Aliases for ASH2L Gene

Aliases for ASH2L Gene

  • ASH2 Like, Histone Lysine Methyltransferase Complex Subunit 2 3 5
  • Set1/Ash2 Histone Methyltransferase Complex Subunit ASH2 3 4
  • ASH2-Like Protein 3 4
  • ASH2L1 3 4
  • ASH2L2 2 3
  • ASH2 2 3
  • Bre2 2 3
  • ASH2 Like Histone Lysine Methyltransferase Complex Subunit 2
  • Ash2 (Absent, Small, Or Homeotic)-Like (Drosophila) 2
  • Ash2 (Absent, Small, Or Homeotic)-Like 3
  • ASH2L 5

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 Like, Histone Lysine Methyltransferase Complex Subunit) is a Protein Coding gene. Diseases associated with ASH2L include Alacrima, Achalasia, And Mental Retardation Syndrome and Disease Of Mental Health. Among its related pathways are Signaling by GPCR and Chromatin Regulation / Acetylation. Gene Ontology (GO) annotations related to this gene include transcription regulatory region DNA binding and histone methyltransferase activity (H3-K4 specific).

UniProtKB/Swiss-Prot Summary for ASH2L Gene

  • Transcriptional regulator (PubMed:12670868). Component or associated component of some histone methyltransferase complexes which regulates transcription through recruitment of those complexes to gene promoters (PubMed:19131338). 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 (PubMed:19556245). As part of the MLL1/MLL complex it is involved in methylation and dimethylation at 'Lys-4' of histone H3 (PubMed:19556245). May play a role in hematopoiesis (PubMed:12670868). In association with RBBP5 and WDR5, stimulates the histone methyltransferase activities of KMT2A, KMT2B, KMT2C, KMT2D, SETD1A and SETD1B (PubMed:21220120, PubMed:22266653).

Gene Wiki entry for ASH2L Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ASH2L Gene

Genomics for ASH2L Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ASH2L Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASH2L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ASH2L

Top Transcription factor binding sites by QIAGEN in the ASH2L gene promoter:
  • c-Ets-1
  • Elk-1
  • HTF
  • p300
  • XBP-1

Genomic Locations for ASH2L Gene

Latest Assembly
chr8:38,104,965-38,144,076
(GRCh38/hg38)
Size:
39,112 bases
Orientation:
Plus strand

Previous Assembly
chr8:37,963,011-37,997,598
(GRCh37/hg19 by Entrez Gene)
Size:
34,588 bases
Orientation:
Plus strand

chr8:37,962,760-38,001,594
(GRCh37/hg19 by Ensembl)
Size:
38,835 bases
Orientation:
Plus strand

Genomic View for ASH2L Gene

Genes around ASH2L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASH2L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (PubMed:12670868). Core component of several methyltransferase-containing complexes including MLL1/MLL, MLL2/3 (also named ASCOM complex) and MLL4/WBP7 (PubMed:15199122, PubMed:15960975, PubMed:17500065). 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 (PubMed:14992727, PubMed:15199122, PubMed:15960975, PubMed:17500065). 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 (PubMed:16253997, PubMed:17355966, PubMed:17998332, PubMed:18838538). Found in a complex with RBBP5, ASH2L, DPY30, KMT2A, KMT2D and WDR5 (By similarity). Component of a histone methylation complex composed of at least ZNF335, RBBP5, ASH2L and WDR5; the complex may have histone H3-specific methyltransferase activity, however does not have specificity for 'Lys-4' of histone H3 (PubMed:19131338). Within the complex, interacts with ZNF335 (PubMed:19131338). Interacts with RBBP5 (PubMed:19131338, PubMed:19556245, PubMed:21220120). Components of this complex may associate with components of a nuclear receptor-mediated transcription complex to form a complex at least composed of ZNF335, HCFC1, CCAR2, EMSY, MKI67, RBBP5, ASH2L and WDR5 (PubMed:19131338). Within this complex also interacts with CCAR2 and EMSY (PubMed:19131338). Interacts with DPY30 (PubMed:19556245). Interacts with SETD1A and SETD1B (PubMed:17998332).

    Three dimensional structures from OCA and Proteopedia for ASH2L Gene

    Alternative splice isoforms for ASH2L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASH2L Gene

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

No data available for DME Specific Peptides for ASH2L Gene

Domains & Families for ASH2L Gene

Gene Families for ASH2L Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ASH2L Gene

Suggested Antigen Peptide Sequences for ASH2L Gene

GenScript: Design optimal peptide antigens:
  • ASH2-like protein (ASH2L_HUMAN)
genes like me logo Genes that share domains with ASH2L: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ASH2L Gene

Function for ASH2L Gene

Molecular function for ASH2L Gene

UniProtKB/Swiss-Prot Function:
Transcriptional regulator (PubMed:12670868). Component or associated component of some histone methyltransferase complexes which regulates transcription through recruitment of those complexes to gene promoters (PubMed:19131338). 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 (PubMed:19556245). As part of the MLL1/MLL complex it is involved in methylation and dimethylation at 'Lys-4' of histone H3 (PubMed:19556245). May play a role in hematopoiesis (PubMed:12670868). In association with RBBP5 and WDR5, stimulates the histone methyltransferase activities of KMT2A, KMT2B, KMT2C, KMT2D, SETD1A and SETD1B (PubMed:21220120, PubMed:22266653).
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

