ASXL2

Summary: 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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
NameASXL transcriptional regulator 2
OMIM IDMIM:612991
Ensembl IDEnsembl:ENSG00000143970
HGNC IDHGNC:HGNC:23805
PHARMGKB IDPA134884863
Map Location2p23.3

Gene Categories:

CLINICALLY ACTIONABLE

GO terms in ASXL2


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Term Type
Evidence Type
GO Term ID
GO Des.
CC IBA GO:0000790 nuclear chromatin
CC IBA GO:0005634 nucleus
CC IDA GO:0005654 nucleoplasm
CC TAS GO:0005654 nucleoplasm
CC IBA GO:0035517 PR-DUB complex
BP IEA GO:0006351 transcription, DNA-templated
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Gene expression in normal tissue: ASXL2

16 tissues mixtureadiposeadrenalbrainbreastcolonheartkidneyliverlunglymph nodeovaryprostateskeletal muscletestesthyroidwhite blood cells

Gene-model tissue-cancer distribution: Bubble Plot

BOWEtissue: BOWE cancer: BOWEL model num: 0BOWELtissue: BOWEL cancer: Colorectal Adenocarcinoma (COADREAD) model num: 2LYMPtissue: LYMP cancer: LYMPH model num: 0LYMPHtissue: LYMPH cancer: Diffuse Large B-Cell Lymphoma (DLBCL) model num: 21

Gene-drug pathway distribution

Chromatin histone acetylation7Other, kinases6PI3K/MTOR signaling3RTK signaling2VEGF signaling pathway1ERK MAPK signaling1DNA replication1undefined1

Pathways in ASXL2


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Database
Pathway ID
Pathway Des.
reactome R-HSA-392499 Metabolism of proteins
reactome R-HSA-5688426 Deubiquitination
reactome R-HSA-5689603 UCH proteinases
reactome R-HSA-597592 Post-translational protein modification
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD935 JQ12 1
iGMDRD42 Vorinostat 1
iGMDRD506 Fedratinib 1
iGMDRD366 PI-103 1
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in ASXL2

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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