Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



ASH2L Gene

protein-coding   GIFtS: 59
GCID: GC08P037963

Ash2 (Absent, Small, Or Homeotic)-Like (Drosophila)

(Previous names: ash2 (absent, small, or homeotic, Drosophila, homolog)-like)
(Previous symbol: ASH2L1)
  Try our

disease database 

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Ash2 (Absent, Small, Or Homeotic)-Like (Drosophila)1 2     Ash2 (Absent, Small, Or Homeotic, Drosophila, Homolog)-Like1
ASH2L11 2 3 5     ASH22
ASH2-Like Protein2 3     Bre22
ASH2L22 5     Set1/Ash2 Histone Methyltransferase Complex Subunit ASH22

External Ids:    HGNC: 7441   Entrez Gene: 90702   Ensembl: ENSG000001296917   OMIM: 6047825   UniProtKB: Q9UBL33   

Export aliases for ASH2L gene to outside databases

Previous GC identifers: GC08M037436 GC08P038091 GC08P037704 GC08P037980 GC08P038082 GC08P036498


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

GeneCards Summary for ASH2L Gene:
ASH2L (ash2 (absent, small, or homeotic)-like (Drosophila)) is a protein-coding gene. GO annotations related to this gene include histone methyltransferase activity (H3-K4 specific) and transcription regulatory region DNA binding.

UniProtKB/Swiss-Prot: ASH2L_HUMAN, Q9UBL3
Function: Component of the Set1/Ash2 histone methyltransferase (HMT) complex, a complex that specifically
methylates 'Lys-4' of histone H3, but not if the neighboring 'Lys-9' residue is already methylated. As part of
the MLL1/MLL complex it is involved in methylation and dimethylation at 'Lys-4' of histone H3. May function as a
transcriptional regulator. May play a role in hematopoiesis

Gene Wiki entry for ASH2L Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NT_167187.2  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ASH2L gene promoter:
         Elk-1   HTF   p300   XBP-1   c-Ets-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidASH2L promoter sequence
   Search Chromatin IP Primers for ASH2L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ASH2L


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p11.2   Ensembl cytogenetic band:  8p11.23   HGNC cytogenetic band: 8p11.2

ASH2L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASH2L gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P037963:  view genomic region     (about GC identifiers)

Start:
37,962,760 bp from pter      End:
38,001,594 bp from pter
Size:
38,835 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: ASH2L_HUMAN, Q9UBL3 (See protein sequence)
Recommended Name: Set1/Ash2 histone methyltransferase complex subunit ASH2  
Size: 628 amino acids; 68723 Da
Subunit: Interacts with HCFC1. Core component of several methyltransferase-containing complexes including
MLL1/MLL, MLL2/3 (also named ASCOM complex) and MLL4/WBP7. Each complex is at least composed of ASH2L, RBBP5,
WDR5, DPY30, one or more specific histone methyltransferases (KMT2A/MLL1, KMT2D/MLL2, KMT2C/MLL3 and KMT2B/MLL4),
and the facultative components PAGR1, BAP18, CHD8, E2F6, HCFC1, HCFC2, HSP70, INO80C, KDM6A, KANSL1, LAS1L, MAX,
MCRS1, MEN1, MGA, KAT8/MOF, NCOA6, PAXIP1/PTIP, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3,
TAF1, TAF4, TAF6, TAF7, TAF9, TEX10 and alpha- and beta-tubulin. Interacts with DPY30 and RBBP5; the interaction
is direct. Component of the SET1 complex, at least composed of the catalytic subunit (SETD1A or SETD1B), WDR5,
WDR82, RBBP5, ASH2L/ASH2, CXXC1/CFP1, HCFC1 and DPY30. Interacts with SETD1A and SETD1B
3 PDB 3D structures from and Proteopedia for ASH2L:
3RSN (3D)        3S32 (3D)        3TOJ (3D)    
Secondary accessions: A8K7C3 D3DSW9 O60659 O60660 Q96B62
Alternative splicing: 3 isoforms:  Q9UBL3-1   Q9UBL3-2   Q9UBL3-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ASH2L: NX_Q9UBL3

Explore proteomics data for ASH2L at MOPED

Post-translational modifications: 

  • Both monomethylated and dimethylated on arginine residues in the C-terminus. Arg-296 is the major site.
    Methylation is not required for nuclear localization, nor for MLL complex integrity or maintenance of global
    histone H3K4me3 levels1
  • Ubiquitination2 at Lys338
  • Modification sites at PhosphoSitePlus

  • See ASH2L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001098684.1  NP_001248761.1  NP_001269201.1  NP_004665.2  

