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

Gene ID: 55252, updated on 25-Nov-2021

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
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
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Genomic context

See ASXL2 in Genome Data Viewer
Location:
2p23.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (25733753..25878487, complement)
105.20201022 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 dystrobrevin beta Neighboring gene DTNB antisense RNA 1 Neighboring gene uncharacterized LOC105374332 Neighboring gene prostaglandin E synthase 3 pseudogene 2 Neighboring gene tropomyosin 3 pseudogene 7 Neighboring gene NADH:ubiquinone oxidoreductase subunit B4 pseudogene 4 Neighboring gene kinesin family member 3C

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

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

Homology

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
PubMed 
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
PubMed 
enables peroxisome proliferator activated receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
part_of PR-DUB complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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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
    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
    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
    UniProtKB/Swiss-Prot
    Q76L83
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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