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    ASXL2 ASXL transcriptional regulator 2 [ Homo sapiens (human) ]

    Gene ID: 55252, updated on 28-Oct-2024

    Summary

    Official Symbol
    ASXL2provided by HGNC
    Official Full Name
    ASXL transcriptional regulator 2provided by HGNC
    Primary source
    HGNC:HGNC:23805
    See related
    Ensembl:ENSG00000143970 MIM:612991; AllianceGenome:HGNC:23805
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ASXH2; SHAPNS
    Summary
    This gene encodes a member of a family of epigenetic regulators that bind various histone-modifying enzymes and are involved in the assembly of transcription factors at specific genomic loci. Naturally occurring mutations in this gene are associated with cancer in several tissue types (breast, bladder, pancreas, ovary, prostate, and blood). This gene plays an important role in neurodevelopment, cardiac function, adipogenesis, and osteoclastogenesis. [provided by RefSeq, Feb 2017]
    Expression
    Ubiquitous expression in testis (RPKM 5.8), thyroid (RPKM 4.6) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ASXL2 in Genome Data Viewer
    Location:
    2p23.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (25733753..25878487, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (25769050..25913813, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (25956622..26101356, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900608 Neighboring gene dystrobrevin beta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15457 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15458 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15459 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 2:25722050 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:25724405-25724507 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 2:25741070 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15461 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 2:25749376 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:25757983-25758812 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 2:25761103 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:25781041-25781736 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 2:25786543 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 2:25787416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11262 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15462 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:25827447-25827680 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 2:25873082 Neighboring gene Sharpr-MPRA regulatory region 7937 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15463 Neighboring gene Sharpr-MPRA regulatory region 10860 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25945408-25946199 Neighboring gene uncharacterized LOC105374332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25966542-25967042 Neighboring gene uncharacterized LOC124906191 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15464 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15465 Neighboring gene Sharpr-MPRA regulatory region 10168 Neighboring gene prostaglandin E synthase 3 pseudogene 2 Neighboring gene tropomyosin 3 pseudogene 7 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:26083605-26084105 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15466 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11264 Neighboring gene NADH:ubiquinone oxidoreductase subunit B4 pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26202609-26203118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:26203119-26203627 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:26204137-26204645 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:26204646-26205155 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11265 Neighboring gene kinesin family member 3C

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Associated conditions

    Description Tests
    Shashi-Pena syndrome
    MedGen: C4310672 OMIM: 617190 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2018-06-28)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2018-06-28)

    ClinGen Genome Curation Page

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of additional sex combs like 2 (ASXL2) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ10898, KIAA1685, DKFZp686C1968

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables peroxisome proliferator activated receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables peroxisome proliferator activated receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of PR-DUB complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    putative Polycomb group protein ASXL2
    Names
    additional sex combs like 2, transcriptional regulator
    additional sex combs-like protein 2
    polycomb group protein ASXH2

    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.

    Genomic

    1. NG_052995.1 RefSeqGene

      Range
      5030..149764
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1421

    mRNA and Protein(s)

    1. NM_001369346.1NP_001356275.1  putative Polycomb group protein ASXL2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC010150, AC064847
      UniProtKB/TrEMBL
      E7EWD6
      Conserved Domains (3) summary
      PHA03247
      Location:686926
      PHA03247; large tegument protein UL36; Provisional
      pfam13922
      Location:13151375
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam13919
      Location:202320
      ASXH; Asx homology domain
    2. NM_001369347.1NP_001356276.1  putative Polycomb group protein ASXL2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC010150, AC064847
      UniProtKB/TrEMBL
      E7EWD6
      Conserved Domains (3) summary
      PHA03247
      Location:484724
      PHA03247; large tegument protein UL36; Provisional
      pfam13922
      Location:11131173
      PHD_3; PHD domain of transcriptional enhancer, Asx
      pfam13919
      Location:1118
      ASXH; Asx homology domain
    3. NM_018263.6NP_060733.4  putative Polycomb group protein ASXL2 isoform 1

      See identical proteins and their annotated locations for NP_060733.4

      Status: REVIEWED

      Source sequence(s)
      AB051472, AC010150, BX647527
      Consensus CDS
      CCDS92720.1
      UniProtKB/Swiss-Prot
      Q53TC9, Q5H9U4, Q76L81, Q76L83, Q86XM1, Q9C0H8, Q9NV67
      UniProtKB/TrEMBL
      E7EWD6
      Related
      ENSP00000391447.3, ENST00000435504.9
      Conserved Domains (3) summary
      pfam05066
      Location:1183
      HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
      pfam13919
      Location:260378
      ASXH; Asx homology domain
      pfam13922
      Location:13731433
      PHD_3; PHD domain of transcriptional enhancer, Asx

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      25733753..25878487 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      25769050..25913813 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)