FOXI3

Chr 2p11.2

forkhead box I3

MANE:: ENST00000428390.3

OMIM: 612351 ↗NCBI: 344167 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

FOXI3 · A8MTJ6

v62025-08-01

Predicted Aligned Error matrix for FOXI3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

57.4/ 100

Low

420 residues

Confidence breakdown

Very high(≥ 90)16%
Confident(70–90)6%
Low(50–70)23%
Very low(< 50)55%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Deafness and congenital structural abnormalities
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

craniofacial microsomia 2
0.58
Abnormality of the ear
0.46
craniofacial microsomia
0.42
tooth agenesis
0.38
neurodegenerative disease
0.35
hereditary disease
0.19
Aplasia/Hypoplasia of the thymus
0.18
hypothyroidism
0.15
hair color
0.14
pulmonary vascular congestion
0.13

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

Protein function (UniProt)

Forkhead box protein I3

Transcription factor required for pharyngeal arch development, which is involved in hair, ear, jaw and dental development (PubMed:37041148). May act as a pioneer transcription factor during pharyngeal arch development (By similarity). Required for epithelial cell differentiation within the epidermis (By similarity). Acts at multiple stages of otic placode induction: necessary for preplacodal ectoderm to execute an inner ear program (By similarity). Required for hair follicle stem cell specification (By similarity). Acts downstream of TBX1 for the formation of the thymus and parathyroid glands from the third pharyngeal pouch (By similarity)