FOXI1

Chr 5q35.1

forkhead box I1

Aliases:: FREAC6
MANE:: ENST00000306268.8

OMIM: 601093 ↗NCBI: 2299 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

FOXI1 · Q12951

v62025-08-01

Predicted Aligned Error matrix for FOXI1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

59.1/ 100

Low

378 residues

Confidence breakdown

Very high(≥ 90)18%
Confident(70–90)9%
Low(50–70)26%
Very low(< 50)48%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomal
Deafness and congenital structural abnormalities
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

autosomal recessive nonsyndromic hearing loss 4
0.58
Pendred syndrome
0.49
hearing loss disorder
0.37
Enlarged vestibular aqueduct
0.37
autosomal recessive distal renal tubular acidosis
0.37
Sensorineural hearing impairment
0.31
Hearing impairment
0.30
deafness
0.20
renal tubular acidosis
0.19
breast carcinoma
0.14

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

Protein function (UniProt)

Forkhead box protein I1

Transcriptional activator required for the development of normal hearing, sense of balance and kidney function. Required for the expression of SLC26A4/PDS, JAG1 and COCH in a subset of epithelial cells and the development of the endolymphatic system in the inner ear. Also required for the expression of SLC4A1/AE1, SLC4A9/AE4, ATP6V1B1 and the differentiation of intercalated cells in the epithelium of distal renal tubules (By similarity)