ASCL2 Gene Summary [Human]
This gene is a member of the basic helix-loop-helix (BHLH) family of transcription factors. It activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. Involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ASCL2 |
| Official Name | achaete-scute family bHLH transcription factor 2 [Source:HGNC Symbol;Acc:HGNC:739] |
| Ensembl ID | ENSG00000183734 |
| Bio databases IDs | |
| Aliases | achaete-scute family bHLH transcription factor 2 |
| Synonyms | 2410083I15Rik, achaete-scute family bHLH transcription factor 2, ASH2, bHLHa45, HASH2, MASH2 |
| 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 ASCL2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- nucleic acid binding
- double-stranded DNA binding
- basic Helix Loop Helix (bHLH) domain superfamily
- helix loop helix domain
- transcription factor binding
- sequence-specific DNA binding
- transcription factor activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- osteoporosis
- colon cancer
- severe combined immunodeficiency
- head and neck neoplasia
role in cell
- expression in
- proliferation
- differentiation
- self-renewal capacity
- migration by
- maintenance
- quantity
- autophagic flux in
- G2/M phase transition
- autophagy 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.
- Nucleus
- Cytoplasm
- perinuclear space
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ASCL2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of T-helper 2 cell differentiation
- neuron differentiation
- spongiotrophoblast layer development
- positive regulation of transcription from RNA polymerase II promoter
- placenta development
- negative regulation of T-helper 1 cell differentiation
- sensory organ development
- negative regulation of transcription from RNA polymerase II promoter
- positive regulation of T cell migration
- response to hypoxia
- negative regulation of Schwann cell proliferation
- chorionic trophoblast cell development
- somatic stem cell maintenance
- negative regulation of T-helper 17 cell differentiation
- regulation of neurogenesis
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- chromatin
Molecular Function
What the gene product does at the molecular level
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- protein dimerization activity
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- bHLH transcription factor binding
- E-box binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity