ASXL2
ASXL2 (Putative Polycomb group protein ASXL2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Bladder & urothelial cancer and Acute myeloid leukaemia.
Overview
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.
Open Targets scores its association with cancer at 0.55 (direct and indirect evidence; datatypes literature 0.94, genetic association 0.08, somatic mutation 0.70). IntOGen calls it a driver in 3 cohorts (0 activating, 3 loss-of-function), covering Acute Myeloid Leukaemia, Bladder Urothelial Carcinoma.
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · ASXL2 (Putative Polycomb group protein ASXL2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Bladder & urothelial cancer and Acute myeloid leukaemia.
- 1 · What it is
ASXL2 (Putative Polycomb group protein ASXL2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Bladder & urothelial cancer and Acute myeloid leukaemia.
- 2 · What goes wrong in cancer
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.
- 3 · How drugs use it
No product in this corpus aims at ASXL2 yet. Because the protein is lost rather than overactive, drugs either restore its function or exploit the weakness its loss leaves (synthetic lethality).
External identifiers
Sources: HGNC HGNC:23805 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q76L83 (protein name, function text, keywords and locations (REST API)); Open Targets ENSG00000143970 (association with cancer (MONDO_0004992) 0.55; (GraphQL API, CC0)); IntOGen ASXL2 (driver in 3 cohorts (Act 0, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Biology
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. 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. Location: Nucleus (UniProt). Locus 2p23.3 (HGNC).
- Bladder & urothelial cancer: IntOGen driver in 2 cohorts (BLCA)
- Acute myeloid leukaemia: IntOGen driver in 1 cohort (AML)
Notes
top- Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier "cohort-driver" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.
Latest papers
topQuery for this target: (TITLE:"ASXL2" OR ABSTRACT:"ASXL2" OR TITLE:"ASXL transcriptional regulator 2" OR ABSTRACT:"ASXL transcriptional regulator 2" OR TITLE:"Putative Polycomb group protein ASXL2" OR ABSTRACT:"Putative Polycomb group protein ASXL2" OR TITLE:"ASXH2" OR ABSTRACT:"ASXH2" OR TITLE:"FLJ10898" OR ABSTRACT:"FLJ10898" OR TITLE:"KIAA1685" OR ABSTRACT:"KIAA1685") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about ASXL2, not a curated reading list.