    ENSEMBL proteins: 
     ENSP00000340896   ENSP00000428877   ENSP00000430889   ENSP00000395310   ENSP00000430259  
     ENSP00000429387   ENSP00000427839   ENSP00000250635   ENSP00000443606  
    Reactome Protein details: Q9UBL3

    ASH2L Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ASH2L
    OriGene Protein Over-expression Lysate for ASH2L
    OriGene MassSpec for ASH2L
    OriGene Custom Protein Services for ASH2L
    GenScript Custom Purified and Recombinant Proteins Services for ASH2L
    Novus Biologicals ASH2L Proteins
    Novus Biologicals ASH2L Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ASH2L

     
    Search eBioscience for Proteins for ASH2L 

     
    antibodies-online proteins for ASH2L (4 products) 

     
    antibodies-online peptides for ASH2L

    ASH2L Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ASH2L
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for ASH2L 
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for ASH2L
    Novus Biologicals ASH2L Antibodies
    Abcam antibodies for ASH2L
    Cloud-Clone Corp. Antibodies for ASH2L
    ThermoFisher Antibodies for ASH2L
    antibodies-online antibodies for ASH2L (38 products) 

    ASH2L Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ASH2L
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ASH2L
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ASH2L
    Cloud-Clone Corp. CLIAs for ASH2L
    Search eBioscience for ELISAs for ASH2L 
    antibodies-online kits for ASH2L (20 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    PHF: Zinc fingers, PHD-type

    4 InterPro protein domains:
     IPR001870 B30.2/SPRY
     IPR003877 SPRY_rcpt
     IPR018355 SPla/RYanodine_receptor_subgr
     IPR008985 ConA-like_lec_gl_sf

    Graphical View of Domain Structure for InterPro Entry Q9UBL3

    ProtoNet protein and cluster: Q9UBL3

    UniProtKB/Swiss-Prot: ASH2L_HUMAN, Q9UBL3
    Similarity: Contains 1 B30.2/SPRY domain
    Similarity: Contains 1 PHD-type zinc finger


    Find genes that share domains with ASH2L           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ASH2L_HUMAN, Q9UBL3
    Function: Component of the Set1/Ash2 histone methyltransferase (HMT) complex, a complex that specifically
    methylates 'Lys-4' of histone H3, but not if the neighboring 'Lys-9' residue is already methylated. As part of
    the MLL1/MLL complex it is involved in methylation and dimethylation at 'Lys-4' of histone H3. May function as a
    transcriptional regulator. May play a role in hematopoiesis

         Genatlas biochemistry entry for ASH2L:
    Drosophila ASH2 (absent,small or homeotic discs 2)-like,maintaining chromatin in a transcriptionally active
    information,ubiquitously expressed,predominantly in heart,testis,fetal lung,fetal liver

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IC10393421
    GO:0005515protein binding IPI12482968
    GO:0042800contributes to histone methyltransferase activity (H3-K4 specific) IDA17355966
    GO:0044212transcription regulatory region DNA binding IDA16603732
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with ASH2L           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ASH2L:
     Elongated cells 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ash2l):
     cellular  mortality/aging 

    Find genes that share phenotypes with ASH2L           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ASH2L

    miRNA
    Products:
        
    miRTarBase miRNAs that target ASH2L:
    hsa-mir-1 (MIRT001383), hsa-mir-877-3p (MIRT036952), hsa-mir-125b-2-3p (MIRT038629)

    Block miRNA regulation of human, mouse, rat ASH2L using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ASH2L (see all 9):
    hsa-miR-320a hsa-miR-206 hsa-miR-3065-3p hsa-miR-513a-5p hsa-miR-320d hsa-miR-1 hsa-miR-320b hsa-miR-9*
    SwitchGear 3'UTR luciferase reporter plasmidASH2L 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ASH2L
    Predesigned siRNA for gene silencing in human, mouse, rat ASH2L

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ASH2L

    Clone
    Products:
         
    OriGene clones in human, mouse for ASH2L (see all 12)
    OriGene ORF clones in mouse, rat for ASH2L
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ASH2L (NM_004674)
    Sino Biological Human cDNA Clone for ASH2L
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ASH2L
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASH2L
    Addgene plasmids for ASH2L 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ASH2L
    Browse ESI BIO Cell Lines and PureStem Progenitors for ASH2L 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASH2L


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    ASH2L_HUMAN, Q9UBL3: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA15199122
    GO:0035097histone methyltransferase complex IPI14992727
    GO:0048188Set1C/COMPASS complex IDA17998332
    GO:0071339MLL1 complex ----

