Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

ASXL2 (ASXL transcriptional regulator 2)

Identity

Alias (NCBI)ASXH2
SHAPNS
HGNC (Hugo) ASXL2
HGNC Alias symbASXH2
FLJ10898
KIAA1685
HGNC Previous nameadditional sex combs like 2 (Drosophila)
 additional sex combs like 2, transcriptional regulator
LocusID (NCBI) 55252
Atlas_Id 52971
Location 2p23.3  [Link to chromosome band 2p23]
Location_base_pair Starts at 25733753 and ends at 25878487 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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) [ 3 ]
  t(2;8)(p23;p11) KAT6A/ASXL2
t(2;2)(p23;p23) ASXL2/PFN4
t(2;10)(p23;p11) EPC1/ASXL2


External links

 

Nomenclature
HGNC (Hugo)ASXL2   23805
Cards
Entrez_Gene (NCBI)ASXL2    ASXL transcriptional regulator 2
AliasesASXH2; SHAPNS
GeneCards (Weizmann)ASXL2
Ensembl hg19 (Hinxton)ENSG00000143970 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143970 [Gene_View]  ENSG00000143970 [Sequence]  chr2:25733753-25878487 [Contig_View]  ASXL2 [Vega]
ICGC DataPortalENSG00000143970
TCGA cBioPortalASXL2
AceView (NCBI)ASXL2
Genatlas (Paris)ASXL2
SOURCE (Princeton)ASXL2
Genetics Home Reference (NIH)ASXL2
Genomic and cartography
GoldenPath hg38 (UCSC)ASXL2  -     chr2:25733753-25878487 -  2p23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ASXL2  -     2p23.3   [Description]    (hg19-Feb_2009)
GoldenPathASXL2 - 2p23.3 [CytoView hg19]  ASXL2 - 2p23.3 [CytoView hg38]
ImmunoBaseENSG00000143970
Genome Data Viewer NCBIASXL2 [Mapview hg19]  
OMIM612991   617190   
Gene and transcription
Genbank (Entrez)AB051472 AB084279 AK000649 AK001760 AW295591
RefSeq transcript (Entrez)NM_001369346 NM_001369347 NM_018263
Consensus coding sequences : CCDS (NCBI)ASXL2
Gene ExpressionASXL2 [ NCBI-GEO ]   ASXL2 [ EBI - ARRAY_EXPRESS ]   ASXL2 [ SEEK ]   ASXL2 [ MEM ]
Gene Expression Viewer (FireBrowse)ASXL2 [ Firebrowse - Broad ]
GenevisibleExpression of ASXL2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55252
GTEX Portal (Tissue expression)ASXL2
Human Protein AtlasENSG00000143970-ASXL2 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ76L83
Domaine pattern : Prosite (Expaxy)DEUBAD (PS51916)    HTH_HARE (PS51913)   
Domains : Interpro (EBI)ASX-like_PHD    ASX/ASX-like    ASXH    ASXL2    Asxl_HARE-HTH   
Domain families : Pfam (Sanger)ASXH (PF13919)    HARE-HTH (PF05066)    PHD_3 (PF13922)   
Domain families : Pfam (NCBI)pfam13919    pfam05066    pfam13922   
Conserved Domain (NCBI)ASXL2
SuperfamilyQ76L83
AlphaFold pdb e-kbQ76L83   
Human Protein Atlas [tissue]ENSG00000143970-ASXL2 [tissue]
HPRD10676
Protein Interaction databases
DIP (DOE-UCLA)Q76L83
IntAct (EBI)Q76L83
BioGRIDASXL2
STRING (EMBL)ASXL2
ZODIACASXL2
Ontologies - Pathways
QuickGOQ76L83
Ontology : AmiGODNA binding  chromatin binding  nucleoplasm  nucleoplasm  transcription, DNA-templated  animal organ morphogenesis  positive regulation of lipid storage  protein deubiquitination  positive regulation of peroxisome proliferator activated receptor signaling pathway  PR-DUB complex  peroxisome proliferator activated receptor binding  peroxisome proliferator activated receptor binding  positive regulation of fat cell differentiation  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  metal ion binding  
Ontology : EGO-EBIDNA binding  chromatin binding  nucleoplasm  nucleoplasm  transcription, DNA-templated  animal organ morphogenesis  positive regulation of lipid storage  protein deubiquitination  positive regulation of peroxisome proliferator activated receptor signaling pathway  PR-DUB complex  peroxisome proliferator activated receptor binding  peroxisome proliferator activated receptor binding  positive regulation of fat cell differentiation  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  metal ion binding  
NDEx NetworkASXL2
Atlas of Cancer Signalling NetworkASXL2
Wikipedia pathwaysASXL2
Orthology - Evolution
OrthoDB55252
GeneTree (enSembl)ENSG00000143970
Phylogenetic Trees/Animal Genes : TreeFamASXL2
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]  
Fusion : MitelmanASXL2/HSPH1 [2p23.3/13q12.3]  
Fusion : MitelmanASXL2/KIF3C [2p23.3/2p23.3]  
Fusion : MitelmanASXL2/MORC3 [2p23.3/21q22.12]  
Fusion : MitelmanASXL2/SRBD1 [2p23.3/2p21]  
Fusion : MitelmanEPC1/ASXL2 [10p11.22/2p23.3]  
Fusion : MitelmanKAT6A/ASXL2 [8p11.21/2p23.3]  
Fusion Cancer (Beijing)SERPINA1 [14q32.13]  -  ASXL2 [2p23.3]  [FUSC002076]
Fusion : QuiverASXL2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerASXL2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ASXL2
dbVarASXL2
ClinVarASXL2
MonarchASXL2
1000_GenomesASXL2 
Exome Variant ServerASXL2
GNOMAD BrowserENSG00000143970
Varsome BrowserASXL2
ACMGASXL2 variants
VarityQ76L83
Genomic Variants (DGV)ASXL2 [DGVbeta]
DECIPHERASXL2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisASXL2 
Mutations
ICGC Data PortalASXL2 
TCGA Data PortalASXL2 
Broad Tumor PortalASXL2
OASIS PortalASXL2 [ Somatic mutations - Copy number]
Cancer Gene: CensusASXL2 
Somatic Mutations in Cancer : COSMICASXL2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DASXL2
Mutations and Diseases : HGMDASXL2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaASXL2
DgiDB (Drug Gene Interaction Database)ASXL2
DoCM (Curated mutations)ASXL2
CIViC (Clinical Interpretations of Variants in Cancer)ASXL2
Cancer3DASXL2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612991    617190   
Orphanet
DisGeNETASXL2
MedgenASXL2
Genetic Testing Registry ASXL2
NextProtQ76L83 [Medical]
GENETestsASXL2
Target ValidationASXL2
Huge Navigator ASXL2 [HugePedia]
ClinGenASXL2
Clinical trials, drugs, therapy
MyCancerGenomeASXL2
Protein Interactions : CTDASXL2
Pharm GKB GenePA134884863
PharosQ76L83
Clinical trialASXL2
Miscellaneous
canSAR (ICR)ASXL2
HarmonizomeASXL2
DataMed IndexASXL2
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXASXL2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:00:22 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.