ASH2L Gene Summary [Human]
Enables beta-catenin binding activity and transcription cis-regulatory region binding activity. Contributes to histone methyltransferase activity (H3-K4 specific). Involved in histone H3-K4 methylation; positive regulation of cell population proliferation; and response to estrogen. Acts upstream of or within cellular response to DNA damage stimulus. Located in nucleus. Part of MLL3/4 complex and Set1C/COMPASS complex. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | ASH2L |
| Official Name | ASH2 like, histone lysine methyltransferase complex subunit [Source:HGNC Symbol;Acc:HGNC:744] |
| Ensembl ID | ENSG00000129691 |
| Bio databases IDs | |
| Aliases | ASH2 like, histone lysine methyltransferase complex subunit |
| Synonyms | ASH2, ASH2L1, ASH2L2, ASH2 like histone lysine methyltransferase complex subunit, ASH2 like, histone lysine methyltransferase complex subunit, Bre2 |
| 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 ASH2L often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- histone lysine N-methyltransferase activity (H3-K4 specific)
- SPRY domain
- double-stranded DNA binding
- beta-catenin binding
- nucleic acid binding
- PHD finger superfamily
- protein binding
- sequence-specific DNA binding
Pathways
Biological processes and signaling networks where the ASH2L gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- breast carcinoma
- epithelial cancer
- metastasis
- pulmonary hypertension
- liver cancer
- uterine leiomyoma
- leiomyomatosis
- hepatocellular carcinoma
- venous thromboembolism
role in cell
- expression in
- migration
- proliferation
- accumulation in
- assembly
- invasion by
- trimethylation in
- degradation in
- assembly in
- DNA damage response
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- interchromatin granule cluster fractions
- nuclear fraction
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ASH2L gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to estrogen stimulus
- positive regulation of gene expression, epigenetic
- hemopoiesis
- positive regulation of cell proliferation
- positive regulation of transcription from RNA polymerase II promoter
- response to DNA damage stimulus
Cellular Component
Where in the cell the gene product is active
- Set1C/COMPASS complex
- nucleus
- euchromatin
- histone methyltransferase complex
- MLL1 complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- transcription regulatory region sequence-specific DNA binding
- beta-catenin binding