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 ... See more...

Aliases for ASXL2 Gene

Aliases for ASXL2 Gene

  • ASXL Transcriptional Regulator 2 2 3 5
  • ASXH2 2 3 4
  • Additional Sex Combs Like 2, Transcriptional Regulator 2 3
  • Putative Polycomb Group Protein ASXL2 3 4
  • Additional Sex Combs-Like Protein 2 3 4
  • KIAA1685 2 4
  • Additional Sex Combs Like 2 (Drosophila) 2
  • Polycomb Group Protein ASXH2 3
  • FLJ10898 2
  • SHAPNS 3
  • ASXL2 5

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

  • 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]

GeneCards Summary for ASXL2 Gene

ASXL2 (ASXL Transcriptional Regulator 2) is a Protein Coding gene. Diseases associated with ASXL2 include Shashi-Pena Syndrome and Myelodysplastic Syndrome. Among its related pathways are Deubiquitination and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include peroxisome proliferator activated receptor binding. An important paralog of this gene is ASXL3.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ASXL2 Gene

Genomics for ASXL2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ASXL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J025876 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 260.5 +0.7 686 4 SP1 MYC ZNF600 IKZF1 SIX5 ZNF592 KLF9 POLR2A CEBPA CHD4 ASXL2 HSALNG0013683 HSALNG0013684 KIF3C DNMT3A DTNB ENSG00000218682
GH02J025856 Promoter 0.3 EPDnew 250.4 +21.5 21539 0.1 ENSG00000218682 ASXL2 DTNB HSALNG0013683 RF00017-2833
GH02J026784 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 37 -907.9 -907914 3.2 BCLAF1 SP1 ZNF207 MYC SSRP1 ZNF592 ZMYM3 KLF9 JUND POLR2A CENPA NONHSAG027291.2 ATRAID EIF2B4 ASXL2 NRBP1 GTF3C2 GPN1 ENSG00000234072 PPM1G
GH02J026032 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 18.9 -156.4 -156356 5.1 BCLAF1 SP1 ZNF207 IKZF1 ZNF600 MYC SSRP1 ZNF580 ZNF592 ATF2 RAB10 NONHSAG027270.2 lnc-KIF3C-3 DNMT3A TMEM214 ASXL2 CENPA RPS2P15 GAREM2 HSALNG0013698
GH02J025249 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 18.9 +626.5 626486 4.6 ZNF207 IKZF1 ZNF592 KLF9 CEBPA NFIC MXD4 NONO KLF11 HOMEZ DNMT3A ASXL2 ITSN2 POMC RPS2P15 ADCY3 EFR3B lnc-POMC-2 HSALNG0013647
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASXL2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ASXL2

Top Transcription factor binding sites by QIAGEN in the ASXL2 gene promoter:
  • E47
  • Egr-3
  • FOXL1
  • FOXO1
  • FOXO1a
  • GR
  • GR-alpha
  • GR-beta
  • Max1
  • p53

Genomic Locations for ASXL2 Gene

Latest Assembly
chr2:25,733,753-25,878,487
(GRCh38/hg38)
Size:
144,735 bases
Orientation:
Minus strand

Previous Assembly
chr2:25,956,622-26,101,356
(GRCh37/hg19 by Entrez Gene)
Size:
144,735 bases
Orientation:
Minus strand

chr2:25,956,622-26,101,385
(GRCh37/hg19 by Ensembl)
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

Post-translational modifications for ASXL2 Gene

  • Ubiquitination at Lys370
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ASXL2 Gene

Domains & Families for ASXL2 Gene

Gene Families for ASXL2 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for ASXL2 Gene

Suggested Antigen Peptide Sequences for ASXL2 Gene

GenScript: Design optimal peptide antigens:
  • Additional sex combs-like protein 2 (ASXL2_HUMAN)

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.
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.
genes like me logo Genes that share domains with ASXL2: view

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.

Phenotypes From GWAS Catalog for ASXL2 Gene

Gene Ontology (GO) - Molecular Function for ASXL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IBA 21873635
GO:0005515 protein binding IPI --
GO:0042975 peroxisome proliferator activated receptor binding IBA,IDA 21047783
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ASXL2: view
genes like me logo Genes that share phenotypes with ASXL2: view

Human Phenotype Ontology for ASXL2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ASXL2 Gene

MGI Knock Outs for ASXL2:
  • Asxl2 Asxl2<tm1b(EUCOMM)Hmgu>

miRNA for ASXL2 Gene

miRTarBase miRNAs that target ASXL2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASXL2

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASXL2 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ASXL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0035517 PR-DUB complex IBA 21873635
genes like me logo Genes that share ontologies with ASXL2: view

Pathways & Interactions for ASXL2 Gene

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

Pathways by source for ASXL2 Gene

SIGNOR curated interactions for ASXL2 Gene

Activates:

Gene Ontology (GO) - Biological Process for ASXL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0009887 animal organ morphogenesis IBA 21873635
GO:0010884 positive regulation of lipid storage IEA --
GO:0016579 protein deubiquitination TAS --
genes like me logo Genes that share ontologies with ASXL2: view

