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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| ASXL transcriptional regulator 2 | MIM:612991 | Ensembl:ENSG00000143970 | HGNC:HGNC:23805 | PA134884863 | 2p23.3 |
Gene Categories:
CLINICALLY ACTIONABLEGO terms in ASXL2
| 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 |
| BP | IBA | GO:0009887 | animal organ morphogenesis |
| BP | TAS | GO:0016579 | protein deubiquitination |
| BP | IDA | GO:0035360 | positive regulation of peroxisome proliferator activated receptor signaling pathway |
| BP | IDA | GO:0045600 | positive regulation of fat cell differentiation |
| BP | IBA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IDA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| MF | IEA | GO:0003677 | DNA binding |
| MF | IBA | GO:0003682 | chromatin binding |
| MF | IBA | GO:0042975 | peroxisome proliferator activated receptor binding |
| MF | IDA | GO:0042975 | peroxisome proliferator activated receptor binding |
| MF | IEA | GO:0046872 | metal ion binding |
Gene expression in normal tissue: ASXL2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ASXL2
| 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 |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD935 | JQ12 | 1 |
| iGMDRD42 | Vorinostat | 1 |
| iGMDRD506 | Fedratinib | 1 |
| iGMDRD366 | PI-103 | 1 |
| iGMDRD758 | JW-7-24-1 | 1 |
| iGMDRD311 | Dacinostat | 1 |
| iGMDRD44 | Temozolomide | 1 |
| iGMDRD388 | YM201636 | 1 |
| iGMDRD558 | CAY10603 | 1 |
| iGMDRD259 | EX-527 | 1 |
| iGMDRD376 | Tivozanib | 1 |
| iGMDRD326 | Belinostat (PXD101) | 2 |
| iGMDRD461 | VX-11e | 1 |
| iGMDRD1018 | TL-1-85 | 1 |
| iGMDRD689 | EX-8678 | 1 |
| iGMDRD696 | NG25 | 1 |
| iGMDRD363 | OSI-930 | 1 |
| iGMDRD239 | Dasatinib | 1 |
| iGMDRD328 | AR-42 | 1 |
| iGMDRD392 | Masitinib | 1 |
| iGMDRD463 | ZSTK 474 | 1 |
| iGMDRD571 | Cabozantinib | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ASXL2
CLASSFICATION
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