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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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FOXI2
forkhead box I2
Chromosome 10 · 10q26.2
NCBI Gene: 399823Ensembl: ENSG00000186766.8HGNC: HGNC:32448UniProt: Q6ZQN5
6PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specificanatomical structure morphogenesiscell differentiationneurodegenerative diseaseulcerative colitisocular hypotensioncarotid artery disease
✦AI Summary

FOXI2 (forkhead box I2) is a transcription factor that functions as a DNA-binding regulatory protein with roles in development and disease. During embryonic development, FOXI2 is expressed in the chordamesoderm during early somitogenesis and later in the retina and pharyngeal arches 1. The protein localizes to the basal cell layer of skin and co-localizes with P63, suggesting involvement in ectodermal development 2. FOXI2 appears to function as part of an evolutionary-conserved ionocyte signature, being expressed alongside FOXI1 and other markers in specialized salivary gland cells that regulate ionic modification of saliva 3. In disease contexts, FOXI2 promoter hypermethylation serves as a biomarker in multiple cancers. It is methylated in >50% of colorectal cancers and shows very low methylation in peripheral blood, making it suitable for blood-based diagnostic markers 4. FOXI2 methylation is also associated with oral cancer development, where patients with high FOXI2 promoter methylation have worse cancer-free survival 5. Additionally, FOXI2 methylation-based models show prognostic value in kidney renal clear cell carcinoma 6 and esophageal adenocarcinoma 7. A de novo FOXI2 deletion has been associated with ectodermal dysplasia features 2.

Sources cited
1
FOXI2 expression in chordamesoderm, retina, and pharyngeal arches during zebrafish development
PMID: 14579370
2
FOXI2 localization in basal skin layer, co-localization with P63, and association with ectodermal dysplasia
PMID: 29165300
3
FOXI2 as part of ionocyte signature in salivary glands
PMID: 35417692
4
FOXI2 hypermethylation in >50% of colorectal cancers and suitability as blood-based biomarker
PMID: 24485021
5
FOXI2 promoter methylation association with worse oral cancer-free survival
PMID: 26342026
6
FOXI2 inclusion in methylation-based prognostic model for kidney renal clear cell carcinoma
PMID: 32633782
7
FOXI2 as part of prognostic risk model in esophageal adenocarcinoma
PMID: 34222478
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
ulcerative colitisOpen Targets
0.32Weak
ocular hypotensionOpen Targets
0.31Weak
carotid artery diseaseOpen Targets
0.30Weak
tooth diseaseOpen Targets
0.24Weak
sign or symptomOpen Targets
0.23Weak
poisoningOpen Targets
0.19Weak
response to xenobiotic stimulusOpen Targets
0.19Weak
response to antibioticOpen Targets
0.16Weak
response to stimulusOpen Targets
0.15Weak
adverse effectOpen Targets
0.13Weak
renal osteodystrophyOpen Targets
0.13Weak
systemic lupus erythematosusOpen Targets
0.09Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.08Suggestive
MODYOpen Targets
0.07Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.05Suggestive
3-hydroxy-3-methylglutaryl-CoA synthase deficiencyOpen Targets
0.05Suggestive
glomerulonephritisOpen Targets
0.05Suggestive
hyperproinsulinemiaOpen Targets
0.05Suggestive
Down syndromeOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FOXD4Shared pathway100%FOXD2Shared pathway100%FOXQ1Shared pathway100%FOXD4L1Shared pathway100%FOXD4L3Shared pathway100%FOXD4L4Shared pathway100%
Tissue Expression6 tissues
Heart
100%
Ovary
15%
Lung
12%
Bone Marrow
3%
Liver
0%
Brain
0%
Gene Interaction Network
Click a node to explore
FOXI2FOXD4FOXD2FOXQ1FOXD4L1FOXD4L3FOXD4L4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6ZQN5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.94LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.61 [1.08–1.94]
RankingsWhere FOXI2 stands among ~20K protein-coding genes
  • #18,081of 20,598
    Most Researched6
  • #17,616of 17,882
    Most Constrained (LOEUF)1.94
Genes detectedFOXI2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Expression and phylogenetic analyses of three zebrafish FoxI class genes.
PMID: 14579370
Dev Dyn · 2003
1.00
2
New DNA methylation markers and global DNA hypomethylation are associated with oral cancer development.
PMID: 26342026
Cancer Prev Res (Phila) · 2015
0.90
3
FOXI2: a possible gene contributing to ectodermal dysplasia.
PMID: 29165300
Eur J Dermatol · 2017
0.80
4
Novel prognostic prediction model constructed through machine learning on the basis of methylation-driven genes in kidney renal clear cell carcinoma.
PMID: 32633782
Biosci Rep · 2020
0.70
5
Identification of Prognostic Risk Model Based on DNA Methylation-Driven Genes in Esophageal Adenocarcinoma.
PMID: 34222478
Biomed Res Int · 2021
0.60