ASCL3
Achaete-Scute Family BHLH Transcription Factor 3
Gene Information Card
| Symbol | ASCL3 |
|---|---|
| Full Name | achaete-scute family bHLH transcription factor 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.3 |
| NCBI Gene ID | 429 ncbi.nlm.nih.gov/gene/429 |
| Ensembl ID | ENSG00000175467 |
| UniProt ID | Q9NQ33 |
| OMIM ID | 606882 |
| HGNC ID | 739 |
| Aliases | HASH3, bHLHa43 |
Description
ASCL3 (achaete-scute family bHLH transcription factor 3) is a protein-coding gene located on chromosome 11p15.3. It belongs to the basic helix-loop-helix (bHLH) family of transcription factors, which are key regulators of cell fate determination and differentiation, particularly in neural and endocrine tissues. ASCL3 is expressed in the developing nervous system and in certain adult tissues, and its dysregulation has been implicated in cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung cancer | ASCL3 overexpression may promote neuroendocrine differentiation in lung tumors, contributing to tumor progression. | PMID: 23431171 |
| Breast cancer | ASCL3 expression is associated with basal-like subtype and poor prognosis, potentially through regulation of stem cell-like properties. | PMID: 25652252 |
| Neuroblastoma | ASCL3 is involved in neuronal differentiation; altered expression may affect tumor cell differentiation status. | PMID: 17344889 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 0.8 | Low |
| Brain | 0.5 | Low |
| Testis | 0.3 | Low |
| Thyroid | 0.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NCI-H82 (small cell lung cancer) | 1.2 | Neuroendocrine lineage |
| MCF7 (breast cancer) | 0.4 | Low expression |
| SH-SY5Y (neuroblastoma) | 0.6 | Neuronal differentiation model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.1% | Potential loss of start codon, uncertain significance |
| c.100C>T (p.Arg34Trp) | missense | <0.1% | Rare variant, unknown effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Notch signaling pathway (Reactome: R-HSA-157118)
• Developmental Biology (Reactome: R-HSA-1266738)
Protein Summary
ASCL3 encodes a 196-amino acid protein containing a basic helix-loop-helix (bHLH) domain. It functions as a transcription factor that binds to E-box motifs (CANNTG) in target gene promoters, regulating gene expression involved in neural and endocrine cell differentiation. The protein is predominantly nuclear and interacts with other bHLH factors to form heterodimers. Its expression is tightly regulated during development, and aberrant expression is linked to tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASCL3 Knockout HEK293 Cell Line | EDJ-KQ12453 | Human | 56676 | Details Get a Quote |
| ASCL3 Knockout HeLa Cell Line | EDJ-KQ56751 | Human | 56676 | Details Get a Quote |
| ASCL3 Knockout A-549 Cell Line | EDJ-KQ65254 | Human | 56676 | Details Get a Quote |
| ASCL3 Knockout HCT 116 Cell Line | EDJ-KQ73695 | Human | 56676 | Details Get a Quote |
