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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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FOXI1
forkhead box I1
Chromosome 5 Β· 5q35.1
NCBI Gene: 2299Ensembl: ENSG00000168269.10HGNC: HGNC:3815UniProt: E0XEN6
40PubMed Papers
20Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA polymerase II cis-regulatory region sequence-specific DNA bindingsequence-specific double-stranded DNA bindingpositive regulation of transcription by RNA polymerase IIDNA-binding transcription activator activity, RNA polymerase II-specificautosomal recessive nonsyndromic hearing loss 4Pendred syndromehearing loss, autosomal recessivenonsyndromic genetic hearing loss
✦AI Summary

FOXI1 is a forkhead box transcription factor that functions as a critical regulator of specialized epithelial cell development across multiple organ systems. In the inner ear, FOXI1 drives expression of SLC26A4/PDS, JAG1, and COCH, which are essential for endolymphatic system development and normal hearing and balance function 1. In the kidney, FOXI1 directs differentiation of intercalated cells in distal renal tubules through activation of SLC4A1/AE1, SLC4A9/AE4, and ATP6V1B1, enabling acid-base homeostasis and urinary acidification 23. FOXI1 has recently been identified as the master transcription factor for pulmonary ionocytes in the conducting airway epithelium 45. These rare FOXI1+ ionocytes are the primary source of cystic fibrosis transmembrane conductance regulator (CFTR) expression and mediate critical ion transport functions regulating airway surface liquid pH, volume, and mucus properties 6. FOXI1 knockout in ionocytes abolishes CFTR expression and causes cystic fibrosis-like airway pathology. Pathogenic FOXI1 variants are associated with distal renal tubular acidosis (dRTA) and sensorineural hearing loss with inner ear malformations (DFNB4) 21. Additionally, FOXI1 functions as a master transcription factor in chr5 renal cell carcinoma histogenesis 7.

Sources cited
1
FOXI1 marks pulmonary ionocytes; FOXI1 knockout causes loss of CFTR expression and disrupts airway fluid and mucus physiology characteristic of cystic fibrosis
PMID: 30069044
2
FOXI1 expression is sufficient to drive pulmonary ionocyte production; ionocytes are major source of CFTR in conducting airway epithelium; Notch signaling drives FOXI1 expression
PMID: 30069046
3
FOXI1 variants cause inherited distal renal tubular acidosis; FOXI1 is required for intercalated cell function in acid secretion
PMID: 37016093
4
FOXI1-induced intercalated cells demonstrate V-type ATPase proton pump activity in kidney collecting duct epithelia
PMID: 36038632
5
FOXI1-expressing ionocytes control airway surface liquid absorption, secretion, pH and mucus viscosity through CFTR-dependent ion transport
PMID: 37730992
6
Pathogenic FOXI1 variants are associated with hearing loss and inner ear malformations (DFNB4)
PMID: 36499699
7
FOXI1 is a master transcription factor for chromophobe renal cell carcinoma histology
PMID: 36681680
Disease Associationsβ“˜20
autosomal recessive nonsyndromic hearing loss 4Open Targets
0.58Moderate
Pendred syndromeOpen Targets
0.49Moderate
hearing loss, autosomal recessiveOpen Targets
0.49Moderate
nonsyndromic genetic hearing lossOpen Targets
0.40Weak
hearing lossOpen Targets
0.37Weak
autosomal recessive distal renal tubular acidosisOpen Targets
0.37Weak
Enlarged vestibular aqueductOpen Targets
0.37Weak
sensorineural hearing lossOpen Targets
0.31Weak
Sensorineural hearing impairmentOpen Targets
0.31Weak
Hearing impairmentOpen Targets
0.30Weak
deafnessOpen Targets
0.20Weak
renal tubular acidosisOpen Targets
0.19Weak
breast carcinomaOpen Targets
0.16Weak
self-injurious ideationOpen Targets
0.15Weak
azoospermiaOpen Targets
0.09Suggestive
adverse effectOpen Targets
0.07Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
gestational diabetesOpen Targets
0.07Suggestive
autosomal dominant nonsyndromic hearing lossOpen Targets
0.06Suggestive
hearing loss, autosomal dominant 87Open Targets
0.06Suggestive
Pathogenic Variants5
NM_012188.5(FOXI1):c.638G>T (p.Arg213Leu)Likely pathogenic
Sensorineural hearing loss disorder
β˜…β˜†β˜†β˜†2025β†’ Residue 213
NM_012188.5(FOXI1):c.376T>A (p.Tyr126Asn)Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 4
β˜…β˜†β˜†β˜†2025β†’ Residue 126
NM_012188.5(FOXI1):c.879C>A (p.Ser293Arg)Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 4
β˜…β˜†β˜†β˜†2025β†’ Residue 293
NM_012188.5(FOXI1):c.748dup (p.Asp250fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 4
β˜…β˜†β˜†β˜†2025β†’ Residue 250
NM_012188.5(FOXI1):c.92A>G (p.Tyr31Cys)Likely pathogenic
Hearing impairment
β˜…β˜†β˜†β˜†2021β†’ Residue 31
View on ClinVar β†—
Related Genes
SLC26A4Protein interaction95%KCNJ10Protein interaction85%GJB2Protein interaction74%FOXL3Shared pathway67%FOXD4L5Shared pathway67%FOXD4L6Shared pathway67%
Tissue Expression6 tissues
Brain
100%
Lung
5%
Liver
0%
Heart
0%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
FOXI1SLC26A4KCNJ10GJB2FOXL3FOXD4L5FOXD4L6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q12951
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.06LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.40–1.06]
RankingsWhere FOXI1 stands among ~20K protein-coding genes
  • #10,174of 20,598
    Most Researched40
  • #3,596of 5,498
    Most Pathogenic Variants5
  • #10,665of 17,882
    Most Constrained (LOEUF)1.06
Genes detectedFOXI1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A revised airway epithelial hierarchy includes CFTR-expressing ionocytes.
PMID: 30069044
Nature Β· 2018
1.00
2
Human FOX gene family (Review).
PMID: 15492844
Int J Oncol Β· 2004
0.90
3
The pathophysiology of distal renal tubular acidosis.
PMID: 37016093
Nat Rev Nephrol Β· 2023
0.80
4
A single-cell atlas of the airway epithelium reveals the CFTR-rich pulmonary ionocyte.
PMID: 30069046
Nature Β· 2018
0.70
5
Human ureteric bud organoids recapitulate branching morphogenesis and differentiate into functional collecting duct cell types.
PMID: 36038632
Nat Biotechnol Β· 2023
0.60