FOXJ1 Chromosome 17
Forkhead box J1
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What This Gene Does
This gene encodes a member of the forkhead family of transcription factors. Similar genes in zebrafish and mouse have been shown to regulate the transcription of genes that control the production of motile cilia. The mouse ortholog also functions in the determination of left-right asymmetry. Polymorphisms in this gene are associated with systemic lupus erythematosus and allergic rhinitis.[provided by RefSeq, Sep 2009]
Gene Info
Gene Group
Forkhead boxes
Locus Type
gene with protein product
Location
17q25.1
Ensembl
ENSG00000129654
Associated Conditions (5)
Ciliary dyskinesia
primary
43
Inborn genetic diseases
FOXJ1-related disorder
Key Variants
RS202087312
Conflicting classifications of pathogenicity
Ciliary dyskinesia, primary, 43
Health Risk
RS2509838414
Likely pathogenic
Ciliary dyskinesia, primary, 43
Health Risk
RS2509838550
Likely pathogenic
FOXJ1-related disorder, FOXJ1-related disorder
Health Risk
RS1598372791
Pathogenic
Ciliary dyskinesia, primary, 43
Health Risk
RS1598372830
Pathogenic
Ciliary dyskinesia, primary, 43
Health Risk
RS1598372841
Pathogenic
Ciliary dyskinesia, primary, 43
Health Risk
RS1598372878
Pathogenic
Ciliary dyskinesia, primary, 43
Health Risk
RS2144761991
Pathogenic
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS202087312 | Health Risk | Conflicting classifications of pathogenicity | Ciliary dyskinesia, primary, 43 |
| RS2509838414 | Health Risk | Likely pathogenic | Ciliary dyskinesia, primary, 43 |
| RS2509838550 | Health Risk | Likely pathogenic | FOXJ1-related disorder, FOXJ1-related disorder |
| RS1598372791 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 43 |
| RS1598372830 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 43 |
| RS1598372841 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 43 |
| RS1598372878 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 43 |
| RS2144761991 | Health Risk | Pathogenic | — |