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

    Gene ID: 9070, updated on 10-Dec-2024

    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; AllianceGenome:HGNC:744
    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
    Summary
    Enables beta-catenin binding activity and transcription cis-regulatory region binding activity. Involved in positive regulation of cell population proliferation; response to estrogen; and transcription initiation-coupled chromatin remodeling. Acts upstream of or within DNA damage response. Located in nucleus. Part of MLL1 complex; MLL3/4 complex; and Set1C/COMPASS complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 20.9), fat (RPKM 13.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ASH2L in Genome Data Viewer
    Location:
    8p11.23
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (38105493..38140080)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (38382461..38417070)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (37963011..37997598)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr8:37845776-37845966 Neighboring gene ribosomal protein L12 pseudogene 48 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:37871736-37871907 Neighboring gene NANOG hESC enhancer GRCh37_chr8:37872816-37873317 Neighboring gene Sharpr-MPRA regulatory region 54 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27240 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:37892967-37893468 Neighboring gene eukaryotic translation initiation factor 4E binding protein 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:37911667-37911880 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:37927359-37928086 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:37929540-37930265 Neighboring gene Sharpr-MPRA regulatory region 11218 Neighboring gene CRISPRi-validated cis-regulatory element chr8.1253 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:37960345-37960633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19115 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27241 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19116 Neighboring gene RNA, U6 small nuclear 988, pseudogene Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:37990733-37991476 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:37991477-37992222 Neighboring gene Sharpr-MPRA regulatory region 4493 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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription cis-regulatory region binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of MLL1 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of MLL1/2 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of MLL3/4 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of MLL3/4 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of Set1C/COMPASS complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of Set1C/COMPASS complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of Set1C/COMPASS complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in euchromatin IEA
    Inferred from Electronic Annotation
    more info
     
    part_of histone methyltransferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in 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)

    NEW Try the new Transcript table

    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/TrEMBL
      B4DPT1
      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/TrEMBL
      B4DPT1
      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
      A8K7C3, D3DSW9, O60659, O60660, Q96B62, Q9UBL3
      UniProtKB/TrEMBL
      A8K6T5
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      38105493..38140080
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005273682.2XP_005273739.1  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform X1

      UniProtKB/TrEMBL
      A8K6T5
      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_006716412.2XP_006716475.1  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform X2

      UniProtKB/TrEMBL
      A8K6T5
      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_006716413.4XP_006716476.1  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform X3

      UniProtKB/TrEMBL
      A8K6T5
      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_005273683.2XP_005273740.1  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform X4

      See identical proteins and their annotated locations for XP_005273740.1

      UniProtKB/TrEMBL
      B4DPT1
      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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      38382461..38417070
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361469.1XP_054217444.1  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform X1

      UniProtKB/TrEMBL
      A8K6T5
    2. XM_054361470.1XP_054217445.1  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform X2

      UniProtKB/TrEMBL
      A8K6T5
    3. XM_054361471.1XP_054217446.1  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform X3

      UniProtKB/TrEMBL
      A8K6T5
    4. XM_054361472.1XP_054217447.1  set1/Ash2 histone methyltransferase complex subunit ASH2 isoform X4

      UniProtKB/TrEMBL
      B4DPT1