 8p11.21 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 FLJ90724 8p11.22 hypothetical protein FLJ90724 BLP1 8p11.22 BBP-like protein 1 ADAM9 8p12 a disintegrin and metalloproteinase domain 9 (meltrin gamma) ADAM32 8p11.22 a disintegrin and metalloprotease domain 32 ADAM5 8p11.22 a disintegrin and metalloproteinase domain 5 ADAM3A 8p21-p12 a disintegrin and metalloproteinase domain 3a (cyritestin 1) ADAM18 8p11.21 a disintegrin and metalloproteinase domain 18 ADAM2 8p11.2 a disintegrin and metalloproteinase domain 2 (fertilin beta)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 2599 - 628 - 2006 16892064
    16 - 2662 - 534 - 2006 16892064
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   predominantly
    Digestiveesophagus   highly
    Endocrineparathyroid   highly
    Lymphoid/Immunespleen   highly
    Reproductivemale systemtestis  predominantly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text lung, liver, testis
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a bipartite nuclear localization signal (NLS)
  • a PHD type (C4-H-C3) zinc finger domain
  • an atypical PHD finger that does not have histone tail-binding activity
  • a forkhead-like helix-wing-helix (HWH) domain, required for binding to the beta-globin locus control region, histone H3 Lys4 (H3K4) trimethylation and maximal expression of the beta-globin gene (Hbb-1)
  • a zinc finger motif (C2C2) although it is not identical to that in ASH2
  • a highly conserved SPRY domain required for the intrinsic histone methyltransferase activity
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to drosophila Ash2
    Homologene
    FAMILY
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • maintaining chromatin in a transcriptionally active information
  • plays a role in hematopoiesis and is associated with some special kinds of leukemia
  • core component of a multimeric histone methyltransferase complex that epigenetically regulates transcription via methylation of histone lysine residues
  • has a role in chromosome demarcation
  • key regulator of open chromatin in ES cells
  • importance of ASH2L in open chromatin regulation
  • is required for ES cell pluripotency and the global, active chromatin modifications associated with ES cells
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the SETD1A complex, including CCNY, RBBP5, ASH2L, WDR5, and WDR82, associating with SETD1B (COMPASS complex)
  • part of a CHD8/WDR5/ASH2L/RBBP5 complex
  • novel component of the Xi (inactive X chromosome)
  • heterodimer of ASH2L and RBBP5 has intrinsic histone methyltransferase activity
  • core component of the MLL family histone methyltransferases and has an important role in regulating the methylation of histone H3 on lysine 4
  • INTERACTION
    DNA binds DNA using a forkhead-like helix-wing-helix (HWH) domain
    RNA
    small molecule
    protein
  • positively mediates TFAP2D transactivation in a dose-dependent manner
  • FGFR3 is a transcriptional target of TFAP2D and ASH2L-containing histone methyltransferase complexes
  • recruited by XIST concomitantly with HNRNPU and macroH2A at the transition to inactive X chromosome maintenance
  • ASH2L/RBBP5 heterodimer stimulates the MLL1 methyltransferase activity through coordinated substrate interactions with the MLL1 SET domain
  • physical interaction between TBX1 and ASH2L suggesting that at least some functions of TBX1 may be mediated by direct interactions with a histone methyltransferase complex
  • can bind DNA and may function as a DNA-binding factor itself to directly recruit MLL complex to modify histones
  • molecular link between CHD7 and KMT2D function likely via their known interaction with members of the WAR complex (WDR5, ASH2L, RBBP5) which has been shown to be involved in histone methylation
  • cell & other
    REGULATION
    Other methylated by PRMT1, PRMT5 (protein-arginine methyltransferases 1 and 5 methylate Arg-296 within ASH2L)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in leukemia cell lines with erythroid and megakaryocytic potential
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS