ASXL2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | ASXL2 |
| Official Name | ASXL transcriptional regulator 2 [Source:HGNC Symbol;Acc:HGNC:23805] |
| Ensembl ID | ENSG00000143970 |
| Bio databases IDs | |
| Aliases | ASXL transcriptional regulator 2 |
| Synonyms | 4930556B16RIK, ASXH2, ASXL transcriptional regulator 2, mKIAA1685, SHAPNS |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ASXL2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- peroxisome proliferator activated receptor binding
- HB1, ASXL, restriction endonuclease HTH domain
- DEUBAD_NFRKB
- PHD domain of transcriptional enhancer, Asx
- chromatin binding
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- precursor B-cell acute lymphoblastic leukemia
- tumorigenesis
- metastasis
- acute myeloid leukemia
- neuroblastoma
- Shashi-Pena syndrome
- neuroblastoma formation
- syndromic mental retardation
- T acute lymphoblastic leukemia
- gout
role in cell
- expression in
- binding in
- differentiation
- adipogenesis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- Nucleus
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ASXL2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of peroxisome proliferator activated receptor signaling pathway
- positive regulation of fat cell differentiation
- positive regulation of transcription from RNA polymerase II promoter
- organ morphogenesis
Cellular Component
Where in the cell the gene product is active
- PR-DUB complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- metal ion binding
- chromatin binding
- peroxisome proliferator activated receptor binding