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ASXL2 (additional sex combs like 2, transcriptional regulator)

Identity

Alias_namesadditional sex combs like 2 (Drosophila)
Alias_symbol (synonym)ASXH2
FLJ10898
KIAA1685
Other alias
HGNC (Hugo) ASXL2
LocusID (NCBI) 55252
Atlas_Id 52971
Location 2p23.3  [Link to chromosome band 2p23]
Location_base_pair Starts at 25962253 and ends at 26101312 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ASXL2 (2p23.3) / ASXL2 (2p23.3)ASXL2 (2p23.3) / C2orf44 (2p23.3)ASXL2 (2p23.3) / FKBP8 (19p13.11)
ASXL2 (2p23.3) / HSPH1 (13q12.3)ASXL2 (2p23.3) / KIF3C (2p23.3)ASXL2 (2p23.3) / MORC3 (21q22.12)
ASXL2 (2p23.3) / SRBD1 (2p21)ASXL2 (2p23.3) / ZNF462 (9q31.2)C19orf57 (19p13.13) / ASXL2 (2p23.3)
EPC1 (10p11.22) / ASXL2 (2p23.3)KAT6A (8p11.21) / ASXL2 (2p23.3)LGALS4 (19q13.2) / ASXL2 (2p23.3)
MICA (6p21.33) / ASXL2 (2p23.3)NEGR1 (1p31.1) / ASXL2 (2p23.3)SERPINA1 (14q32.13) / ASXL2 (2p23.3)
ASXL2 2p23.3 / C2orf44 2p23.3ASXL2 2p23.3 / FKBP8 19p13.11ASXL2 2p23.3 / HSPH1 13q12.3
ASXL2 2p23.3 / KIF3C 2p23.3ASXL2 2p23.3 / MORC3 21q22.12ASXL2 2p23.3 / SRBD1 2p21

