FOXB1 Gene: Forkhead Box B1
Transcriptional regulator involved in brain development and cancer
Gene Information Card
| Symbol | FOXB1 |
|---|---|
| Full Name | forkhead box B1 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q22.2 |
| NCBI Gene ID | 27023 ncbi.nlm.nih.gov/gene/27023 |
| Ensembl ID | ENSG00000171956 |
| UniProt ID | Q99853 |
| OMIM ID | 601094 |
| HGNC ID | 3808 |
| Aliases | Fkh5, HFKH-5, Mf3 |
Description
FOXB1 (forkhead box B1) is a transcription factor belonging to the forkhead family, characterized by a conserved forkhead DNA-binding domain. It plays a critical role in the development of the central nervous system, particularly in the midbrain and cerebellum. FOXB1 regulates cell proliferation, differentiation, and migration during embryogenesis. Postnatally, it is involved in maintaining neural stem cell populations. Dysregulation of FOXB1 has been implicated in various cancers, including medulloblastoma and breast cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Medulloblastoma | FOXB1 is a direct target of the Sonic Hedgehog (SHH) pathway; overexpression promotes tumor growth | PMID: 23583978 |
| Breast Cancer | FOXB1 expression is associated with poor prognosis and may regulate estrogen receptor signaling | PMID: 25620006 |
| Intellectual Disability | De novo missense variants in FOXB1 have been reported in patients with neurodevelopmental disorders | PMID: 28135719 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Cerebellum | 18.3 | High |
| Testis | 3.2 | Low |
| Lung | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| DAOY (medulloblastoma) | 45.2 | High expression; SHH-subtype |
| MCF7 (breast cancer) | 8.7 | Moderate expression |
| HEK293 (embryonic kidney) | 0.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.947G>A (p.Arg316Gln) | Missense | Rare | Loss of DNA-binding affinity; associated with intellectual disability |
| c.112C>T (p.Arg38Trp) | Missense | Rare | Reduced transcriptional activity; reported in neurodevelopmental disorder |
| Amplification (15q22.2) | Copy number gain | Frequent in medulloblastoma | Increased FOXB1 expression; drives SHH-subtype tumorigenesis |
Mutation functional classification
Loss of Function (LOF)
Missense variants in the forkhead domain (e.g., p.Arg316Gln) impair DNA binding and transcriptional activation, leading to neurodevelopmental phenotypes.
Gain of Function (GOF)
Gene amplification and overexpression in medulloblastoma result in enhanced SHH pathway signaling and tumor proliferation.
Dominant Negative (DN)
Not reported for FOXB1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Hedgehog signaling pathway (Reactome: R-HSA-5358351)
• Developmental biology (Reactome: R-HSA-1266738)
Protein Summary
FOXB1 is a 499-amino acid transcription factor containing a forkhead DNA-binding domain. It binds to DNA sequences containing the core motif 5'-RYMAAYA-3'. The protein is predominantly nuclear and regulates genes involved in cell cycle progression, neuronal differentiation, and migration. Post-translational modifications include phosphorylation, which modulates its activity. FOXB1 interacts with other transcription factors such as GLI1 in the SHH pathway.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FOXB1 Knockout HEK293 Cell Line | EDJ-KQ8647 | Human | 27023 | Details Get a Quote |
| FOXB1 Knockout HeLa Cell Line | EDJ-KQ55986 | Human | 27023 | Details Get a Quote |
| FOXB1 Knockout A-549 Cell Line | EDJ-KQ64470 | Human | 27023 | Details Get a Quote |
| FOXB1 Knockout HCT 116 Cell Line | EDJ-KQ72928 | Human | 27023 | Details Get a Quote |