Phenotypes From GWAS Catalog for ASH2L Gene

Gene Ontology (GO) - Molecular Function for ASH2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA 16603732
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IEA,IPI 12482968
GO:0008013 beta-catenin binding IDA 22723415
GO:0042800 contributes_to histone methyltransferase activity (H3-K4 specific) IDA 17355966
genes like me logo Genes that share ontologies with ASH2L: view
genes like me logo Genes that share phenotypes with ASH2L: view

Animal Models for ASH2L Gene

MGI Knock Outs for ASH2L:
  • Ash2l Ash2l<tm1b(EUCOMM)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASH2L

Clone products for research

  • Addgene plasmids for ASH2L

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ASH2L Gene

Localization for ASH2L Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASH2L Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASH2L gene
Compartment Confidence
nucleus 5
plasma membrane 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ASH2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IMP 22723415
GO:0005654 nucleoplasm TAS --
GO:0035097 histone methyltransferase complex IPI 14992727
GO:0044666 MLL3/4 complex IDA 17500065
GO:0048188 Set1C/COMPASS complex IEA,IDA 17998332
genes like me logo Genes that share ontologies with ASH2L: view

Pathways & Interactions for ASH2L Gene

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

SIGNOR curated interactions for ASH2L Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for ASH2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0006974 cellular response to DNA damage stimulus IDA 17500065
GO:0008284 positive regulation of cell proliferation IMP 18245475
GO:0030097 hemopoiesis NAS 11466562
GO:0043627 response to estrogen IDA 16603732
genes like me logo Genes that share ontologies with ASH2L: view

Drugs & Compounds for ASH2L Gene

No Compound Related Data Available

Transcripts for ASH2L Gene

mRNA/cDNA for ASH2L Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASH2L

Clone products for research

  • Addgene plasmids for ASH2L

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

Expression for ASH2L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ASH2L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ASH2L Gene

This gene is overexpressed in Lymph node (15.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ASH2L Gene



Protein tissue co-expression partners for ASH2L Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ASH2L

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.

Evidence on tissue expression from TISSUES for ASH2L Gene

  • Nervous system(4.9)
  • Skin(4.5)
  • Kidney(2.9)
  • Muscle(2.4)
  • Blood(2.4)
  • Intestine(2.1)
  • Liver(2.1)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with ASH2L: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 99.73 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ASH2L 31
  • 95 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ASH2L 31
  • 93 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ASH2L 30 31
  • 91.45 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ASH2L 30 31
  • 90.02 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ash2l 30
  • 88.76 (n)
Mouse
(Mus musculus)
Mammalia Ash2l 30 17 31
  • 88.34 (n)
OneToOne
Chicken
(Gallus gallus)
Aves ASH2L 30 31
  • 79.48 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ASH2L 31
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ash2l 30
  • 75.11 (n)
Str.8406 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.33564 30
Zebrafish
(Danio rerio)
Actinopterygii ash2l 30 31
  • 73.57 (n)
OneToOne
wufi20h02 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003705 30
  • 54.69 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta ash2 30 31 32
  • 53.18 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea ash-2 30 31
  • 47.75 (n)
OneToOne
Y17G7B.2a 32
  • 35 (a)
Y17G7B.2b 32
  • 35 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 58 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ash2 30
  • 43.17 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.12291 30
Species where no ortholog for ASH2L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for ASH2L: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ASH2L Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs1060499744 Likely Pathogenic: Intellectual disability; Global developmental delay 38,138,822(+) A/G
NM_004674.5(ASH2L):c.1726A>G (p.Ile576Val)
MISSENSE
rs34167006 - p.Ser478Phe

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ASH2L Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ASH2L Gene

Variant ID Type Subtype PubMed ID
esv3616917 CNV gain 21293372
esv3616918 CNV gain 21293372

Variation tolerance for ASH2L Gene

Residual Variation Intolerance Score: 31.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.25; 40.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASH2L Gene

Human Gene Mutation Database (HGMD)
ASH2L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASH2L

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASH2L Gene

Disorders for ASH2L Gene

MalaCards: The human disease database

(4) MalaCards diseases for ASH2L Gene - From: CVR and COP

Disorder Aliases PubMed IDs
alacrima, achalasia, and mental retardation syndrome
  • aamr
disease of mental health
  • mental health
kleefstra syndrome
  • 9q subtelomeric deletion syndrome
kabuki syndrome 1
  • kabuk1
- elite association - COSMIC cancer census association via MalaCards
Search ASH2L in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ASH2L

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ASH2L: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 (Cytogenetics and cell genetics 1999) 2 3 4 23
  2. Crystal structure of the N-terminal region of human Ash2L shows a winged-helix motif involved in DNA binding. (PMID: 21660059) Chen Y … Lei M (EMBO reports 2011) 2 3 4
  3. Identification and characterization of a novel nuclear protein complex involved in nuclear hormone receptor-mediated gene regulation. (PMID: 19131338) Garapaty S … Samuels HH (The Journal of biological chemistry 2009) 3 4 23
  4. ASH2L: alternative splicing and downregulation during induced megakaryocytic differentiation of multipotential leukemia cell lines. (PMID: 11466562) Wang J … Qiang B (Journal of molecular medicine (Berlin, Germany) 2001) 3 4 23
  5. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. (PMID: 22267201) Stolk L … Lunetta KL (Nature genetics 2012) 3 41

Products for ASH2L Gene

Sources for ASH2L Gene