FOXJ1

Chr 17q25.1

forkhead box J1

Aliases:: HFH-4, HFH4
MANE:: ENST00000322957.7

OMIM: 602291 ↗NCBI: 2302 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

FOXJ1 · Q92949

v62025-08-01

Predicted Aligned Error matrix for FOXJ1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

58.1/ 100

Low

421 residues

Confidence breakdown

Very high(≥ 90)18%
Confident(70–90)10%
Low(50–70)19%
Very low(< 50)54%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Laterality disorders and isomerism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Respiratory ciliopathies including non-CF bronchiectasis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

ciliary dyskinesia, primary, 43
0.71
Hydrocephalus
0.39
primary ciliary dyskinesia
0.39
vitiligo
0.21
hereditary disease
0.19
allergic rhinitis
0.19
Heterotaxia
0.09
atrial septal defect
0.08
atrial septal defect 1
0.07
Rare familial disorder with hypertrophic cardiomyopathy
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Forkhead box protein J1

Transcription factor specifically required for the formation of motile cilia (PubMed:31630787). Acts by activating transcription of genes that mediate assembly of motile cilia, such as CFAP157. Binds the DNA consensus sequences 5'-HWDTGTTTGTTTA-3' or 5'-KTTTGTTGTTKTW-3' (where H is not G, W is A or T, D is not C, and K is G or T). Activates the transcription of a variety of ciliary proteins in the developing brain and lung