    Find genes that share ontologies with ASH2L           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for ASH2L About    
    See pathways by source

    SuperPathContained pathways About
    1Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation


    Find genes that share SuperPaths with ASH2L           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for ASH2L
        Chromatin Regulation / Acetylation


    2 Reactome Pathways for ASH2L
        deactivation of the beta-catenin transactivating complex
    formation of the beta-catenin:TCF transactivating complex


        Pathway & Disease-focused RT2 Profiler PCR Arrays including ASH2L: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat
              Polycomb & Trithorax Complexes in human mouse rat
              Hematopoiesis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ASH2L

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ASH2L (Q9UBL31, 2, 3 ENSP000003408964) via UniProtKB, MINT, STRING, and/or I2D (see all 226)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3AP684313, ENSP000003502754I2D: score=1 STRING: ENSP00000350275
    HIST1H3BP684313I2D: score=1 
    HIST1H3CP684313I2D: score=1 
    HIST1H3DP684313I2D: score=1 
    HIST1H3EP684313I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated NAS10393421
    GO:0006355regulation of transcription, DNA-templated NAS10393421
    GO:0006366transcription from RNA polymerase II promoter TAS10393421
    GO:0006974cellular response to DNA damage stimulus IDA17500065
    GO:0008284positive regulation of cell proliferation IMP18245475

    Find genes that share ontologies with ASH2L           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ASH2L



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for ASH2L gene (4 alternative transcripts): 
    NM_001105214.2  NM_001261832.1  NM_001282272.1  NM_004674.4  

    Unigene Cluster for ASH2L:

    Ash2 (absent, small, or homeotic)-like (Drosophila)
    Hs.521530  [show with all ESTs]
    Unigene Representative Sequence: NM_001105214
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000343823(uc003xkt.4 uc011lbk.2) ENST00000517719 ENST00000517496
    ENST00000428278(uc003xku.4 uc010lwa.3) ENST00000521652 ENST00000524263
    ENST00000522675 ENST00000518186 ENST00000524247 ENST00000521808 ENST00000520079
    ENST00000250635 ENST00000545394
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ASH2L using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ASH2L (see all 9):
    hsa-miR-320a hsa-miR-206 hsa-miR-3065-3p hsa-miR-513a-5p hsa-miR-320d hsa-miR-1 hsa-miR-320b hsa-miR-9*
    SwitchGear 3'UTR luciferase reporter plasmidASH2L 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ASH2L
    Predesigned siRNA for gene silencing in human, mouse, rat ASH2L
    Clone
    Products:
         
    OriGene clones in human, mouse for ASH2L (see all 12)
    OriGene ORF clones in mouse, rat for ASH2L
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ASH2L (NM_004674)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ASH2L
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASH2L
    Addgene plasmids for ASH2L 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for ASH2L
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ASH2L
      QuantiTect SYBR Green Assays in human, mouse, rat ASH2L
      QuantiFast Probe-based Assays in human, mouse, rat ASH2L

    Additional mRNA sequence: 

    AB020982.1 AF056717.1 AF056718.1 AF075075.1 AK291750.1 AK291938.1 AK293699.1 AK298483.1 
    AK311336.1 BC015936.2 NR_049736.1 

    15 DOTS entries:

    DT.95080570  DT.100708464  DT.92437201  DT.100794868  DT.92437200  DT.100794874  DT.406647  DT.102834055 
    DT.120637352  DT.440431  DT.120637165  DT.40316376  DT.100794866  DT.100806039  DT.95231049 

    Selected AceView cDNA sequences (see all 278):

    AI919104 AI351001 AI276042 AA918731 BE503351 AI351748 AI419666 AW118998 
    AA888619 AB020982 AI400042 AW014297 AU280517 AI341297 AI867424 AW002430 
    AI350999 BU609122 BF062133 BF431484 AA838773 AW780298 AA196898 BM702877 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ASH2L (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
    SP1:              -     -     -                                         -           -                 -                                             
    SP2:                                                                    -           -                                                               
    SP3:              -     -           -                                                                                                               
    SP4:                                                                                                                                                
    SP5:                                                                    -           -                                                               


    ECgene alternative splicing isoforms for ASH2L

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    ASH2L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAACCCTGA
    ASH2L Expression
    About this image


    ASH2L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Ovary (Reproductive System)
             Oviduct
     
     Limb (Muscoskeletal System)
             Limb Bud Mesenchyme Cells Limb Bud
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Mesoderm (Gastrulation Derivatives)
             Limb Bud Mesenchyme Cells Limb Bud
    ASH2L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ASH2L Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.521530

