FOXJ3
Forkhead Box J3: A Transcriptional Regulator in Development and Disease
Gene Information Card
| Symbol | FOXJ3 |
|---|---|
| Full Name | Forkhead Box J3 |
| Gene Type | Protein-coding |
| Chromosomal Location | 1p34.2 |
| NCBI Gene ID | 22887 ncbi.nlm.nih.gov/gene/22887 |
| Ensembl ID | ENSG00000198815 |
| UniProt ID | Q9UPW0 |
| OMIM ID | 616168 |
| HGNC ID | 24807 |
| Aliases | KIAA1041, MGC138290 |
Description
FOXJ3 (Forkhead Box J3) is a member of the forkhead box (FOX) family of transcription factors, characterized by a conserved forkhead DNA-binding domain. FOXJ3 is involved in the regulation of gene expression during embryonic development, cell cycle control, and differentiation. It has been implicated in various cellular processes including proliferation, apoptosis, and migration. Alterations in FOXJ3 expression or function have been associated with several cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | FOXJ3 overexpression may promote cell proliferation and invasion through transcriptional activation of target genes. | COSMIC, ClinVar |
| Lung Cancer | FOXJ3 mutations and altered expression levels have been observed in non-small cell lung cancer, potentially affecting tumor growth. | COSMIC, ClinVar |
| Colorectal Cancer | FOXJ3 copy number gains and increased expression are reported, suggesting an oncogenic role. | COSMIC |
| Developmental Disorders | FOXJ3 variants have been linked to neurodevelopmental phenotypes, including intellectual disability. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Breast | 5.4 | Low |
| Colon | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (Breast cancer) | 10.3 | High expression |
| A549 (Lung cancer) | 7.8 | Moderate expression |
| HCT116 (Colorectal cancer) | 6.5 | Moderate expression |
| HEK293 (Embryonic kidney) | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.1% | Unknown functional effect; reported in ClinVar |
| c.567G>A (p.Gly189Arg) | Missense | <0.1% | Likely benign |
| c.890_891insA (p.Thr297fs) | Frameshift | <0.1% | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No confirmed gain-of-function mutations have been reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • regulation of transcription by RNA polymerase II |
| • nucleus | • forkhead box domain binding |
| • cell differentiation |
Pathways
• Transcriptional regulation by FOX family members
• Cell cycle control
Protein Summary
FOXJ3 is a 696-amino acid protein containing a forkhead DNA-binding domain. It localizes to the nucleus and regulates transcription of target genes involved in development and cell proliferation. The protein interacts with other transcription factors and co-regulators to modulate gene expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FOXJ3 Knockout HEK293 Cell Line | EDJ-KQ7717 | Human | 22887 | Details Get a Quote |
| FOXJ3 Knockout A-549 Cell Line | EDJ-KQ33124 | Human | 22887 | Details Get a Quote |
| FOXJ3 Knockout HCT 116 Cell Line | EDJ-KQ33125 | Human | 22887 | Details Get a Quote |
| FOXJ3 Knockout HeLa Cell Line | EDJ-KQ33126 | Human | 22887 | Details Get a Quote |
