ASCL4 (Achaete-Scute Family BHLH Transcription Factor 4)
Basic helix-loop-helix transcription factor involved in neuronal development and potential roles in cancer
Gene Information Card
| Symbol | ASCL4 |
|---|---|
| Full Name | achaete-scute family bHLH transcription factor 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q23.3 |
| NCBI Gene ID | 121549 ncbi.nlm.nih.gov/gene/121549 |
| Ensembl ID | ENSG00000174469 |
| UniProt ID | Q9NQ33 |
| OMIM ID | 612779 |
| HGNC ID | 13868 |
| Aliases | bHLHa44, HASH4, ASH4 |
Description
ASCL4 (achaete-scute family bHLH transcription factor 4) is a protein-coding gene that encodes a basic helix-loop-helix (bHLH) transcription factor. It is part of the achaete-scute complex family, which plays key roles in neuronal development and differentiation. ASCL4 is involved in regulating gene expression during neurogenesis and has been implicated in certain cancers, though its precise functions are still under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Potential role in tumorigenesis through transcriptional dysregulation; limited evidence | COSMIC; literature |
| Lung cancer | Altered expression observed; mechanism unclear | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Breast | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 0.0 | No detectable expression in RNA-seq |
| A549 (lung cancer) | 0.0 | No detectable expression in RNA-seq |
| HEK293 (embryonic kidney) | 0.0 | No detectable expression in RNA-seq |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.1% | Unknown |
| c.100C>T | nonsense | <0.1% | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.100C>T) are predicted to result in truncated protein and loss of function.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Protein Summary
The ASCL4 protein (UniProt Q9NQ33) is a 197-amino acid transcription factor containing a basic helix-loop-helix (bHLH) domain. It binds to E-box sequences (CANNTG) to regulate transcription. Its expression is low in most adult tissues, suggesting a role primarily in development. Structural predictions indicate a nuclear localization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASCL4 Knockout HEK293 Cell Line | EDJ-KQ3781 | Human | 121549 | Details Get a Quote |
| ASCL4 Knockout HeLa Cell Line | EDJ-KQ58088 | Human | 121549 | Details Get a Quote |
| ASCL4 Knockout A-549 Cell Line | EDJ-KQ66575 | Human | 121549 | Details Get a Quote |
| ASCL4 Knockout HCT 116 Cell Line | EDJ-KQ74991 | Human | 121549 | Details Get a Quote |
