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Aliases for ASH2L Gene

Aliases for ASH2L Gene

  • Ash2 (Absent, Small, Or Homeotic)-Like (Drosophila) 2 3
  • ASH2L1 3 4 6
  • ASH2-Like Protein 3 4
  • ASH2L2 3 6
  • Ash2 (Absent, Small, Or Homeotic, Drosophila, Homolog)-Like 2
  • Set1/Ash2 Histone Methyltransferase Complex Subunit ASH2 3
  • ASH2 3
  • Bre2 3

External Ids for ASH2L Gene

Previous HGNC Symbols for ASH2L Gene

  • ASH2L1

Previous GeneCards Identifiers for ASH2L Gene

  • GC08M037436
  • GC08P038091
  • GC08P037704
  • GC08P037980
  • GC08P038082
  • GC08P037963
  • GC08P036498

Summaries for ASH2L Gene

GeneCards Summary for ASH2L Gene

ASH2L (Ash2 (Absent, Small, Or Homeotic)-Like (Drosophila)) is a Protein Coding gene. Among its related pathways are Chromatin Regulation / Acetylation. GO annotations related to this gene include transcription regulatory region DNA binding and histone methyltransferase activity (H3-K4 specific).

UniProtKB/Swiss-Prot for ASH2L Gene

  • 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

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASH2L Gene

Genomics for ASH2L Gene

Regulatory Elements for ASH2L Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ASH2L Gene

Start:
38,104,965 bp from pter
End:
38,144,076 bp from pter
Size:
39,112 bases
Orientation:
Plus strand

Genomic View for ASH2L Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ASH2L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASH2L Gene

Proteins for ASH2L Gene

  • Protein details for ASH2L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBL3-ASH2L_HUMAN
    Recommended name:
    Set1/Ash2 histone methyltransferase complex subunit ASH2
    Protein Accession:
    Q9UBL3
    Secondary Accessions:
    • A8K7C3
    • D3DSW9
    • O60659
    • O60660
    • Q96B62

    Protein attributes for ASH2L Gene

    Size:
    628 amino acids
    Molecular mass:
    68723 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for ASH2L Gene

    Alternative splice isoforms for ASH2L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASH2L Gene

Proteomics data for ASH2L Gene at MOPED

Post-translational modifications for ASH2L Gene

  • 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 levels.
  • Ubiquitination at Lys338
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ASH2L (ASH2L)

No data available for DME Specific Peptides for ASH2L Gene

Domains for ASH2L Gene

Gene Families for ASH2L Gene

HGNC:
  • PHF :Zinc fingers, PHD-type

Protein Domains for ASH2L Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ASH2L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UBL3

UniProtKB/Swiss-Prot:

ASH2L_HUMAN :
  • Q9UBL3
Domain:
  • Contains 1 B30.2/SPRY domain.
Similarity:
  • Contains 1 PHD-type zinc finger.
genes like me logo Genes that share domains with ASH2L: view

Function for ASH2L Gene

Molecular function for ASH2L Gene

GENATLAS Biochemistry: 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
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for ASH2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IC 10393421
GO:0005515 protein binding IPI 12482968
GO:0042800 contributes_to histone methyltransferase activity (H3-K4 specific) IDA 17355966
GO:0044212 transcription regulatory region DNA binding IDA 16603732
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ASH2L: view

Phenotypes for ASH2L Gene

MGI mutant phenotypes for ASH2L:
inferred from 1 alleles
GenomeRNAi human phenotypes for ASH2L:
genes like me logo Genes that share phenotypes with ASH2L: view

Animal Model Products

CRISPR Products

miRNA for ASH2L Gene

miRTarBase miRNAs that target ASH2L

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for ASH2L Gene

Localization for ASH2L Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASH2L Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ASH2L Gene COMPARTMENTS Subcellular localization image for ASH2L gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ASH2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IMP 22723415
GO:0005654 nucleoplasm TAS --
GO:0035097 histone methyltransferase complex IPI 14992727
GO:0048188 Set1C/COMPASS complex IDA 17998332
genes like me logo Genes that share ontologies with ASH2L: view

Pathways for ASH2L Gene

genes like me logo Genes that share pathways with ASH2L: view

Pathways by source for ASH2L Gene

1 Cell Signaling Technology pathway for ASH2L Gene

PCR Array Products

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

Gene Ontology (GO) - Biological Process for ASH2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization TAS --
GO:0006351 transcription, DNA-templated NAS 10393421
GO:0006355 regulation of transcription, DNA-templated NAS 10393421
GO:0006366 transcription from RNA polymerase II promoter TAS 10393421
GO:0006974 cellular response to DNA damage stimulus IDA 17500065
genes like me logo Genes that share ontologies with ASH2L: view