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(2;8)(p23;p11) KAT6A/ASXL2


External links

Nomenclature
HGNC (Hugo)ASXL2   23805
Cards
Entrez_Gene (NCBI)ASXL2  55252  additional sex combs like 2, transcriptional regulator
AliasesASXH2
GeneCards (Weizmann)ASXL2
Ensembl hg19 (Hinxton)ENSG00000143970 [Gene_View]  chr2:25962253-26101312 [Contig_View]  ASXL2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000143970 [Gene_View]  chr2:25962253-26101312 [Contig_View]  ASXL2 [Vega]
ICGC DataPortalENSG00000143970
TCGA cBioPortalASXL2
AceView (NCBI)ASXL2
Genatlas (Paris)ASXL2
WikiGenes55252
SOURCE (Princeton)ASXL2
Genetics Home Reference (NIH)ASXL2
Genomic and cartography
GoldenPath hg19 (UCSC)ASXL2  -     chr2:25962253-26101312 -  2p23.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ASXL2  -     2p23.3   [Description]    (hg38-Dec_2013)
EnsemblASXL2 - 2p23.3 [CytoView hg19]  ASXL2 - 2p23.3 [CytoView hg38]
Mapping of homologs : NCBIASXL2 [Mapview hg19]  ASXL2 [Mapview hg38]
OMIM612991   
Gene and transcription
Genbank (Entrez)AB051472 AB084279 AK000649 AK001760 BC042999
RefSeq transcript (Entrez)NM_018263
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_022184 NW_004929300
Consensus coding sequences : CCDS (NCBI)ASXL2
Cluster EST : UnigeneHs.119815 [ NCBI ]
CGAP (NCI)Hs.119815
Alternative Splicing GalleryENSG00000143970
Gene ExpressionASXL2 [ NCBI-GEO ]   ASXL2 [ EBI - ARRAY_EXPRESS ]   ASXL2 [ SEEK ]   ASXL2 [ MEM ]
Gene Expression Viewer (FireBrowse)ASXL2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55252
GTEX Portal (Tissue expression)ASXL2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ76L83   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ76L83  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ76L83
Splice isoforms : SwissVarQ76L83
PhosPhoSitePlusQ76L83
Domains : Interpro (EBI)ASX-like_PHD    ASX/ASX-like    ASXH    ASXL2    HB1/Asxl_HTH   
Domain families : Pfam (Sanger)ASXH (PF13919)    HARE-HTH (PF05066)    PHD_3 (PF13922)   
Domain families : Pfam (NCBI)pfam13919    pfam05066    pfam13922   
Conserved Domain (NCBI)ASXL2
DMDM Disease mutations55252
Blocks (Seattle)ASXL2
SuperfamilyQ76L83
Human Protein AtlasENSG00000143970
Peptide AtlasQ76L83
HPRD10676
IPIIPI00419431   IPI00384569   
Protein Interaction databases
DIP (DOE-UCLA)Q76L83
IntAct (EBI)Q76L83
FunCoupENSG00000143970
BioGRIDASXL2
STRING (EMBL)ASXL2
ZODIACASXL2
Ontologies - Pathways
QuickGOQ76L83
Ontology : AmiGODNA binding  nucleoplasm  transcription, DNA-templated  positive regulation of peroxisome proliferator activated receptor signaling pathway  peroxisome proliferator activated receptor binding  positive regulation of fat cell differentiation  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  
Ontology : EGO-EBIDNA binding  nucleoplasm  transcription, DNA-templated  positive regulation of peroxisome proliferator activated receptor signaling pathway  peroxisome proliferator activated receptor binding  positive regulation of fat cell differentiation  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  
NDEx NetworkASXL2
Atlas of Cancer Signalling NetworkASXL2
Wikipedia pathwaysASXL2
Orthology - Evolution
OrthoDB55252
GeneTree (enSembl)ENSG00000143970
Phylogenetic Trees/Animal Genes : TreeFamASXL2
HOVERGENQ76L83
HOGENOMQ76L83
Homologs : HomoloGeneASXL2
Homology/Alignments : Family Browser (UCSC)ASXL2
Gene fusions - Rearrangements
Fusion : MitelmanASXL2/C2orf44 [2p23.3/2p23.3]  
Fusion : MitelmanASXL2/FKBP8 [2p23.3/19p13.11]  [t(2;19)(p23;p13)]  
Fusion : MitelmanASXL2/HSPH1 [2p23.3/13q12.3]  [t(2;13)(p23;q12)]  
Fusion : MitelmanASXL2/KIF3C [2p23.3/2p23.3]  [t(2;2)(p23;p23)]  
Fusion : MitelmanASXL2/MORC3 [2p23.3/21q22.12]  [t(2;21)(p23;q22)]  
Fusion : MitelmanASXL2/SRBD1 [2p23.3/2p21]  [t(2;2)(p21;p23)]  
Fusion : MitelmanEPC1/ASXL2 [10p11.22/2p23.3]  [t(2;10)(p23;p11)]  
Fusion : MitelmanKAT6A/ASXL2 [8p11.21/2p23.3]  [t(2;8)(p23;p11)]  
Fusion: TCGAASXL2 2p23.3 C2orf44 2p23.3 PRAD
Fusion: TCGAASXL2 2p23.3 FKBP8 19p13.11 BRCA
Fusion: TCGAASXL2 2p23.3 HSPH1 13q12.3 BRCA
Fusion: TCGAASXL2 2p23.3 KIF3C 2p23.3 BRCA
Fusion: TCGAASXL2 2p23.3 MORC3 21q22.12 PRAD
Fusion: TCGAASXL2 2p23.3 SRBD1 2p21 LUAD
Fusion Cancer (Beijing)SERPINA1 [14q32.13]  -  ASXL2 [2p23.3]  [FUSC002076]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerASXL2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ASXL2
dbVarASXL2
ClinVarASXL2
1000_GenomesASXL2 
Exome Variant ServerASXL2
ExAC (Exome Aggregation Consortium)ASXL2 (select the gene name)
Genetic variants : HAPMAP55252
Genomic Variants (DGV)ASXL2 [DGVbeta]
DECIPHER (Syndromes)2:25962253-26101312  ENSG00000143970
CONAN: Copy Number AnalysisASXL2 
Mutations
ICGC Data PortalASXL2 
TCGA Data PortalASXL2 
Broad Tumor PortalASXL2
OASIS PortalASXL2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICASXL2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDASXL2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ASXL2
DgiDB (Drug Gene Interaction Database)ASXL2
DoCM (Curated mutations)ASXL2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ASXL2 (select a term)
intoGenASXL2
Cancer3DASXL2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612991   
Orphanet
MedgenASXL2
Genetic Testing Registry ASXL2
NextProtQ76L83 [Medical]
TSGene55252
GENETestsASXL2
Huge Navigator ASXL2 [HugePedia]
snp3D : Map Gene to Disease55252
BioCentury BCIQASXL2
ClinGenASXL2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55252
Chemical/Pharm GKB GenePA134884863
Clinical trialASXL2
Miscellaneous
canSAR (ICR)ASXL2 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineASXL2
EVEXASXL2
GoPubMedASXL2
iHOPASXL2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:56:47 CET 2017

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