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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ASH2L Gene

protein-coding   GIFtS: 58
GCID: GC08P037963

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

(Previous names: ash2 (absent, small, or homeotic, Drosophila, homolog)-like)
(Previous symbol: ASH2L1)
  See related diseases
at  

(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

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

GeneCards Summary for ASH2L Gene: 
ASH2L (ash2 (absent, small, or homeotic)-like (Drosophila)) is a protein-coding gene. Diseases associated with ASH2L include hepatocellular carcinoma, and leukemia. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_167187.1  NC_018919.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ASH2L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Nucleus (Probable)
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:

  • UniProtKB: 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 Maintainance of global
    histone H3K4me3 levels
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UBL3

  • ASH2L Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ASH2L Protein Expression
    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  

    Human Recombinant Protein Products for ASH2L: 
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    Cloud-Clone Corp. Proteins for ASH2L 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    ASH2L for ontologies           About GeneDecksing



    ASH2L Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for ASH2L 

    Assay Products for ASH2L: 
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ASH2L 
    Cloud-Clone Corp. CLIAs for ASH2L


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


    ASH2L for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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--
         
    ASH2L for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ASH2L:
     Elongated cells 

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

    ASH2L for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ASH2L 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ASH2L

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ASH2L 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ASH2L 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ASH2L
    8/9 QIAGEN miScript miRNA 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
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                         Customized lentivirus expression plasmids for stable overexpression of ASH2L 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASH2L


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ASH2L About                                                                                                See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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




    ASH2L for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ASH2L

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

    5/100 Interacting proteins for ASH2L (Q9UBL31, 2, 3 ENSP000003408964) via UniProtKB, MINT, STRING, and/or I2D (see all 100)
    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): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

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

    ASH2L for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ASH2L

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
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    SwitchGear 3'UTR luciferase reporter plasmidASH2L 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASH2L
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      QIAGEN 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 

    24/278 AceView cDNA sequences (see all 278):

    AI459792 BG257270 AA196898 BF062133 AI086044 BM919979 AA258383 BE502413 
    AL699334 AW014297 BF062032 AI341297 BP370787 BU609122 BM766528 BM702877 
    AI041575 AI888458 CD742704 BF109196 BX108951 AI653005 AA366653 CA405586 

    GeneLoc Exon Structure

    5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ASH2L expression in normal human tissues (normalized intensities)      ASH2L embryonic expression: see
    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 
     5/18 selected tissues (see all 18) fully expand
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             colon ; peripheral nerve/ganglion   
     
     Tooth (Integumentary System)    fully expand to see all 2 entries
             visceral organ/oral region/upper jaw   
     
     Peripheral Nervous System (Nervous System)
             colon ; peripheral nerve/ganglion   
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Mesoderm (Gastrulation Derivatives)
             Limb Bud Mesenchyme Cells Limb Bud

    See ASH2L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ASH2L

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including ASH2L: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat
              Polycomb & Trithorax Complexes in human mouse rat
              Hematopoiesis in human mouse rat

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    In Situ
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    (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

    This gene was present in the common ancestor of animals.

    Orthologs for ASH2L gene from 7/17 species (see all 17)    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
    96.63(a)1
      8 (14.17 cM)5
    238081  NM_011791.21  NP_035921.21 
     258161915 
    chicken
    (Gallus gallus)
    Aves ASH2L1 ash2 (absent, small, or homeotic)-like (Drosophila) 78.7(n)
    91.06(a)
      426774  NM_001031395.1  NP_001026566.1 
    lizard
    (Anolis carolinensis)
    Reptilia ASH2L6
    Uncharacterized protein
    84(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
    Protein ASH-21 35(a)
    (best of 2)3
    47.43(n)1
    39.23(a)1
      II(11980375-11988350)3
    1748381  NM_064152.21  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
    Paralogs for ASH2L gene

    ASH2L for paralogs           About GeneDecksing


    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/781 SNPs in ASH2L are shown (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: --
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604782    OMIM disorders: --

    4 diseases for ASH2L:    About MalaCards
    hepatocellular carcinoma    leukemia    breast cancer    prostatitis


    ASH2L for disorders           About GeneDecksing

    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

    PubMed articles for ASH2L gene, integrated from 9 sources (see all 79):
    (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. (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. (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. (2012)
    4. Crystal structure of the N-terminal region of human A sh2L shows a winged-helix motif involved in DNA binding. (PubMed id 21660059)1, 2 Chen Y....Lei M. (2011)
    5. Protein-arginine methyltransferase 1 (PRMT1) methylat es Ash2L, a shared component of mammalian histone H3K4 methyltransferase comple xes. (PubMed id 21285357)1, 2 Butler J.S....Dent S.Y. (2011)
    6. On the mechanism of multiple lysine methylation by th e human mixed lineage leukemia protein-1 (MLL1) core complex. (PubMed id 19556245)1, 2 Patel A....Cosgrove M.S. (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. (2008)
    8. Molecular regulation of H3K4 trimethylation by Wdr82, a component of human Set1/COMPASS. (PubMed id 18838538)1, 2 Wu M....Shilatifard A. (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. (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. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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      Query String
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    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
    Entrez Gene: 9070 HGNC: 744 AceView: ASH2L Ensembl:ENSG00000129691 euGenes: HUgn9070
    ECgene: ASH2L H-InvDB: ASH2L

    (According to HUGE)
    About This Section
      --

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



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    About This Section

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