Transcripts for ASH2L Gene

Unigene Clusters for ASH2L Gene

Ash2 (absent, small, or homeotic)-like (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ASH2L

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ASH2L

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASH2L Gene

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: - -
SP6:

Relevant External Links for ASH2L Gene

GeneLoc Exon Structure for
ASH2L
ECgene alternative splicing isoforms for
ASH2L

Expression for ASH2L Gene

mRNA expression in normal human tissues for ASH2L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ASH2L Gene

SOURCE GeneReport for Unigene cluster for ASH2L Gene Hs.521530

mRNA Expression by UniProt/SwissProt for ASH2L Gene

Q9UBL3-ASH2L_HUMAN
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.
genes like me logo Genes that share expressions with ASH2L: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for ASH2L Gene

Orthologs for ASH2L Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ASH2L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASH2L 35
  • 99.73 (n)
  • 99.68 (a)
ASH2L 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ASH2L 35
  • 90.02 (n)
  • 96.5 (a)
ASH2L 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ASH2L 35
  • 91.45 (n)
  • 96.34 (a)
ASH2L 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ash2l 35
  • 88.34 (n)
  • 96.47 (a)
Ash2l 16
Ash2l 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ASH2L 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASH2L 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ash2l 35
  • 88.76 (n)
  • 95.83 (a)
chicken
(Gallus gallus)
Aves ASH2L 35
  • 79.48 (n)
  • 92.17 (a)
ASH2L 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASH2L 36
  • 86 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.33564 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ash2l 35
  • 75.11 (n)
  • 85.34 (a)
Str.8406 35
zebrafish
(Danio rerio)
Actinopterygii ash2l 35
  • 73.57 (n)
  • 83.89 (a)
ash2l 36
  • 81 (a)
OneToOne
wufi20h02 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003705 35
  • 54.69 (n)
  • 50.82 (a)
fruit fly
(Drosophila melanogaster)
Insecta ash2 35
  • 53.18 (n)
  • 50.28 (a)
ash2 36
  • 48 (a)
OneToOne
ash2 37
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea ash-2 35
  • 47.75 (n)
  • 39.03 (a)
ash-2 36
  • 33 (a)
OneToOne
Y17G7B.2b 37
  • 35 (a)
Y17G7B.2a 37
  • 35 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ash2 35
  • 43.17 (n)
  • 30.33 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12291 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
OneToOne
Species with no ortholog for ASH2L:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ASH2L Gene

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

Paralogs for ASH2L Gene

genes like me logo Genes that share paralogs with ASH2L: view

No data available for Paralogs for ASH2L Gene

Variants for ASH2L Gene

Sequence variations from dbSNP and Humsavar for ASH2L Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs1043584 -- 38,114,242(+) AGACA(C/G)AGACC missense, reference
rs1111460 -- 38,116,976(-) AATCT(C/G)ACCTT intron-variant
rs1127331 -- 38,114,256(+) GAAAA(C/T)GACTT missense, reference
rs2070346 -- 38,116,334(-) GGCTG(C/G)AGTGC intron-variant
rs2073351 -- 38,105,721(-) TCCCC(A/G)GAACT upstream-variant-2KB, utr-variant-5-prime, reference, synonymous-codon

Relevant External Links for ASH2L Gene

HapMap Linkage Disequilibrium report
ASH2L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ASH2L Gene

Disorders for ASH2L Gene

Relevant External Links for ASH2L

Genetic Association Database (GAD)
ASH2L
genes like me logo Genes that share disorders with ASH2L: view

No data available for UniProtKB/Swiss-Prot for ASH2L Gene

Publications for ASH2L Gene

  1. Cloning and characterization of ASH2L and ash2l, human and mouse homologs of the Drosophila ash2 gene. (PMID: 10393421) Ikegawa S. … Nakamura Y. (Cytogenet. Cell Genet. 1999) 2 3 4 23
  2. ASH2L: alternative splicing and downregulation during induced megakaryocytic differentiation of multipotential leukemia cell lines. (PMID: 11466562) Wang J. … Qiang B. (J. Mol. Med. 2001) 3 4 23
  3. Identification and characterization of a novel nuclear protein complex involved in nuclear hormone receptor-mediated gene regulation. (PMID: 19131338) Garapaty S. … Samuels H.H. (J. Biol. Chem. 2009) 3 23
  4. Human Sin3 deacetylase and trithorax-related Set1/Ash2 histone H3-K4 methyltransferase are tethered together selectively by the cell- proliferation factor HCF-1. (PMID: 12670868) Wysocka J. … Herr W. (Genes Dev. 2003) 3 4
  5. Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus. (PMID: 14992727) Hughes C.M. … Meyerson M. (Mol. Cell 2004) 3 4

Products for ASH2L Gene

  • Addgene plasmids for ASH2L

Sources for ASH2L Gene

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