    UniProtKB/Swiss-Prot: ASH2L_HUMAN, Q9UBL3
    Tissue specificity: Ubiquitously expressed. Predominantly expressed in adult heart and testis and fetal lung and
    liver, with barely detectable expression in adult lung, liver, kidney, prostate, and peripheral leukocytes

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ASH2L: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat
              Polycomb & Trithorax Complexes in human mouse rat
              Hematopoiesis in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for ASH2L
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ASH2L
    QuantiTect SYBR Green Assays in human, mouse, rat ASH2L
    QuantiFast Probe-based Assays in human, mouse, rat ASH2L
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASH2L

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for ASH2L gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ash2l1 , 5 ash2 (absent, small, or homeotic)-like (Drosophila)1, 5 88.34(n)1
    96.47(a)1
      8 (14.17 cM)5
    238081  NM_011791.31  NP_035921.21 
     258161915 
    chicken
    (Gallus gallus)
    Aves ASH2L1 ash2 (absent, small, or homeotic)-like (Drosophila) 79.48(n)
    92.17(a)
      426774  NM_001031395.1  NP_001026566.1 
    lizard
    (Anolis carolinensis)
    Reptilia ASH2L6
    ash2 (absent, small, or homeotic)-like (Drosophila...
    86(a)
    1 ↔ 1
    GL343406.1(654470-670157)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.335642 Xenopus laevis transcribed sequence with moderate similarity more 80.34(n)    BX847929.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi20h022 wufi20h02 76.13(n)   327631  CK236564.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ash21 , 3 positive regulation of transcription by
    homeotic more3
    absent, small, or homeotic discs 21
    46(a)3
    53.18(n)1
    50.28(a)1
      3 96A133
    429361  NM_176558.21  NP_788735.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y17G7B.2b3
    ash-21
    ash-21 35(a)
    (best of 2)3
    47.75(n)1
    39.03(a)1
      II(11980375-11988350)3
    1748381  NM_064152.31  NP_496553.11 


    ENSEMBL Gene Tree for ASH2L (if available)
    TreeFam Gene Tree for ASH2L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for ASH2L gene

    Find genes that share paralogs with ASH2L           About GenesLikeMe


    5 Pseudogenes.org Pseudogenes for ASH2L
    PGOHUM00000246456 PGOHUM00000246461 PGOHUM00000246470 PGOHUM00000246473 PGOHUM00000235688


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for ASH2L (see all 781)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1822983301,2
    --37961211(+) TGGGCG/TTGGTG 2 -- us2k10--------
    rs1393198331,2
    C--37961511(+) AGTGAA/GCTGAG 4 -- us2k10--------
    rs1146661721,2
    F--37961718(+) CGGGCG/ATGGTG 4 -- us2k11Minor allele frequency- A:0.06WA 118
    rs1440747731,2
    C--37961819(+) CACTGC/TGCTCC 4 -- us2k10--------
    rs789278061,2
    C,F--37961946(+) ATCAAG/TCATCC 4 -- us2k11Minor allele frequency- T:0.29EA 120
    rs764721011,2
    F--37962130(+) CTACAC/TTATCG 4 -- us2k11Minor allele frequency- T:0.03WA 118
    rs748830291,2
    F--37962252(+) AACACT/CGGTGT 4 -- us2k11Minor allele frequency- C:0.01EA 120
    rs1116297001,2
    C,F--37962268(+) AAACGT/ATCCTG 4 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs798698201,2
    C--37962287(+) ACTCTC/TAGAGG 4 -- us2k12Minor allele frequency- T:0.08CSA WA 120
    rs119965681,2
    C,H--37962404(+) cacacC/Ttcttc 4 -- us2k1 trp34Minor allele frequency- T:0.00NS EA 420

    HapMap Linkage Disequilibrium report for ASH2L (37962760 - 38001594 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ASH2L: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ASH2L
    DNA2.0 Custom Variant and Variant Library Synthesis for ASH2L

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 604782    OMIM disorders: --


