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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 2 (Drosophila) 2
  • Putative Polycomb Group Protein ASXL2 3
  • Polycomb Group Protein ASXH2 3
  • KIAA1685 4
  • SHAPNS 3

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

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.

Additional gene information for ASXL2 Gene

No data available for CIViC summary , 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

Enhancers for ASXL2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H026717 2.2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 22.2 -843.7 -843739 10 HDGF FOXA2 MLX SIN3A DMAP1 YY1 ZNF766 FOS SP5 REST EIF2B4 GPN1 CAD NRBP1 GTF3C2-AS1 ASXL2 CENPA LOC105374363 KCNK3 TMEM214
GH02H026784 1.1 ENCODE 41 -907.6 -907592 2 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B PPM1G ASXL2 EIF2B4 ATRAID NRBP1 GPN1 GTF3C2 GTF3C2-AS1 CENPA AGBL5
GH02H026242 1.4 ENCODE dbSUPER 15.5 -366.3 -366299 5 HNRNPUL1 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 CAD ASXL2 HADHA ATRAID DNMT3A RPS2P15 TMEM214 GAREM2 LOC105374334
GH02H026342 1.4 ENCODE dbSUPER 14.8 -467.3 -467254 6 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 CAD GTF3C2-AS1 ASXL2 ENSG00000272148 AGBL5 KIF3C GAREM2 ADGRF3 AGBL5-IT1 ENSG00000272056
GH02H024970 1.4 ENCODE dbSUPER 14.8 +906.3 906281 3 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ADCY3 ASXL2 WDCP EFR3B LINC01381 POMC DNAJC27 PTRHD1 ENSG00000207069 GC02M025008
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ASXL2 on UCSC Golden Path with GeneCards custom track

Promoters for ASXL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000114223 516 2001 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

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

Post-translational modifications for ASXL2 Gene

  • Ubiquitination at posLast=370370
  • 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:

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:0042975 peroxisome proliferator activated receptor binding 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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ASXL2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , 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
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
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 --
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

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:0016579 protein deubiquitination TAS --
GO:0035360 positive regulation of peroxisome proliferator activated receptor signaling pathway IDA 21047783
GO:0045600 positive regulation of fat cell differentiation IDA 21047783
genes like me logo Genes that share ontologies with ASXL2: view

No data available for 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ASXL2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for ASXL2 Gene



Protein tissue co-expression partners for ASXL2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ASXL2 Gene:

ASXL2

SOURCE GeneReport for Unigene cluster for ASXL2 Gene:

Hs.119815

Evidence on tissue expression from TISSUES for ASXL2 Gene

  • Nervous system(4.3)
  • Liver(4.2)
  • Bone marrow(4.1)
genes like me logo Genes that share expression patterns with ASXL2: view

Primer Products

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 33 34
  • 99.54 (n)
dog
(Canis familiaris)
Mammalia ASXL2 33 34
  • 89.66 (n)
cow
(Bos Taurus)
Mammalia ASXL2 33 34
  • 88.34 (n)
mouse
(Mus musculus)
Mammalia Asxl2 33 16 34
  • 85.46 (n)
rat
(Rattus norvegicus)
Mammalia Asxl2 33
  • 84.55 (n)
oppossum
(Monodelphis domestica)
Mammalia ASXL2 34
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASXL2 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASXL2 33 34
  • 66.54 (n)
lizard
(Anolis carolinensis)
Reptilia ASXL2 34
  • 62 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC100150267 33
  • 60.86 (n)
asxl2 34
  • 41 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Asx 34
  • 14 (a)
OneToMany
Species where no ortholog for ASXL2 was found in the sources mined by GeneCards:
  • 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
rs886041065 Pathogenic 25,743,913(-) AACCC(-/C)ACCAG reference, frameshift-variant
rs886041066 Pathogenic 25,744,255(-) CCTGG(-/G)CCCAG reference, frameshift-variant
rs886041067 Pathogenic 25,750,328(-) AACAA(-/CCAA)AATCC reference, frameshift-variant
rs886041068 Pathogenic 25,743,865(-) GGGCC(-/C)AGTAG reference, frameshift-variant
rs886041069 Pathogenic 25,743,363(-) GGATG(-/GGAG)CGCTC reference, frameshift-variant

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)

Relevant External Links for ASXL2 Gene

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

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

Disorders for ASXL2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ASXL2 Gene - From: HGMD, OMIM, ClinVar, and GeneCards

Disorder Aliases PubMed IDs
shashi-pena syndrome
  • shapns
- 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
  • 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.
  • 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 mutations affecting the gene represented in this entry.

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

No data available for Genatlas for ASXL2 Gene

Publications for ASXL2 Gene

  1. Identification and characterization of ASXL2 gene in silico. (PMID: 12888926) Katoh M … Katoh M (International journal of oncology 2003) 2 3 22 60
  2. 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 60
  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 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  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 60

Products for ASXL2 Gene

Sources for ASXL2 Gene

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