ASCL5 (Achaete-Scute Family BHLH Transcription Factor 5)
Basic helix-loop-helix transcription factor involved in neurogenesis and cancer
Gene Information Card
| Symbol | ASCL5 |
|---|---|
| Full Name | achaete-scute family bHLH transcription factor 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 100507436 ncbi.nlm.nih.gov/gene/100507436 |
| Ensembl ID | ENSG00000214595 |
| UniProt ID | Q7L3V2 |
| OMIM ID | 616456 |
| HGNC ID | 34499 |
| Aliases | bHLHa47, ASH5, HASH5 |
Description
ASCL5 (achaete-scute family bHLH transcription factor 5) is a protein-coding gene that encodes a basic helix-loop-helix (bHLH) transcription factor. It is a member of the achaete-scute complex family, which plays a key role in neurogenesis and cell fate determination. ASCL5 is expressed in the nervous system and has been associated with neuroblastoma and other cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuroblastoma | ASCL5 may act as an oncogene by promoting neural crest cell proliferation and inhibiting differentiation; overexpression observed in neuroblastoma cell lines. | PubMed: 23434518 |
| Lung cancer | ASCL5 expression is upregulated in small cell lung cancer (SCLC) and may contribute to neuroendocrine differentiation. | PubMed: 28424480 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.2 | Low |
| Lung | 0.1 | Low |
| Testis | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 0.5 | Detected in neuroblastoma cell lines |
| NCI-H69 (SCLC) | 0.8 | Upregulated in small cell lung cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Unknown functional effect |
| c.100C>T | Nonsense | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
Not well characterized; overexpression in cancer suggests possible gain-of-function role.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Notch signaling pathway
• Neuronal differentiation
Protein Summary
ASCL5 is a 196-amino acid basic helix-loop-helix transcription factor that binds to E-box DNA sequences to regulate gene expression. It is involved in neuronal development and differentiation. The protein is localized to the nucleus and is expressed at low levels in normal tissues but upregulated in certain cancers, particularly neuroblastoma and small cell lung cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASCL5 Knockout HEK293 Cell Line | EDJ-KQ12454 | Human | 647219 | Details Get a Quote |
| ASCL5 Knockout HeLa Cell Line | EDJ-KQ60622 | Human | 647219 | Details Get a Quote |
| ASCL5 Knockout A-549 Cell Line | EDJ-KQ69093 | Human | 647219 | Details Get a Quote |
| ASCL5 Knockout HCT 116 Cell Line | EDJ-KQ77446 | Human | 647219 | Details Get a Quote |
