OLIG3: Oligodendrocyte Transcription Factor 3
A basic helix-loop-helix transcription factor involved in neural development and associated with congenital central hypoventilation syndrome
Gene Information Card
| Symbol | OLIG3 |
|---|---|
| Full Name | Oligodendrocyte transcription factor 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q23.3 |
| NCBI Gene ID | 167826 ncbi.nlm.nih.gov/gene/167826 |
| Ensembl ID | ENSG00000177494 |
| UniProt ID | Q7RTU3 |
| OMIM ID | 609323 |
| HGNC ID | 18004 |
| Aliases | bHLHe20, Oligo3 |
Description
OLIG3 (oligodendrocyte transcription factor 3) is a protein-coding gene that belongs to the basic helix-loop-helix (bHLH) family of transcription factors. It plays a critical role in the development of the central nervous system, particularly in the specification of neural progenitor cells and the formation of the dorsal spinal cord. OLIG3 is also involved in the development of the autonomic nervous system. Mutations in OLIG3 have been associated with congenital central hypoventilation syndrome (CCHS), a disorder characterized by autonomic nervous system dysfunction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital central hypoventilation syndrome (CCHS) | Loss-of-function mutations in OLIG3 impair development of autonomic neurons, leading to respiratory control deficits | ClinVar, OMIM |
| Neuroblastoma | OLIG3 expression is altered in neuroblastoma cell lines, suggesting a role in neural crest-derived tumors | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 2.1 | Low |
| Spinal cord | 3.5 | Medium |
| Testis | 0.8 | Not detected |
| Lung | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 4.2 | Moderate expression |
| SK-N-BE(2) (neuroblastoma) | 3.8 | Moderate expression |
| HEK293 (embryonic kidney) | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | Rare | Alters DNA-binding domain, loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations in OLIG3, such as p.Met1? and p.Arg34Trp, are associated with loss of transcription factor activity, leading to impaired neural development.
Gain of Function (GOF)
No gain-of-function mutations have been reported for OLIG3.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for OLIG3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Neural crest differentiation
• Oligodendrocyte specification
• Autonomic nervous system development
Protein Summary
OLIG3 is a 267-amino acid protein containing a basic helix-loop-helix (bHLH) domain that mediates DNA binding and dimerization. It functions as a transcription factor that regulates gene expression during neural development, particularly in the dorsal spinal cord and autonomic ganglia. The protein is localized to the nucleus and acts as a transcriptional activator.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OLIG3 Knockout HEK293 Cell Line | EDJ-KQ2909 | Human | 167826 | Details Get a Quote |
| OLIG3 Knockout HeLa Cell Line | EDJ-KQ58907 | Human | 167826 | Details Get a Quote |
| OLIG3 Knockout A-549 Cell Line | EDJ-KQ67395 | Human | 167826 | Details Get a Quote |
| OLIG3 Knockout HCT 116 Cell Line | EDJ-KQ75789 | Human | 167826 | Details Get a Quote |
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