Drugs & Compounds for ASXL2 Gene

No Compound Related Data Available

Transcripts for ASXL2 Gene

mRNA/cDNA for ASXL2 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASXL2

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

Expression for ASXL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for ASXL2 Gene



Protein tissue co-expression partners for ASXL2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ASXL2

SOURCE GeneReport for Unigene cluster for ASXL2 Gene:

Hs.119815

Evidence on tissue expression from TISSUES for ASXL2 Gene

  • Nervous system(4.4)
  • Liver(4.4)
  • Bone marrow(4.3)
  • Blood(2.3)
  • Muscle(2.2)
  • Spleen(2.1)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with ASXL2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 29 30
  • 99.54 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ASXL2 29 30
  • 89.66 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ASXL2 29 30
  • 88.34 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Asxl2 29 16 30
  • 85.46 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Asxl2 29
  • 84.55 (n)
Oppossum
(Monodelphis domestica)
Mammalia ASXL2 30
  • 71 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ASXL2 30
  • 61 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ASXL2 29 30
  • 66.54 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ASXL2 30
  • 62 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii LOC100150267 29
  • 60.86 (n)
asxl2 30
  • 41 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Asx 30
  • 14 (a)
OneToMany
Species where no ortholog for ASXL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ASXL2: view image
Alliance of Genome Resources:
Additional Orthologs for ASXL2

Paralogs for ASXL2 Gene

Paralogs for ASXL2 Gene

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

  • ASXL2_HUMAN
  • E7EWD6_HUMAN
genes like me logo Genes that share paralogs with ASXL2: view

Variants for ASXL2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ASXL2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
1000038 Uncertain Significance: not provided 25,744,070(-) GTC/G
NM_018263.6(ASXL2):c.2265_2266del (p.Glu755fs)
FRAMESHIFT
1005509 Uncertain Significance: not provided 25,744,072(-) CT/C
NM_018263.6(ASXL2):c.2264del (p.Glu755fs)
FRAMESHIFT
1006906 Uncertain Significance: not provided 25,744,303(-) G/GGCGGCA
NM_018263.6(ASXL2):c.2022TGCCGC[3] (p.Ala683_Ala684dup)
INFRAME_INSERTION
1029688 Uncertain Significance: Shashi-Pena syndrome 25,744,199(-) C/T
NM_018263.6(ASXL2):c.2138G>A (p.Gly713Asp)
MISSENSE
1030642 Uncertain Significance: Shashi-Pena syndrome 25,743,728(-) G/A
NM_018263.6(ASXL2):c.2609C>T (p.Ala870Val)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ASXL2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv1103e212 CNV loss 25503493
esv2676793 CNV deletion 23128226
esv33316 CNV loss 17666407
esv3590099 CNV loss 21293372
esv3590101 CNV loss 21293372
esv3590102 CNV loss 21293372
esv3891648 CNV loss 25118596
nsv1000297 CNV gain 25217958
nsv1131453 CNV deletion 24896259
nsv474369 CNV novel sequence insertion 20440878
nsv508716 CNV deletion 20534489
nsv963215 CNV duplication 23825009
nsv978986 CNV duplication 23825009

Variation tolerance for ASXL2 Gene

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

Additional Variant Information for ASXL2 Gene

Human Gene Mutation Database (HGMD)
ASXL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASXL2
Leiden Open Variation Database (LOVD)
ASXL2

SNP Genotyping and Copy Number Assays for research

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

Disorders for ASXL2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ASXL2 Gene - From: OMI, CVR, GTR, COP, and GCD

Disorder Aliases PubMed IDs
shashi-pena syndrome
  • shapns
myelodysplastic syndrome
  • mds
- elite association - COSMIC cancer census association via MalaCards
Search ASXL2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ASXL2_HUMAN
  • Shashi-Pena syndrome (SHAPNS) [MIM:617190]: An autosomal dominant syndrome characterized by delayed psychomotor development, intellectual disability of variable severity, macrocephaly, prominent eyes, arched eyebrows, hypertelorism, a glabellar nevus flammeus, neonatal feeding difficulties, and hypotonia. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures. {ECO:0000269 PubMed:27693232}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • 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.

Additional Disease Information for ASXL2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ASXL2: view

No data available for Genatlas for ASXL2 Gene

Publications for ASXL2 Gene

  1. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. (PMID: 27693232) Shashi V … Kortüm F (American journal of human genetics 2016) 3 4 72
  2. Identification and characterization of ASXL2 gene in silico. (PMID: 12888926) Katoh M … Katoh M (International journal of oncology 2003) 2 3 22
  3. Additional sex comb-like (ASXL) proteins 1 and 2 play opposite roles in adipogenesis via reciprocal regulation of peroxisome proliferator-activated receptor {gamma}. (PMID: 21047783) Park UH … Um SJ (The Journal of biological chemistry 2011) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4

Products for ASXL2 Gene

Sources for ASXL2 Gene