FOXJ1
Forkhead Box J1: Master Regulator of Ciliogenesis and Motile Cilia Function
Gene Information Card
| Symbol | FOXJ1 |
|---|---|
| Full Name | Forkhead Box J1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 17q25.1 |
| NCBI Gene ID | 2302 ncbi.nlm.nih.gov/gene/2302 |
| Ensembl ID | ENSG00000129654 |
| UniProt ID | Q92949 |
| OMIM ID | 602291 |
| HGNC ID | 3816 |
| Aliases | FKHL13, HFH-4, HFH4 |
Description
FOXJ1 encodes a forkhead box transcription factor essential for the formation and function of motile cilia. It regulates genes involved in ciliary assembly, axonemal dynein arm components, and left-right axis determination. Loss-of-function mutations cause primary ciliary dyskinesia (PCD) with situs inversus and hydrocephalus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Loss-of-function mutations disrupt motile cilia formation, impairing mucociliary clearance and causing respiratory infections, infertility, and situs inversus. | ClinVar, OMIM |
| Congenital Hydrocephalus | FOXJ1 deficiency impairs ependymal cilia, leading to impaired cerebrospinal fluid flow and ventricular enlargement. | OMIM, NCBI |
| Heterotaxy Syndrome | Disrupted left-right patterning due to defective nodal cilia function. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 47.6 | High |
| Lung | 25.3 | High |
| Fallopian Tube | 20.1 | High |
| Brain | 8.2 | Medium |
| Kidney | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung) | 12.5 | Moderate expression |
| HepG2 (Liver) | 0.8 | Low expression |
| K562 (Leukemia) | 0.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1054C>T (p.Arg352*) | Nonsense | Rare | Loss of function; truncation of DNA-binding domain |
| c.832G>A (p.Gly278Arg) | Missense | Rare | Impaired DNA binding and transcriptional activity |
| c.1175_1176del (p.Glu392Valfs*2) | Frameshift | Rare | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations that abolish FOXJ1 protein function, leading to ciliary defects.
Gain of Function (GOF)
Not reported in FOXJ1.
Dominant Negative (DN)
Not reported; FOXJ1 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • regulation of transcription by RNA polymerase II |
| • cilium assembly | • motile cilium |
| • left/right axis specification | • cell differentiation |
Pathways
• Ciliogenesis
• Hedgehog signaling (indirect)
• Left-right axis determination
Protein Summary
FOXJ1 is a 421-amino acid transcription factor containing a forkhead DNA-binding domain. It localizes to the nucleus and activates expression of ciliary genes, including those encoding axonemal dyneins and radial spoke proteins. Essential for motile cilia biogenesis in respiratory epithelium, ependyma, and embryonic node.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FOXJ1 Knockout HEK293 Cell Line | EDJ-KQ4606 | Human | 2302 | Details Get a Quote |
| FOXJ1 Knockout HeLa Cell Line | EDJ-KQ53245 | Human | 2302 | Details Get a Quote |
| FOXJ1 Knockout A-549 Cell Line | EDJ-KQ61726 | Human | 2302 | Details Get a Quote |
| FOXJ1 Knockout HCT 116 Cell Line | EDJ-KQ70211 | Human | 2302 | Details Get a Quote |
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