Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ASXL2 Gene

Aliases for ASXL2 Gene

  • Additional Sex Combs Like 2, Transcriptional Regulator 2 3 5
  • Additional Sex Combs-Like Protein 2 3 4
  • ASXH2 3 4
  • Additional Sex Combs Like Transcriptional Regulator 2 3
  • Additional Sex Combs Like 2 (Drosophila) 2
  • Polycomb Group Protein ASXH2 3
  • Additional Sex Combs Like 2 3
  • KIAA1685 4

External Ids for ASXL2 Gene

Previous GeneCards Identifiers for ASXL2 Gene

  • GC02M025936
  • GC02M025872
  • GC02M025815
  • GC02M025960
  • GC02M025699

Summaries for ASXL2 Gene

Entrez Gene Summary for ASXL2 Gene

  • ASXL2 is a human homolog of the Drosophila asx gene. Drosophila asx is an enhancer of trithorax (see MIM 159555) and polycomb (see MIM 610231) (ETP) gene that encodes a chromatin protein with dual functions in transcriptional activation and silencing (Katoh and Katoh, 2003 [PubMed 12888926]).[supplied by OMIM, Sep 2009]

GeneCards Summary for ASXL2 Gene

ASXL2 (Additional Sex Combs Like 2, Transcriptional Regulator) is a Protein Coding gene. GO annotations related to this gene include peroxisome proliferator activated receptor binding. An important paralog of this gene is ASXL1.

UniProtKB/Swiss-Prot for ASXL2 Gene

  • Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity). Involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as peroxisome proliferator-activated receptor gamma (PPARG). Acts as coactivator for PPARG and enhances its adipocyte differentiation-inducing activity; the function seems to involve differential recruitment of acetylated and methylated histone H3.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASXL2 Gene

Genomics for ASXL2 Gene

Regulatory Elements for ASXL2 Gene

Promoters for ASXL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ASXL2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ASXL2 Gene

Chromosome:
2
Start:
25,733,753 bp from pter
End:
25,878,516 bp from pter
Size:
144,764 bases
Orientation:
Minus strand

Genomic View for ASXL2 Gene

Genes around ASXL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASXL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASXL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASXL2 Gene

Proteins for ASXL2 Gene

  • Protein details for ASXL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q76L83-ASXL2_HUMAN
    Recommended name:
    Putative Polycomb group protein ASXL2
    Protein Accession:
    Q76L83
    Secondary Accessions:
    • Q53TC9
    • Q5H9U4
    • Q76L81
    • Q86XM1
    • Q9C0H8
    • Q9NV67

    Protein attributes for ASXL2 Gene

    Size:
    1435 amino acids
    Molecular mass:
    153820 Da
    Quaternary structure:
    • Interacts with PPARA and PPARG.
    SequenceCaution:
    • Sequence=BAA91889.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB21776.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD00088.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ASXL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASXL2 Gene

Proteomics data for ASXL2 Gene at MOPED

Post-translational modifications for ASXL2 Gene

  • Ubiquitination at Lys 370
  • Modification sites at PhosphoSitePlus

Other Protein References for ASXL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ASXL2 Gene

Domains & Families for ASXL2 Gene

Protein Domains for ASXL2 Gene

Suggested Antigen Peptide Sequences for ASXL2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q76L83

UniProtKB/Swiss-Prot:

ASXL2_HUMAN :
  • Contains two Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs, which may be required for an association with nuclear receptors.
  • Belongs to the Asx family.
  • Contains 1 PHD-type zinc finger.
Domain:
  • Contains two Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs, which may be required for an association with nuclear receptors.
Family:
  • Belongs to the Asx family.
Similarity:
  • Contains 1 PHD-type zinc finger.
genes like me logo Genes that share domains with ASXL2: view

No data available for Gene Families for ASXL2 Gene

Function for ASXL2 Gene

Molecular function for ASXL2 Gene

UniProtKB/Swiss-Prot Function:
Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity). Involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as peroxisome proliferator-activated receptor gamma (PPARG). Acts as coactivator for PPARG and enhances its adipocyte differentiation-inducing activity; the function seems to involve differential recruitment of acetylated and methylated histone H3.
genes like me logo Genes that share phenotypes with ASXL2: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ASXL2 Gene

Localization for ASXL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASXL2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ASXL2 Gene COMPARTMENTS Subcellular localization image for ASXL2 gene
Compartment Confidence
nucleus 5
golgi apparatus 4
cytosol 1

No data available for Gene Ontology (GO) - Cellular Components for ASXL2 Gene

Pathways & Interactions for ASXL2 Gene

SuperPathways for ASXL2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ASXL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045600 positive regulation of fat cell differentiation IDA 21047783
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IDA 21047783
genes like me logo Genes that share ontologies with ASXL2: view

No data available for Pathways by source and SIGNOR curated interactions for ASXL2 Gene

Drugs & Compounds for ASXL2 Gene

No Compound Related Data Available

Transcripts for ASXL2 Gene

Unigene Clusters for ASXL2 Gene

Additional sex combs like 2 (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ASXL2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c
SP1:
SP2: -