    Find genes that share disorders with ASH2L           About GenesLikeMe

    Genetic Association Database (GAD): ASH2L

    Export disorders for ASH2L gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for ASH2L gene, integrated from 10 sources (see all 80):
    (articles sorted by number of sources associating them with ASH2L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of ASH2L and ash2l, human and mouse homologs of the Drosophila ash2 gene. (PubMed id 10393421)1, 2, 3, 9 Ikegawa S.... Nakamura Y. (Cytogenet. Cell Genet. 1999)
    2. ASH2L: alternative splicing and downregulation during induced megakaryocytic differentiation of multipotential leukemia cell lines. (PubMed id 11466562)1, 2, 9 Wang J....Qiang B. (J. Mol. Med. 2001)
    3. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. (PubMed id 22267201)1, 4 Stolk L....Lunetta K.L. (Nat. Genet. 2012)
    4. Crystal structure of the N-terminal region of human Ash2L shows a winged-helix motif involved in DNA binding. (PubMed id 21660059)1, 2 Chen Y.... Lei M. (EMBO Rep. 2011)
    5. Protein-arginine methyltransferase 1 (PRMT1) methylates Ash2L, a shared component of mammalian histone H3K4 methyltransferase complexes. (PubMed id 21285357)1, 2 Butler J.S.... Dent S.Y. (J. Biol. Chem. 2011)
    6. On the mechanism of multiple lysine methylation by the human mixed lineage leukemia protein-1 (MLL1) core complex. (PubMed id 19556245)1, 2 Patel A.... Cosgrove M.S. (J. Biol. Chem. 2009)
    7. 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. (PubMed id 17998332)1, 2 Lee J.H. and Skalnik D.G. (Mol. Cell. Biol. 2008)
    8. Molecular regulation of H3K4 trimethylation by Wdr82, a component of human Set1/COMPASS. (PubMed id 18838538)1, 2 Wu M....Shilatifard A. (Mol. Cell. Biol. 2008)
    9. Identification and characterization of the human Set1B histone H3- Lys4 methyltransferase complex. (PubMed id 17355966)1, 2 Lee J.-H.... Skalnik D.G. (J. Biol. Chem. 2007)
    10. PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex. (PubMed id 17500065)1, 2 Cho Y.-W.... Ge K. (J. Biol. Chem. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 9070 HGNC: 744 AceView: ASH2L Ensembl:ENSG00000129691 euGenes: HUgn9070
    ECgene: ASH2L H-InvDB: ASH2L

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for ASH2L Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ASH2L Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for ASH2L gene:
    Search GeneIP for patents involving ASH2L

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     Browse Small Molecules at EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of ASH2L
     Browse Kits and Assays available from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for ASH2L  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for ASH2L  
     OriGene MassSpec for ASH2L   OriGene clones in human, mouse for ASH2L  
     OriGene qSTAR qPCR primer pairs in human, mouse for ASH2L   OriGene Purified Protein for ASH2L  
     OriGene ORF clones in mouse, rat for ASH2L   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ASH2L   OriGene Custom Protein Services for ASH2L  

     
     
     Block miRNA regulation of human, mouse, rat ASH2L using miScript Target Protectors SeqTarget long-range PCR primers for resequencing ASH2L
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ASH2L Predesigned siRNA for gene silencing in human, mouse, rat ASH2L
     QuantiFast Probe-based Assays in human, mouse, rat ASH2L QuantiTect SYBR Green Assays in human, mouse, rat ASH2L
     PCR Arrays including human, mouse, rat ASH2L Search Chromatin IP Primers for ASH2L
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ASH2L  GeneGlobe Interaction Network for ASH2L
     Regulatory tfbs in ASH2L promoter
     GenScript Custom Purified and Recombinant Proteins Services for ASH2L GenScript cDNA clones with any tag delivered in your preferred vector for ASH2L
     GenScript Custom Assay Services for ASH2L GenScript Custom overexpressing Cell Line Services for ASH2L
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Antibodies & Assays for ASH2L 

     Search Tocris compounds for ASH2L
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for ASH2L
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     ASH2L antibodies
     ASH2L proteins
     ASH2L lysates
     Antibodies for ASH2L
     See all of Abcam's Antibodies, Kits and Proteins for ASH2L
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for ASH2L
     Antibodies for ASH2L
     ELISAs for ASH2L
     CLIAs for ASH2L



     Browse ESI BIO Cell Lines and PureStem Progenitors for ASH2L
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASH2L
     SwitchGear 3'UTR luciferase reporter plasmids for ASH2L
     SwitchGear Promoter luciferase reporter plasmids for ASH2L
     ThermoFisher Antibodies for ASH2L
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASH2L
     Browse compounds at ApexBio
     Addgene plasmids for ASH2L
      Search eBioscience for proteins for ASH2L
      Search eBioscience for elisas for ASH2L
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for ASH2L
     antibodies-online antibodies for ASH2L (38 products)
     antibodies-online kits for ASH2L (20 products)
     antibodies-online peptides for ASH2L
     antibodies-online proteins for ASH2L (4 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ASH2L gene at Home site.
    Version: 3.12.250 16 Nov 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4