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    ASH2L ASH2 like, histone lysine methyltransferase complex subunit [ Homo sapiens (human) ]

    Gene ID: 9070, updated on 5-Jan-2020

    Summary

    Official Symbol
    ASH2Lprovided by HGNC
    Official Full Name
    ASH2 like, histone lysine methyltransferase complex subunitprovided by HGNC
    Primary source
    HGNC:HGNC:744
    See related
    Ensembl:ENSG00000129691 MIM:604782
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ASH2; Bre2; ASH2L1; ASH2L2
    Expression
    Ubiquitous expression in testis (RPKM 20.9), fat (RPKM 13.3) and 25 other tissues See more
    Orthologs

    Genomic context

    See ASH2L in Genome Data Viewer
    Location:
    8p11.23
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109.20191205 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (38104965..38140080)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (37962483..37997598)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 54 Neighboring gene eukaryotic translation initiation factor 4E binding protein 1 Neighboring gene CRISPRi-validated cis-regulatory element chr8.1253 Neighboring gene RNA, U6 small nuclear 988, pseudogene Neighboring gene STAR 5' regulatory region Neighboring gene uncharacterized LOC105379382 Neighboring gene steroidogenic acute regulatory protein Neighboring gene LSM1 homolog, mRNA degradation associated

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of early menopause and the combined impact of identified variants.
    NHGRI GWA Catalog
    Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
    NHGRI GWA Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    beta-catenin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    euchromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to histone methyltransferase activity (H3-K4 specific) IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to histone methyltransferase activity (H3-K4 specific) IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription regulatory region DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    beta-catenin-TCF complex assembly TAS
    Traceable Author Statement
    more info
     
    cellular response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hemopoiesis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    histone H3-K4 methylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    histone H3-K4 methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of megakaryocyte differentiation TAS
    Traceable Author Statement
    more info
     
    regulation of transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    response to estrogen IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    MLL1 complex IEA
    Inferred from Electronic Annotation
    more info
     
    MLL3/4 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Set1C/COMPASS complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Set1C/COMPASS complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone methyltransferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone methyltransferase complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    nuclear euchromatin IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    set1/Ash2 histone methyltransferase complex subunit ASH2
    Names
    ASH2-like protein
    ash2 (absent, small, or homeotic)-like

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001105214.2NP_001098684.1  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform b

      See identical proteins and their annotated locations for NP_001098684.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AC084024, BC015936, DA156139
      Consensus CDS
      CCDS47840.1
      UniProtKB/Swiss-Prot
      Q9UBL3
      Related
      ENSP00000395310.2, ENST00000428278.6
      Conserved Domains (2) summary
      cd15583
      Location:756
      PHD_ash2p_like; PHD finger found in Schizosaccharomyces pombe Set1 complex component ash2 (spAsh2p) and similar proteins
      cd12872
      Location:298489
      SPRY_Ash2; SPRY domain in Ash2
    2. NM_001261832.1NP_001248761.1  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform c

      See identical proteins and their annotated locations for NP_001248761.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, initiates translation at a downstream, in-frame start codon and lacks an exon in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AC084024, AF056717, DA156139
      Consensus CDS
      CCDS59100.1
      UniProtKB/Swiss-Prot
      Q9UBL3
      Related
      ENSP00000430259.1, ENST00000521652.5
      Conserved Domains (2) summary
      cd15583
      Location:756
      PHD_ash2p_like; PHD finger found in Schizosaccharomyces pombe Set1 complex component ash2 (spAsh2p) and similar proteins
      cd12872
      Location:298400
      SPRY_Ash2; SPRY domain in Ash2
    3. NM_001282272.1NP_001269201.1  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform d

      See identical proteins and their annotated locations for NP_001269201.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (d) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AC084024, AK298483, DC353644
      Consensus CDS
      CCDS64872.1
      UniProtKB/TrEMBL
      B4DPT1, F5H8F7
      Related
      ENSP00000443606.1, ENST00000545394.2
      Conserved Domains (1) summary
      cd12872
      Location:253444
      SPRY_Ash2; SPRY domain in Ash2
    4. NM_004674.5NP_004665.2  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform a

      See identical proteins and their annotated locations for NP_004665.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AB020982, AC084024, DC353644
      Consensus CDS
      CCDS6101.1
      UniProtKB/Swiss-Prot
      Q9UBL3
      Related
      ENSP00000340896.5, ENST00000343823.11
      Conserved Domains (2) summary
      cd15583
      Location:101150
      PHD_ash2p_like; PHD finger found in Schizosaccharomyces pombe Set1 complex component ash2 (spAsh2p) and similar proteins
      cd12872
      Location:392583
      SPRY_Ash2; SPRY domain in Ash2

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      38104965..38140080
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005273682.1XP_005273739.1  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform X1

      Conserved Domains (2) summary
      cd15583
      Location:101150
      PHD_ash2p_like; PHD finger found in Schizosaccharomyces pombe Set1 complex component ash2 (spAsh2p) and similar proteins
      cd12872
      Location:398589
      SPRY_Ash2; SPRY domain in Ash2
    2. XM_006716412.1XP_006716475.1  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform X2

      Conserved Domains (2) summary
      cd15583
      Location:101150
      PHD_ash2p_like; PHD finger found in Schizosaccharomyces pombe Set1 complex component ash2 (spAsh2p) and similar proteins
      cd12872
      Location:398500
      SPRY_Ash2; SPRY domain in Ash2
    3. XM_006716413.3XP_006716476.1  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform X3

      Conserved Domains (2) summary
      cd15583
      Location:101150
      PHD_ash2p_like; PHD finger found in Schizosaccharomyces pombe Set1 complex component ash2 (spAsh2p) and similar proteins
      cd12872
      Location:392494
      SPRY_Ash2; SPRY domain in Ash2
    4. XM_005273683.1XP_005273740.1  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform X4

      See identical proteins and their annotated locations for XP_005273740.1

      Conserved Domains (2) summary
      cd15583
      Location:756
      PHD_ash2p_like; PHD finger found in Schizosaccharomyces pombe Set1 complex component ash2 (spAsh2p) and similar proteins
      cd12872
      Location:304495
      SPRY_Ash2; SPRY domain in Ash2
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