Relevant External Links for ASXL2 Gene

GeneLoc Exon Structure for
ASXL2
ECgene alternative splicing isoforms for
ASXL2

Expression for ASXL2 Gene

mRNA expression in normal human tissues for ASXL2 Gene

Protein differential expression in normal tissues from HIPED for ASXL2 Gene

This gene is overexpressed in Pancreatic juice (46.2) and Monocytes (15.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ASXL2 Gene



SOURCE GeneReport for Unigene cluster for ASXL2 Gene Hs.119815

genes like me logo Genes that share expression patterns with ASXL2: view

Protein tissue co-expression partners for ASXL2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ASXL2 Gene

Orthologs for ASXL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ASXL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASXL2 35
  • 99.54 (n)
  • 99.3 (a)
ASXL2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ASXL2 36
  • 85 (a)
OneToOne
ASXL2 35
  • 88.34 (n)
  • 87.54 (a)
dog
(Canis familiaris)
Mammalia ASXL2 35
  • 89.66 (n)
  • 87.29 (a)
ASXL2 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Asxl2 16
Asxl2 36
  • 79 (a)
OneToOne
Asxl2 35
  • 85.46 (n)
  • 81.52 (a)
oppossum
(Monodelphis domestica)
Mammalia ASXL2 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASXL2 36
  • 61 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Asxl2 35
  • 84.55 (n)
  • 80.81 (a)
chicken
(Gallus gallus)
Aves ASXL2 35
  • 66.54 (n)
  • 62.54 (a)
ASXL2 36
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASXL2 36
  • 62 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii asxl2 36
  • 41 (a)
OneToOne
LOC100150267 35
  • 60.86 (n)
  • 58.23 (a)
fruit fly
(Drosophila melanogaster)
Insecta Asx 36
  • 14 (a)
OneToMany
Species with no ortholog for ASXL2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fission yeast (Schizosaccharomyces pombe)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ASXL2 Gene

ENSEMBL:
Gene Tree for ASXL2 (if available)
TreeFam:
Gene Tree for ASXL2 (if available)

Paralogs for ASXL2 Gene

Paralogs for ASXL2 Gene

(1) SIMAP similar genes for ASXL2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ASXL2: view

Variants for ASXL2 Gene

Sequence variations from dbSNP and Humsavar for ASXL2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs13385963 - 25,744,145(+) CTGCC(A/G)GTTCC reference, missense
rs17854251 - 25,743,950(+) TGTGG(A/G)CTGGT reference, missense
rs12991178 - 25,742,709(+) ACTTG(C/G/T)GTCAC reference, missense
rs12990978 - 25,742,613(+) TAAAG(C/G/T)GGTTT reference, missense
rs890681 -- 25,755,618(-) TCTGT(G/T)TATTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ASXL2 Gene

Variant ID Type Subtype PubMed ID
esv33316 CNV Loss 17666407
nsv873743 CNV Loss 21882294
nsv508716 CNV Loss 20534489
nsv873744 CNV Loss 21882294
esv2676793 CNV Deletion 23128226

Variation tolerance for ASXL2 Gene

Gene Damage Index Score: 4.31; 62.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ASXL2 Gene

HapMap Linkage Disequilibrium report
ASXL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASXL2 Gene

Disorders for ASXL2 Gene

UniProtKB/Swiss-Prot

ASXL2_HUMAN
  • Note=A chromosomal aberration involving ASXL2 is a cause of therapy-related myelodysplastic syndrome. Translocation t(2;8)(p23;p11.2) with KAT6A generates a KAT6A-ASXL2 fusion protein.

Relevant External Links for ASXL2

Genetic Association Database (GAD)
ASXL2
Human Genome Epidemiology (HuGE) Navigator
ASXL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ASXL2

No disorders were found for ASXL2 Gene.

No data available for MalaCards and Genatlas for ASXL2 Gene

Publications for ASXL2 Gene

  1. Identification and characterization of ASXL2 gene in silico. (PMID: 12888926) Katoh M. … Katoh M. (Int. J. Oncol. 2003) 2 3 23 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. WTIP interacts with ASXL2 and blocks ASXL2-mediated activation of retinoic acid signaling. (PMID: 25065743) Khan F.F. … Wang Q.T. (Biochem. Biophys. Res. Commun. 2014) 3
  4. Frequent ASXL2 mutations in acute myeloid leukemia patients with t(8;21)/RUNX1-RUNX1T1 chromosomal translocations. (PMID: 24973361) Micol J.B. … Jourdan E. (Blood 2014) 3
  5. The HECT type ubiquitin ligase NEDL2 is degraded by anaphase-promoting complex/cyclosome (APC/C)-Cdh1, and its tight regulation maintains the metaphase to anaphase transition. (PMID: 24163370) Lu L. … Zhang L. (J. Biol. Chem. 2013) 3

Products for ASXL2 Gene

Sources for ASXL2 Gene

Back to Top

Content